Syndromes and Conditions Which Produce Signs and Symptoms in the Eyes
Moebius Syndrome
Moebius Syndrome is a rare congenital neurological disorder that affects both sixth and seventh cranial nerves, bilaterally. The standard clinical findings include moderate to complete facial paralysis combined with an inadequate ability to move the eyes horizontally due the abnormal function of the abducens nerve. Other clinical findings can include the inability to close the eyes or create any facial expressions as a result of the anomalous development of the facial nerve. Furthermore corneal erosions may be found due to constant lid retraction. Some patients may also have some involvement of the fifth and eighth cranial nerves resulting in difficulty breathing and swallowing and also hearing loss. Some of the physical findings may include abnormalities of the limbs such as clubbed feet, missing fingers or toes, and malformations of the chest wall. Terra Haller, CO
Ciancia Syndrome
Ciancia Syndrome is an ophthalmic condition that has a fairly early onset occurring sometime between birth and six months of age and is described as a large angle esotropia. It was first described by Ciancia in 1962 since then the name, clinical findings, and treatment have been of large debate among ophthalmologists. Currently this anomaly is called infantile esotropia and consists of a deviation greater than thirty prism diopters. In many clinical cases the patient exhibits a cross fixation preference. Commonly these patients have poor abduction due to the eyes being in an adducted position and often either latent or manifest nystagmus. Abnormal head postures can be present due to the fixing eye being in a constant adducted position. Additional clinical findings may include oblique muscle dysfunction, vertical incomitance, and dissociated vertical deviations. In all cases subnormal levels of binocular function is obtained. Terra Haller, CO
GRADENIGO SYNDROME:
Gradenigo Syndrome (GS) can be described as a triad of an abducens nerve palsy (CN VI), inflammation of the middle ear (otitis media), and orbital pain due to pain in the region that supplies the ophthalmic branch of the trigeminal nerve (CN V). Inflammation of the mastoid process (mastoiditis) may also occur. The mastoid process consists of a part of the temporal bone of the skull that can be located behind the ear. The inflammation usually occurs due to an infection that spreads into petrous portion of the temporal bone.
Moderate to severe symptoms can occur these may include an ipsilateral paralysis of the abducens nerve. This may cause gaze paresis or other ocular anomalies such as strabismus. Symptoms may also include headache, photophobia, extreme tear flow, and reduced corneal sensitivity. Different modalities may be used to diagnosis GS. Digital imaging, such as CT scans, MRI’s, and Radiosotope bone scans, can all confirm the presence of GS. Patients with diabetes or those taking high amounts of steroids or immunosuppressive drugs are more vulnerable to developing the infection.
Treatment options may include antibiotic treatment given in high dosages. The antibiotics can be systemic or topical. If the condition is diagnosed later on, surgical drainage may be required. Miqua Thomas, CO
FETAL ALCOHOL SYNDROME:
Fetal Alcohol Syndrome occurs when a mother drinks or abuses alcohol during her pregnancy. It can result in many mental, physical, and growth complications. The problems may begin to occur within the womb and will affect the outcome and development of the baby.
Symptoms of the condition can include miscarriages or still births. Indicators may also include reduced muscle tone and poor coordination, heart defects, diminished growth before and after birth. Developmental delay may also occur in areas such as speech, movement, thinking, and social skills. Physical anomalies can include a small head, a small upper jaw, smooth groove in upper lip, smooth and thin upper lip, and small, narrow eyes with large epicanthal folds. The cranio facial issues may also cause orbital complications with vision or alignment of the eyes.
To diagnose the disease full physical exams are necessary. Physical and mental delay may be present. Properly trained specialist can diagnose mental capacity and learning placement. Digital imaging, such as ultra sounds or MRI’s may also detect abnormal growth or development. The suspected pregnant mother’s blood alcohol level can also be analyzed.
The best treatment for the syndrome is to avoid alcohol during pregnancy. The pregnancy should be closely followed by a proper health care professional. After child birth routine checkups and Dr. Visits for the child should be continued. Specialists or health care professionals may be needed to deal with the growth, development, mental or physical issues the child can have. The mother should seek help with alcohol rehabilitation support groups or therapy. Miqua Thomas, CO
Down Syndrome
Down syndrome was first described in 1866 by John Langdon Down and is caused the presence of an extra 21st chromosome. The expression of this extra genetic material varies among individuals with this condition. The ocular findings in individuals with Down syndrome include refractive errors, astigmatism, strabismus, nystagmus, amblyopia, cataracts, glaucoma, Brushfield spots, blepharitis, lacrimal obstructions, and corneal ectasias. Some of the physical features include upward slanting of the palpebral fissures with epicanthic skin folds on the inner corner of the eyes, flat nasal bridge, protruding tongue, small chin, short limbs, and short necks. Terra Haller, CO
Brown Syndrome
Brown syndrome is a fairly rare condition that affects the extra ocular movements of the eye(s). This disorder was first described by Harold W. Brown in 1950 and was considered to be a malfunction of the superior oblique tendon sheath that surrounds the tendon. As a result the affected eye has a limitation to elevation when placed in an adducted position due to the tight or short superior oblique tendon sheath. Brown syndrome can be congenital or acquired; regardless the overall symptom is the limitation to elevation in adduction. Usually women are more affected than men and the right eye seems to be the most commonly involved eye. Surgical care is the most effective way to alleviate Brown syndrome, however surgical intervention is usually only considered if an abnormal head posture is present. Terra Haller, CO
DUANES SYNDROME
Duane Syndrome (DS) is a congenital disorder that is has been described as a limitation to horizontal eye movement. Studies have shown that this syndrome typically transpires around the sixth week or pregnancy. It is a developmental malformation in which the sixth cranial nerve, that innervates lateral rectus, does not develop correctly. A second opinion is that the cranial sixth nerve nucleus is absent. The reason for this is not yet clear. During the growth process a miswiring of nerve impulses occurs and a branch from the third cranial nerve, which innervates the medial rectus, also innervates the lateral rectus. Due to both muscles being innervated by the same nerve horizontal strabismus may be found in adduction or abduction.
