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A group of symptoms that occur together; may affect the whole body or any of its parts. The following selected syndromes affect the eye.

Syndromes that affect the eye
NORD - Batten Disease
Cerebral degeneration amaurotic familial idocy; appears in childhood; early death. Macular degeneration.
Borneville's Disease (also called Tuberous Sclerosis)

National Tuberous Sclerosis Association (NTSA)

Inherited as autosomal dominant; adenoma sebaceum (large "blackheads"); central nervous system tumors; renal tumors; multiple lung cysts; seizures; mental retardation; appears at birth or within the first few years; death in teens. Retinal tumors.
Coat's Disease
also known as Exudative Retinitis - Org
(none) Chronic, progressive inflammatory condition of the retina; exudations cause retinal detachment; iritis; glaucoma; cataracts; occurs mostly in males.
Down's (Trisomy 21)
Hearing and Vision Loss Associated with Down Syndrome
Small stature; flattened/round mongoloid facies; saddle nose; thick lower lip; large tongue; soft, seborrheic skin; smooth hair; obesity; small genitalia; short fingers; simian fold; congenital heart anomalies; mental retardation; psychic disturbances. Hyperplasia of iris; narrow palpebral fissures; high myopia; stabismus; cataracts; grey spots on the iris.
Edward's (Trisomy18)
NORD - Trisomy 18 Syndrome
Mental and physical retardation; congenital heart defects; and renal abnormalities. Corneal and lenticular opacities; unilateral ptosis; optic atrophy.
A closer look at Galactosemia
Parents of Galactosemic Children
Allergy to milk; autosomal recessive inheritance pattern. If not identified and treated (withdrawal of milk products), can cause enlarged liver and mental retardation. If untreated, cataracts develop.
Grave's (Hypothyroidism) Endocrine problem; pretibial myxedema (clubbing of the fingers). Lid retraction; proptosis; extraocular muscle involvement; corneal involvement; optic nerve involvement; most common in women.
Hurler's (Type I) Mucopolysaccharidosis Autosomal recessive; gargoylism; thick tongue; puffy cheeks; umbilical hernia; flat nose-bridge; mental retardation. Corneal clouding; buphthalmos; megalocornea esotropia; slight ptosis; pigmentary retinopathy; optic atrophy.
Laurence Moon Bardet Biedl Syndrome
Autosomal recessive; obesity; mental retardation; polydactyly; hypogenitalism. Retinitis pigmentosa.
Web Med
X-linked; cerebral defects, mental retardation; dwarfism; renal dysfunction; high early mortality rate. Congenital cataracts; infantile glaucoma; nystagmus; occurs only in males.
NORD - NIH-National Eye Institute
Autosomal recessive; multiple skeletal abnormalities; short and stocky with well developed muscles; hands and feet spade-shaped; childhood x-rays show delayed carpal and tarsal ossification. Spherophakia; ecktopia lentis, which leads to lenticular myopia; iridonesis; glaucoma (which resists treatment); poor visual prognosis.
Marfan - National Marfan Foundation
Marfan Syndrome
Autosomal dominant; arachnodactyly (increased length of long bones especially in fingers and toes); scanty subcutaneous fat (relaxed ligaments); genital heart disease; spine/joint deformities; high infant mortality rate. Dislocated lens (usually superiorly and nasally); severe refractive errors; megalocornea; cataract; uveal colobomas; secondary glaucoma.
Patau's (Trisomy 13)
Cerebral defects; cleft palate; heart lesions; polydactyly; hemangiomas; death by six months. Anophthalmos; microphthalmos; retinal displasia; optic atrophy; coloboma of uvea; cataracts.
Refsum disease
Spinocerebellar ataxia; deafness; polyneuritis. Retinal degeneration.
Rubella (German Measles)
Maternally induce infection of fetus; heart abnormalities; hearing defects; sometimes mental retardation. Bilateral cataracts; uveal colobomas; searching nystagmus; microphthalmus; strabismus; retinopathy; glaucoma.
NORD - Batten Disease
Autosomal recessive; central nervous system disorders; mental deterioration; appears in childhood; death in teens. Cerebromacular degeneration involving the outer layers of the retina; pallor of the optic disk.
Bielschowsky's (Similar to Spielmeyer-Vogt) Cerebromacular degeneration involving all layers of the retina.
Still's Disease Juvenile rheumatoid arthritis especially in the knee joints. Chronic uveitis, cataracts, secondary glaucoma; band-shaped keratopathy; ocular complications occur three times as often in girls.
Virginia Mason Research Center: ataxia-telangiectasia (A-T) syndrome
Autosomal dominant; port-wine-stain angioma on one side of the face; central nervous system disorders (including jacksonian convulsive seizures); no treatment; death by age thirty. Unilateral infantile glaucoma on the effected side; appears at birth; choroidal hemangioma.
Tay-Sachs Disease
March of Dimes Tay-Sachs Disease
Autosomal recessive; mental and physical deterioration in Jewish infants, first two to three years of life; death shortly after. Cerebromacular degeneration; degeneration of the inner layer of the retina; retinal pigmentary changes; optic atrophy; characterized by "cherry red" spot in macula.
Turner's (Monosomy) NORD - Turner Syndrome Effects females; retarded growth; rudimentary ovaries in female genitalia; amenorrhea. Pterygium colli; epicanthus; ptosis; color blindness.
NORD - Usher's Syndrome
Usher Syndrome - Information and Links
Congenital hearing loss to some degree, but usually deteriorates in teen years. Retinitis pigmentosa.
Wilson's Syndrome Foundation
Recessive inheritance pattern; neurological symptoms (chorea, spasticity, dysarthia, dysphagia); cirrhosis of the liver; faulty renal function; linked to defects in copper metabolism. Pigment ring in periphery of cornea (progressive, but rarely occludes the pupil); sometimes cataracts.