How Ectodermal Dysplasias Affects Eyes and How to Treat

Eye Problems in Ectodermal Syndrome Eye Problem Dysplasias In most individuals affected Fused eyelids, chronic epiphora, by the ectodermal dysplasias, Anykyloblepharon-ectodermal corneal opacities, photophobia, eye and vision problems are dysplasia-cleft lip and/or palate ectropion of eyelids or the no different than those in the (AEC) syndrome lacrimal papillae general population. Many eye problems relate to the altered Absent 2/3 of eyebrows, tear function or decreased Clouston Syndrome underdeveloped or missing tear supply or to blepharitis eyelashes (smoldering infections in the oil glands of the eye lashes). Deficient tears, recurring Ectrodactyly-ectodermal However, an ophthalmologist infections, corneal scarring, dysplasia-clefting (EEC) (a physician with specialty absent lacrimal punca or drainage syndrome experience in the breadth of apparatus in the nose. disorders of the eye and vision) should perform a complete Absent or underdeveloped Hypohidrotic ectodermal medical eye examination if eyebrows and eyelashes, deficient dysplasia (HED vision appears to be abnormal. tears, photophobia Cataracts, corneal scarring, infections, and retinal changes Hypohidrotic ectodermal Corneal opacities may cause visual problems dysplasia with corneal dysplasias in some of the ectodermal dysplasias. An ophthalmologist Myopia, microphthalmia, must evaluate, diagnose, and strabismus,iris heterchromia, treat these problems. Hypomelanosis of Ito retinal pigmentary abnormalities, optic atrophy Causes of Increased Sensitivity To Light Strabismus, nystagmus, retinal changes similar to retinopathy Photophobia or sensitivity Incontinentia Pigmenti of prematurity, leading to retinal to light or painful aversion detachment, secondary cataract, of bright sunlight has several and microphthalmia (small eyes) causes: dry corneal surfaces caused by insufficient Juvenile onset cataracts, myopia, tears, corneal abrasions, Marshall Syndrome fluid vitreous, and increased risk for retinal detachment Microphthalmia, narrow lid fisures, epicanthal folds, microcornea, Oculodentodigital strabismus, optic atrophy, syndrome (ODD) congenital cataract, glaucoma, persistent pupillary membrane, coloboma of the optic nerve head

T 618-566-2020 E [email protected] W WWW.NFED.ORG and blepharitis. Abrasion of dissolvable collagen plugs be used the cornea may be caused by first as a trial. If they are successful, distichiasis (eyelashes that grow “permanent” silicone plugs may be in an abnormal direction and then put in. These plugs may improve touch and scratch the cornea). poor tear volume substantially by These abnormal eyelashes may “salvaging” what tears are made. be removed to provide comfort Generally, however, “permanent” and prevent recurrence. Removal closure of the tear drain (called the may have to be repeated as new, punctum) with a laser or freezing is abnormal eyelashes may grow in not recommended. quickly. After repeated removal of aberrant lashes in the same Infection of the eye causes red area, the ophthalmologist may use eyelids, red conjunctiva, pus, and electrolysis or a laser or freezing crusting of the eyelashes, and may probe to “kill” the lash follicle to be accompanied by aversion to prevent those lashes from growing bright light (“photo aversion”). An again. infection should be evaluated and treated promptly by a physician Tears that normally lubricate (ophthalmologist). the eyes consist of a watery component from the lacrimal Proper hygiene may include daily gland, a mucous protein from cells hot, moist compresses to soften the in the conjunctiva, and oil from crusting and then scrubs with baby the glands in the eyelids. Any one shampoo to remove debris at the or all three parts may be altered base of the eyelids. Occasionally, in the ectodermal dysplasias. antibiotic eye drops may be used, Inadequate tears, which do not but the chronic and continuing use lubricate the surfaces of the eye of antibiotics is NOT appropriate, and the linings of the lids, will since the bacteria often become cause drying and result in small resistant to continuing use of the abrasions, irritation, pain, and same antibiotic for an extended aversion to light. time.

Drops of artificial tears placed Discolored Eyelids in the eyes several times a day Mild abnormalities of skin usually provide relief. A non- pigmentation in ectodermal prescription eye ointment, such dysplasias are seen more easily in as DuraTears or Lacrilube, may the thin skin of the eyelids. This be appropriate at bedtime “pigmentation” is really seeing because these products provide a the blood within the blood vessels sterile grease that, when melted, through the thin lid skin and lubricates the eye but does not underlying tissues and is only an evaporate. esthetic problem that may be covered with makeup. Another treatment is to plug the tiny ducts in the corners of the eyes that normally drain tears; this allows salvage of the sparse tears. It is recommended that

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NATIONAL FOUNDATION FOR ECTODERMAL DYSPLASIAS T 618-566-2020 E [email protected] W WWW.NFED.ORG