Duane Syndrome can be classified into three major types according to the direction of limitation present. These restrictions can be directed away from the eye (Type I-abduction), towards the eye (Type II-adduction), or both (Type III- abduction and adduction). Type I is the most common form seen in about 70-80% of reported cases. During clinical evaluations there are other signs that are also helpful in a differential diagnosis of Duanes. Two of the most recognized signs are globe retraction and palpebral fissure narrowing on attempted adduction. Other findings may include strabismus, upshoots and downshoots of affected eye, A or V patterns, a face turn toward the affected side, enophthalmos, ptosis, heterochromia, nystagmus, and hypoplasia of the optic nerve. Amblyopia can be present this occurrence is rare. Most patients appreciate stereopsis and binocular function in head positions where there are no misalignments present. Supression can occur in locations where the eyes are not aligned.
The Syndrome is usually diagnosed in most patients by age ten. Although it is considered an incomitant paralytic strabismus most patients with DS do not complain of diplopia. It is more common in females than males. DS has no prevalence in any particular race. In a majority of diagnosed cases, DS is not associated with any other conditions. On some occasions the syndrome has been linked to malformations of the skeleton, ears, kidney, and nervous system. It has also been closely linked to Goldenhar Syndrome.
The most common form of treatment for DS is to watch and follow the patient if there are no complaints. All patients should be given their proper corrective lenses. Amblyopia can be treated with patching of the dominant eye. If action is necessary then surgery may be warranted. Surgical treatment is aimed at eliminating abnormal head postures, reducing enopthalmos, decreasing upshoots and downshoots, improving limited areas of horizontal gaze, and developing better alignment in primary position. Miqua Thomas, CO
STURGE WEBER SYNDROME
Sturge Weber Syndrome (SWS) is a congenital skin and neurologic disorder. Physical characteristics detail a large and noticeable birthmark that surrounds the upper eye-lid and forehead on one side. The birthmark can range in color from light pink to a dark purple and is medically known as a port wine stain. The birth mark is due to a large amount of capillaries that surround the trigeminal nerve (CN V) underneath the surface of the face. Nerve loss and calcification of the tissues also occur in the cerebral cortex on the same side as the birth mark. Calcification is the development of calcium and salt building up in the body and this process causes the affected body tissues to become hard.
There are three major classifications of SWS. These are based off of the presence or absence of brain angiomas. Angiomas are benign blood vessel growths or tumors. Type I has port wine stains and brain angiomas, Type II port wine stains but no brain angioms, and Type III has brain angiomas but no port wine stains. Type I is known to be the most common of the three. Gluacoma is more commonly found in Type I and II. If glaucoma becomes severe patients may experience vision loss. Other Indicators of this syndrome include seizures, contralateral convulsions, ipsilateral muscle weakness, headaches, hemiparesis, chorodial hemangiomas, and emotional or behavioral problems. Some children may be mentally challenged or developmentally delayed. Eye findings may include buphthalmos, and glaucoma that is usually present at birth. It is rare for SWS to affect other body organs. Sexes are affected equally and there is no prevalence with race has been determined.
Treatment consists of lasers to remove the birthmark. Anticonvulsant medication can be used to reduce or control the occurrence of seizures. Eye drops or surgery may be needed to decrease the high intraocular pressures that cause the glaucoma. Brain surgery may also be performed in efforts to stop the seizures. Physical therapy can be used for paralysis or muscle weakness. Professional specialists may be introduced to help those with mental development issues or behavioral problems. Miqua Thomas, CO
Dermoid
A dermoid, also known as a christoma, is tissue that is found in an abnormal location that is otherwise histologically normal. This tissue is a combination of epidermal and connective components that is thought to correlate with abnormal closure of the optic fissure, a ventral fissure in the developing optic cup in which blood vessels pass to the enclosed mesenchyme. Different types of dermoids exist such as limbal dermoids, lipodermoids, dermoid cysts, and dermoid tumors. All of these can be found in or around the orbit and have the potential to adversely affect the normal growth and development of the eye and the visual system.
