A group of symptoms that occur together; may affect the whole body or any of its parts. The following selected syndromes affect the eye.
| SYNDROME | GENERAL BODY CHARACTERISTICS | OCULAR INVOLVEMENT |
|---|---|---|
| Batten-Mayou NORD - Batten Disease |
Cerebral degeneration amaurotic familial idocy; appears in childhood; early death. | Macular degeneration. |
| Borneville's Disease (also called Tuberous Sclerosis) | 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. |
| Galactosemia 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-Biedl Laurence Moon Bardet Biedl Syndrome |
Autosomal recessive; obesity; mental retardation; polydactyly; hypogenitalism. | Retinitis pigmentosa. |
| Lowe's Web Med |
X-linked; cerebral defects, mental retardation; dwarfism; renal dysfunction; high early mortality rate. | Congenital cataracts; infantile glaucoma; nystagmus; occurs only in males. |
| Marchesani's 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's 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) THE MERCK MANUAL - 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's Refsum disease THE MERCK MANUAL - REFSUM'S SYNDROME |
Spinocerebellar ataxia; deafness; polyneuritis. | Retinal degeneration. |
| Rubella 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. |
| Spielmeyer-Vogt's 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. |
| Sturge-Weber 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 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. |
| Usher's 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 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. |