Limbal dermoids typically consist of epidermal tissue and hair. A limbal dermoid is of major concern in ophthalmology because it frequently leads to astigmatism which can bring forth meridional or anisometropic amblyopia. Both forms of amblyopia can be treated efficiently if diagnosed and treated in the early childhood years. Lipodermoids also termed dermolipomas contain fatty fibrous tissue along with the usual epidermal and connective tissue.
Lipodermoids are frequently found in the temporal region of the conjunctiva and are often of little concern, however if surgery is necessary the excision must be limited to avoid scarring and damage to the lateral rectus muscle. Surgical excision could result in a restrictive strabismus causing limited adduction of the eye. If this occurs the patient could be left with an incomittant exotropia and possibly double vision. Goldenhar’s syndrome is often characterized by both limbal dermoids and lipodermoids. Therefore patients diagnosed with this syndrome are followed very closely by a pediatric ophthalmologist to avoid any delay or arrest of the visual system.
Dermoid cysts/dermoid tumors are benign choristomas that can be found in the orbit, but most commonly found in the superotemperal brow and the superior medial central area of the brow. These benign masses grow slowly over time and often cause thinning of the bordering bone due to constant pressure. Infrequently dermoid cysts will extend through the suture line and create a “collar-button” lesion within the orbit. Imaging must be done to definitively diagnose intraorbital extension. Once diagnosed the cyst should be surgically removed. Terra Haller, CO
Hemangioma
Up to ten percent of the pediatric population can be born with a hemangioma. Hemangiomas are frequently found on the upper or lower lids and on the orbit. Hemangiomas are lesions that tend to grow rapidly during the first six months of life, and then between the ages of 2 and 4 they begin to shrink on their own. Occasionally soft tissue and bone deformities may remain even after the hemangioma has regressed. Hemangiomas are of great concern to pediatric ophthalmologists because they have the potential to produce amblyopia. Amblyopia can occur secondary to stimulus deprivation, astigmatism, or anisometropia. Therefore these patients are followed carefully to ensure that the visual system is developing normally, and to intervene if necessary. If intervention is necessary the most common treatment is corticosteroid therapy either by injection or orally. Interferon is another therapy that is indicated and is administered daily via subcutaneous injections over several months. Finally surgical excision of the lesion can be done given the intrinsic risks that can occur with any surgical procedure. Terra Haller, CO
JUVENILE IDIOPATHIC ARTHRITIS
Juvenile idiopathic arthritis (JIA) is the most common form of arthritis found in children. It may also by recognized by the name Juvenile Rheumatoid Arthritis (JRA). JIA is not hereditary and has been classified as an autoimmune disease. Research has shown the disease occurs when the immune system begins to attack specific tissues called synovium. Synovium lines the inside of the joints of the body. When the tissue is attacked it begins to create an extra amount of fluid known as synovial fluid. This added amount of fluid leads to swelling, pain, and stiffness. If the inflammation becomes severe it can extend into the surrounding tissues and cause irreversible damage to the bones and cartilage. The most common complaints of JIA are joint pain and muscle stiffness. Other symptoms include red and swollen joints, back pain, and limited range of motion of the affected body part(s), limping, weight loss, rash, and fever, fatigue. Eye findings may include inflammation of the uvea (uveitis), red eyes, eye pain, eye irritation, photophobia, and vision or refractive error changes.
There are several categories of JIA. Systemic Arthritis includes swelling, pain, fevers, and rashes. It usually affects most of the body’s major systems and internal organs. This arthritis is the least common of all the types but is the most wide spread systemically. Polyarticular Arthritis consists of the joints of the body and may eventually turn into rheumatoid arthritis. Affected areas would include the arms, legs, or cervical spine. Enthesitis Arthritis affects the spine, hips, and attachment areas of tendons to bones. Pauciarticular Arthritis involves only a few joints such as the hip, ankle, jaw, or knee. Psoriatic Arthritis affects children that have a rash called psoriasis. Psoriasis is a skin condition that causes thick, red, irritated skin. The last type is Oligoarthitis Arthritis and this group incorporates the eye findings of uveitis and iridocyclitis. It also affects only a small amount of joints and most children outgrow this type by the time they reach adulthood. About half of diagnosed children have this type of arthritis.
To diagnosis this disease key signs such as an enlarged spleen, liver, or lymph nodes can all be looked into too. Affected areas of inflammation may also be classified or tested. Treatment involves the usage of anti inflammatory drugs, corticosteroids, and disease modifying anti- rheumatic drugs. In severe cases surgery may be needed for some children to replace damaged joints. In this illness using the muscles is of extreme importance. Walking and other physical activities are good to relieve or weaken the effects of some symptoms. Miqua Thomas, CO
RETINOBLASTOMA
Retinoblastoma (RB) is an intraocular tumor growth that develops in early childhood. It is generically known as “Eye Cancer.” The tumor is caused by genetic mutations that cause the developing cells in the retina to build up and over accumulate. This over abundance of cell growth then turns into a harmful tumor. In most cases the tumor stays limited to the retina. In other cases the tumor can spread into the orbit or out into various systems and areas of the body. There are two major types that are categorized based on if the tumor is hereditary or non hereditary. The hereditary form consists of several tumors in both eyes. This form has an autosomal dominant pattern and is passed down directly from parent to child. In the non- hereditary form only one tumor is found in one eye. This form can occur spontaneously or may develop through cell mutations. The Non hereditary is the more common of the two.
The disease can easily go undetected because it develops very early on and most verbal children do not complain of the vision loss or pain. The most common symptom is luekocoria (white pupil). Other symptoms may include strabismus, low vision, a large and dilated pupil, different colored irises (heterochromia), redness, proptosis, eye/ orbital pain, and inflammation of the eye and surrounding tissue.
In most case RB is rarely fatal and is curable with early detection and treatment of the affected eye(s). To diagnosis the tumors digital imaging and X-rays should be used. Spinal taps and a bone marrow biopsy can be used to investigate if the disease has metastasized. Treatment includes removal of the affected eye(s) (enucleation) and various forms of radiation or laser procedures. For treatment options it is important to have a great support and medical team including an informed ophthalmologist. Miqua Thomas, CO
NF1
Neurofibromatosis type 1 is a common autosomal dominant condition affecting the nervous system with an incidence of ~1 per 2500 to 3000 people worldwide. NFI is independent of race, ethnicity, and gender. It is caused by a mutation in the NF1 gene on chromosome 17. Von Recklinghausen first described the condition in 1882, but formal diagnostic criteria was not established until 1987 by the National Institutes of Health Consensus Development Conference. A clinical diagnosis of NF1 is made in an individual with any two of the following clinical features: café-au-lait spots, intertriginous freckling, Lisch nodules, neurofibromas, optic pathway gliomas, distinctive bony lesions, and a first-degree family relative with NF1.
In 1937 Lisch reported three patients who had NF1, all of which had melanocytic iris harmatomas (commonly called Lisch nodules). These nodules are flat or minimally elevated dark-pigmented lesions on the iris with blurred margins. Lisch nodules do not affect vision, but their identification on a slit-lamp examination is important in determining whether a patient has clinical findings of NF1.
Studies have shown that the presence of Lisch nodules are the most common manifestation of NF1 in all patients with the condition. Almost 100% of adults with NF1 will have Lisch nodules present with a slit-lamp examination, and 95% of patients under 16 will have them. Lisch nodules are more likely to be observed in younger patients than neurofibromas, and are helpful in making diagnoses. Likewise, if there is a family history of NF1 in a child but they do not display two of the clinical features of the condition, it is important to repeat slit-lamp examinations periodically because Lisch nodules often present before neurofibromas in patients. Husan et al. made the conclusion that there is significant correlation between the number of Lisch nodules observed and the age of the patients. They posited that 95% of adults with Lisch nodules developed them in early childhood, but the majority of children with Lisch nodules present were over 6 years of age. Frequent slit-lamp examinations are necessary in patients with familial history of NF1 to determine the manifestation of Lisch nodules, especially if there are no other diagnosing features present.
Potential complications of NF1 include malignant peripheral nerve sheath tumors, skeletal dysplasia, optic pathway gliomas, and cardiovascular abnormalities. While Lisch nodules themselves do not affect vision, they are important in identifying and developing treatment plans for patients with NF1. Slit-lamp examinations in pediatric patients not presenting with Lisch nodules but with a family history should be done regularly to monitor for presence of the condition.
References
Husan S, Jones, D, Beck, L. Ophthalmic manifestations of neurofibromatosis. Br J Ophthalmol.
1982;71:235–238
Lubs M-LE, Bauer MS, Formas, ME, Djokic, B. Lisch nodules in neurofibromatosis type 1. N
Engl J Med. 1991;324:1264–1266
Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. Neurofibromatosis type
1 revisited. J Pediatr. 2009;123:124–133
Angela Dillon, MA
Brushfield Spots
Brushfield's spots: Speckled iris. Little white spots that slightly elevated on the surface of the iris arranged in a ring concentric with the pupil. These spots occur in normal children but are far more frequent in Down syndrome (trisomy 21). They were described in 1924 by Thomas Brushfield and are due to aggregation of a normal iris element (connective tissue).
Summary:
What are they?: White spots on the iris caused by aggregation of connective tissue.
Significance: no visual significance, just another indicator for Down syndrome
Do all patients with downs syndrome have them?: No, statistics show that patients with brown irides are never seen to have Brushfield spots. They are mostly noted in babies with light eyes, babies may have them at birth but as they age and their irides change to a darker color, the Brushfield spots diminish.
Is there a need to keep checking them?: If Brushfield spots are noted on previous exams, yes we should keep track of how they change over time but since they cause no visual issues, it is not necessary to repeat slit lamp examinations with every visit.
Other ocular findings in patients with Down Syndrome: cataracts, IOP, myopia, strabismus
Demographics: occurs more frequently in Caucasians and in those with light irides.
Kathleen Curtin, BS
Moebius Syndrome is a rare congenital neurological disorder that affects both sixth and seventh cranial nerves, bilaterally. The standard clinical findings include moderate to complete facial paralysis combined with an inadequate ability to move the eyes horizontally due the abnormal function of the abducens nerve. Other clinical findings can include the inability to close the eyes or create any facial expressions as a result of the anomalous development of the facial nerve. Furthermore corneal erosions may be found due to constant lid retraction. Some patients may also have some involvement of the fifth and eighth cranial nerves resulting in difficulty breathing and swallowing and also hearing loss. Some of the physical findings may include abnormalities of the limbs such as clubbed feet, missing fingers or toes, and malformations of the chest wall. Terra Haller, CO
Ciancia Syndrome
Ciancia Syndrome is an ophthalmic condition that has a fairly early onset occurring sometime between birth and six months of age and is described as a large angle esotropia. It was first described by Ciancia in 1962 since then the name, clinical findings, and treatment have been of large debate among ophthalmologists. Currently this anomaly is called infantile esotropia and consists of a deviation greater than thirty prism diopters. In many clinical cases the patient exhibits a cross fixation preference. Commonly these patients have poor abduction due to the eyes being in an adducted position and often either latent or manifest nystagmus. Abnormal head postures can be present due to the fixing eye being in a constant adducted position. Additional clinical findings may include oblique muscle dysfunction, vertical incomitance, and dissociated vertical deviations. In all cases subnormal levels of binocular function is obtained. Terra Haller, CO
GRADENIGO SYNDROME:
Gradenigo Syndrome (GS) can be described as a triad of an abducens nerve palsy (CN VI), inflammation of the middle ear (otitis media), and orbital pain due to pain in the region that supplies the ophthalmic branch of the trigeminal nerve (CN V). Inflammation of the mastoid process (mastoiditis) may also occur. The mastoid process consists of a part of the temporal bone of the skull that can be located behind the ear. The inflammation usually occurs due to an infection that spreads into petrous portion of the temporal bone.
Moderate to severe symptoms can occur these may include an ipsilateral paralysis of the abducens nerve. This may cause gaze paresis or other ocular anomalies such as strabismus. Symptoms may also include headache, photophobia, extreme tear flow, and reduced corneal sensitivity. Different modalities may be used to diagnosis GS. Digital imaging, such as CT scans, MRI’s, and Radiosotope bone scans, can all confirm the presence of GS. Patients with diabetes or those taking high amounts of steroids or immunosuppressive drugs are more vulnerable to developing the infection.
Treatment options may include antibiotic treatment given in high dosages. The antibiotics can be systemic or topical. If the condition is diagnosed later on, surgical drainage may be required. Miqua Thomas, CO
FETAL ALCOHOL SYNDROME:
Fetal Alcohol Syndrome occurs when a mother drinks or abuses alcohol during her pregnancy. It can result in many mental, physical, and growth complications. The problems may begin to occur within the womb and will affect the outcome and development of the baby.
Symptoms of the condition can include miscarriages or still births. Indicators may also include reduced muscle tone and poor coordination, heart defects, diminished growth before and after birth. Developmental delay may also occur in areas such as speech, movement, thinking, and social skills. Physical anomalies can include a small head, a small upper jaw, smooth groove in upper lip, smooth and thin upper lip, and small, narrow eyes with large epicanthal folds. The cranio facial issues may also cause orbital complications with vision or alignment of the eyes.
To diagnose the disease full physical exams are necessary. Physical and mental delay may be present. Properly trained specialist can diagnose mental capacity and learning placement. Digital imaging, such as ultra sounds or MRI’s may also detect abnormal growth or development. The suspected pregnant mother’s blood alcohol level can also be analyzed.
The best treatment for the syndrome is to avoid alcohol during pregnancy. The pregnancy should be closely followed by a proper health care professional. After child birth routine checkups and Dr. Visits for the child should be continued. Specialists or health care professionals may be needed to deal with the growth, development, mental or physical issues the child can have. The mother should seek help with alcohol rehabilitation support groups or therapy. Miqua Thomas, CO
Down Syndrome
Down syndrome was first described in 1866 by John Langdon Down and is caused the presence of an extra 21st chromosome. The expression of this extra genetic material varies among individuals with this condition. The ocular findings in individuals with Down syndrome include refractive errors, astigmatism, strabismus, nystagmus, amblyopia, cataracts, glaucoma, Brushfield spots, blepharitis, lacrimal obstructions, and corneal ectasias. Some of the physical features include upward slanting of the palpebral fissures with epicanthic skin folds on the inner corner of the eyes, flat nasal bridge, protruding tongue, small chin, short limbs, and short necks. Terra Haller, CO
Brown Syndrome
Brown syndrome is a fairly rare condition that affects the extra ocular movements of the eye(s). This disorder was first described by Harold W. Brown in 1950 and was considered to be a malfunction of the superior oblique tendon sheath that surrounds the tendon. As a result the affected eye has a limitation to elevation when placed in an adducted position due to the tight or short superior oblique tendon sheath. Brown syndrome can be congenital or acquired; regardless the overall symptom is the limitation to elevation in adduction. Usually women are more affected than men and the right eye seems to be the most commonly involved eye. Surgical care is the most effective way to alleviate Brown syndrome, however surgical intervention is usually only considered if an abnormal head posture is present. Terra Haller, CO
DUANES SYNDROME
Duane Syndrome (DS) is a congenital disorder that is has been described as a limitation to horizontal eye movement. Studies have shown that this syndrome typically transpires around the sixth week or pregnancy. It is a developmental malformation in which the sixth cranial nerve, that innervates lateral rectus, does not develop correctly. A second opinion is that the cranial sixth nerve nucleus is absent. The reason for this is not yet clear. During the growth process a miswiring of nerve impulses occurs and a branch from the third cranial nerve, which innervates the medial rectus, also innervates the lateral rectus. Due to both muscles being innervated by the same nerve horizontal strabismus may be found in adduction or abduction.
Duane Syndrome can be classified into three major types according to the direction of limitation present. These restrictions can be directed away from the eye (Type I-abduction), towards the eye (Type II-adduction), or both (Type III- abduction and adduction). Type I is the most common form seen in about 70-80% of reported cases. During clinical evaluations there are other signs that are also helpful in a differential diagnosis of Duanes. Two of the most recognized signs are globe retraction and palpebral fissure narrowing on attempted adduction. Other findings may include strabismus, upshoots and downshoots of affected eye, A or V patterns, a face turn toward the affected side, enophthalmos, ptosis, heterochromia, nystagmus, and hypoplasia of the optic nerve. Amblyopia can be present this occurrence is rare. Most patients appreciate stereopsis and binocular function in head positions where there are no misalignments present. Supression can occur in locations where the eyes are not aligned.
The Syndrome is usually diagnosed in most patients by age ten. Although it is considered an incomitant paralytic strabismus most patients with DS do not complain of diplopia. It is more common in females than males. DS has no prevalence in any particular race. In a majority of diagnosed cases, DS is not associated with any other conditions. On some occasions the syndrome has been linked to malformations of the skeleton, ears, kidney, and nervous system. It has also been closely linked to Goldenhar Syndrome.
The most common form of treatment for DS is to watch and follow the patient if there are no complaints. All patients should be given their proper corrective lenses. Amblyopia can be treated with patching of the dominant eye. If action is necessary then surgery may be warranted. Surgical treatment is aimed at eliminating abnormal head postures, reducing enopthalmos, decreasing upshoots and downshoots, improving limited areas of horizontal gaze, and developing better alignment in primary position. Miqua Thomas, CO
STURGE WEBER SYNDROME
Sturge Weber Syndrome (SWS) is a congenital skin and neurologic disorder. Physical characteristics detail a large and noticeable birthmark that surrounds the upper eye-lid and forehead on one side. The birthmark can range in color from light pink to a dark purple and is medically known as a port wine stain. The birth mark is due to a large amount of capillaries that surround the trigeminal nerve (CN V) underneath the surface of the face. Nerve loss and calcification of the tissues also occur in the cerebral cortex on the same side as the birth mark. Calcification is the development of calcium and salt building up in the body and this process causes the affected body tissues to become hard.
There are three major classifications of SWS. These are based off of the presence or absence of brain angiomas. Angiomas are benign blood vessel growths or tumors. Type I has port wine stains and brain angiomas, Type II port wine stains but no brain angioms, and Type III has brain angiomas but no port wine stains. Type I is known to be the most common of the three. Gluacoma is more commonly found in Type I and II. If glaucoma becomes severe patients may experience vision loss. Other Indicators of this syndrome include seizures, contralateral convulsions, ipsilateral muscle weakness, headaches, hemiparesis, chorodial hemangiomas, and emotional or behavioral problems. Some children may be mentally challenged or developmentally delayed. Eye findings may include buphthalmos, and glaucoma that is usually present at birth. It is rare for SWS to affect other body organs. Sexes are affected equally and there is no prevalence with race has been determined.
Treatment consists of lasers to remove the birthmark. Anticonvulsant medication can be used to reduce or control the occurrence of seizures. Eye drops or surgery may be needed to decrease the high intraocular pressures that cause the glaucoma. Brain surgery may also be performed in efforts to stop the seizures. Physical therapy can be used for paralysis or muscle weakness. Professional specialists may be introduced to help those with mental development issues or behavioral problems. Miqua Thomas, CO
Dermoid
A dermoid, also known as a christoma, is tissue that is found in an abnormal location that is otherwise histologically normal. This tissue is a combination of epidermal and connective components that is thought to correlate with abnormal closure of the optic fissure, a ventral fissure in the developing optic cup in which blood vessels pass to the enclosed mesenchyme. Different types of dermoids exist such as limbal dermoids, lipodermoids, dermoid cysts, and dermoid tumors. All of these can be found in or around the orbit and have the potential to adversely affect the normal growth and development of the eye and the visual system.
Limbal dermoids typically consist of epidermal tissue and hair. A limbal dermoid is of major concern in ophthalmology because it frequently leads to astigmatism which can bring forth meridional or anisometropic amblyopia. Both forms of amblyopia can be treated efficiently if diagnosed and treated in the early childhood years. Lipodermoids also termed dermolipomas contain fatty fibrous tissue along with the usual epidermal and connective tissue.
Lipodermoids are frequently found in the temporal region of the conjunctiva and are often of little concern, however if surgery is necessary the excision must be limited to avoid scarring and damage to the lateral rectus muscle. Surgical excision could result in a restrictive strabismus causing limited adduction of the eye. If this occurs the patient could be left with an incomittant exotropia and possibly double vision. Goldenhar’s syndrome is often characterized by both limbal dermoids and lipodermoids. Therefore patients diagnosed with this syndrome are followed very closely by a pediatric ophthalmologist to avoid any delay or arrest of the visual system.
Dermoid cysts/dermoid tumors are benign choristomas that can be found in the orbit, but most commonly found in the superotemperal brow and the superior medial central area of the brow. These benign masses grow slowly over time and often cause thinning of the bordering bone due to constant pressure. Infrequently dermoid cysts will extend through the suture line and create a “collar-button” lesion within the orbit. Imaging must be done to definitively diagnose intraorbital extension. Once diagnosed the cyst should be surgically removed. Terra Haller, CO
Hemangioma
Up to ten percent of the pediatric population can be born with a hemangioma. Hemangiomas are frequently found on the upper or lower lids and on the orbit. Hemangiomas are lesions that tend to grow rapidly during the first six months of life, and then between the ages of 2 and 4 they begin to shrink on their own. Occasionally soft tissue and bone deformities may remain even after the hemangioma has regressed. Hemangiomas are of great concern to pediatric ophthalmologists because they have the potential to produce amblyopia. Amblyopia can occur secondary to stimulus deprivation, astigmatism, or anisometropia. Therefore these patients are followed carefully to ensure that the visual system is developing normally, and to intervene if necessary. If intervention is necessary the most common treatment is corticosteroid therapy either by injection or orally. Interferon is another therapy that is indicated and is administered daily via subcutaneous injections over several months. Finally surgical excision of the lesion can be done given the intrinsic risks that can occur with any surgical procedure. Terra Haller, CO
JUVENILE IDIOPATHIC ARTHRITIS
Juvenile idiopathic arthritis (JIA) is the most common form of arthritis found in children. It may also by recognized by the name Juvenile Rheumatoid Arthritis (JRA). JIA is not hereditary and has been classified as an autoimmune disease. Research has shown the disease occurs when the immune system begins to attack specific tissues called synovium. Synovium lines the inside of the joints of the body. When the tissue is attacked it begins to create an extra amount of fluid known as synovial fluid. This added amount of fluid leads to swelling, pain, and stiffness. If the inflammation becomes severe it can extend into the surrounding tissues and cause irreversible damage to the bones and cartilage. The most common complaints of JIA are joint pain and muscle stiffness. Other symptoms include red and swollen joints, back pain, and limited range of motion of the affected body part(s), limping, weight loss, rash, and fever, fatigue. Eye findings may include inflammation of the uvea (uveitis), red eyes, eye pain, eye irritation, photophobia, and vision or refractive error changes.
There are several categories of JIA. Systemic Arthritis includes swelling, pain, fevers, and rashes. It usually affects most of the body’s major systems and internal organs. This arthritis is the least common of all the types but is the most wide spread systemically. Polyarticular Arthritis consists of the joints of the body and may eventually turn into rheumatoid arthritis. Affected areas would include the arms, legs, or cervical spine. Enthesitis Arthritis affects the spine, hips, and attachment areas of tendons to bones. Pauciarticular Arthritis involves only a few joints such as the hip, ankle, jaw, or knee. Psoriatic Arthritis affects children that have a rash called psoriasis. Psoriasis is a skin condition that causes thick, red, irritated skin. The last type is Oligoarthitis Arthritis and this group incorporates the eye findings of uveitis and iridocyclitis. It also affects only a small amount of joints and most children outgrow this type by the time they reach adulthood. About half of diagnosed children have this type of arthritis.
To diagnosis this disease key signs such as an enlarged spleen, liver, or lymph nodes can all be looked into too. Affected areas of inflammation may also be classified or tested. Treatment involves the usage of anti inflammatory drugs, corticosteroids, and disease modifying anti- rheumatic drugs. In severe cases surgery may be needed for some children to replace damaged joints. In this illness using the muscles is of extreme importance. Walking and other physical activities are good to relieve or weaken the effects of some symptoms. Miqua Thomas, CO
RETINOBLASTOMA
Retinoblastoma (RB) is an intraocular tumor growth that develops in early childhood. It is generically known as “Eye Cancer.” The tumor is caused by genetic mutations that cause the developing cells in the retina to build up and over accumulate. This over abundance of cell growth then turns into a harmful tumor. In most cases the tumor stays limited to the retina. In other cases the tumor can spread into the orbit or out into various systems and areas of the body. There are two major types that are categorized based on if the tumor is hereditary or non hereditary. The hereditary form consists of several tumors in both eyes. This form has an autosomal dominant pattern and is passed down directly from parent to child. In the non- hereditary form only one tumor is found in one eye. This form can occur spontaneously or may develop through cell mutations. The Non hereditary is the more common of the two.
The disease can easily go undetected because it develops very early on and most verbal children do not complain of the vision loss or pain. The most common symptom is luekocoria (white pupil). Other symptoms may include strabismus, low vision, a large and dilated pupil, different colored irises (heterochromia), redness, proptosis, eye/ orbital pain, and inflammation of the eye and surrounding tissue.
In most case RB is rarely fatal and is curable with early detection and treatment of the affected eye(s). To diagnosis the tumors digital imaging and X-rays should be used. Spinal taps and a bone marrow biopsy can be used to investigate if the disease has metastasized. Treatment includes removal of the affected eye(s) (enucleation) and various forms of radiation or laser procedures. For treatment options it is important to have a great support and medical team including an informed ophthalmologist. Miqua Thomas, CO
NF1
Neurofibromatosis type 1 is a common autosomal dominant condition affecting the nervous system with an incidence of ~1 per 2500 to 3000 people worldwide. NFI is independent of race, ethnicity, and gender. It is caused by a mutation in the NF1 gene on chromosome 17. Von Recklinghausen first described the condition in 1882, but formal diagnostic criteria was not established until 1987 by the National Institutes of Health Consensus Development Conference. A clinical diagnosis of NF1 is made in an individual with any two of the following clinical features: café-au-lait spots, intertriginous freckling, Lisch nodules, neurofibromas, optic pathway gliomas, distinctive bony lesions, and a first-degree family relative with NF1.
In 1937 Lisch reported three patients who had NF1, all of which had melanocytic iris harmatomas (commonly called Lisch nodules). These nodules are flat or minimally elevated dark-pigmented lesions on the iris with blurred margins. Lisch nodules do not affect vision, but their identification on a slit-lamp examination is important in determining whether a patient has clinical findings of NF1.
Studies have shown that the presence of Lisch nodules are the most common manifestation of NF1 in all patients with the condition. Almost 100% of adults with NF1 will have Lisch nodules present with a slit-lamp examination, and 95% of patients under 16 will have them. Lisch nodules are more likely to be observed in younger patients than neurofibromas, and are helpful in making diagnoses. Likewise, if there is a family history of NF1 in a child but they do not display two of the clinical features of the condition, it is important to repeat slit-lamp examinations periodically because Lisch nodules often present before neurofibromas in patients. Husan et al. made the conclusion that there is significant correlation between the number of Lisch nodules observed and the age of the patients. They posited that 95% of adults with Lisch nodules developed them in early childhood, but the majority of children with Lisch nodules present were over 6 years of age. Frequent slit-lamp examinations are necessary in patients with familial history of NF1 to determine the manifestation of Lisch nodules, especially if there are no other diagnosing features present.
Potential complications of NF1 include malignant peripheral nerve sheath tumors, skeletal dysplasia, optic pathway gliomas, and cardiovascular abnormalities. While Lisch nodules themselves do not affect vision, they are important in identifying and developing treatment plans for patients with NF1. Slit-lamp examinations in pediatric patients not presenting with Lisch nodules but with a family history should be done regularly to monitor for presence of the condition.
References
Husan S, Jones, D, Beck, L. Ophthalmic manifestations of neurofibromatosis. Br J Ophthalmol.
1982;71:235–238
Lubs M-LE, Bauer MS, Formas, ME, Djokic, B. Lisch nodules in neurofibromatosis type 1. N
Engl J Med. 1991;324:1264–1266
Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. Neurofibromatosis type
1 revisited. J Pediatr. 2009;123:124–133
Angela Dillon, MA
Brushfield Spots
Brushfield's spots: Speckled iris. Little white spots that slightly elevated on the surface of the iris arranged in a ring concentric with the pupil. These spots occur in normal children but are far more frequent in Down syndrome (trisomy 21). They were described in 1924 by Thomas Brushfield and are due to aggregation of a normal iris element (connective tissue).
Summary:
What are they?: White spots on the iris caused by aggregation of connective tissue.
Significance: no visual significance, just another indicator for Down syndrome
Do all patients with downs syndrome have them?: No, statistics show that patients with brown irides are never seen to have Brushfield spots. They are mostly noted in babies with light eyes, babies may have them at birth but as they age and their irides change to a darker color, the Brushfield spots diminish.
Is there a need to keep checking them?: If Brushfield spots are noted on previous exams, yes we should keep track of how they change over time but since they cause no visual issues, it is not necessary to repeat slit lamp examinations with every visit.
Other ocular findings in patients with Down Syndrome: cataracts, IOP, myopia, strabismus
Demographics: occurs more frequently in Caucasians and in those with light irides.
Kathleen Curtin, BS
