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
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
(none)
Chronic, progressive inflammatory condition of the retina; exudations cause retinal
detachment; iritis; glaucoma; cataracts; occurs mostly in males.
Down's (Trisomy 21)
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)
Mental and physical retardation; congenital heart defects; and renal abnormalities.
Corneal and lenticular opacities; unilateral ptosis; optic atrophy.
Galactosemia
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)
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
Autosomal recessive; obesity; mental retardation; polydactyly; hypogenitalism.
Retinitis pigmentosa.
Lowe's
X-linked; cerebral defects, mental retardation; dwarfism; renal dysfunction; high early
mortality rate.
Congenital cataracts; infantile glaucoma; nystagmus; occurs only in males.
Marchesani's
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
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's
Spinocerebellar ataxia; deafness; polyneuritis.
Retinal degeneration.
Rubella
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
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
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
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)
Effects females; retarded growth; rudimentary ovaries in female genitalia; amenorrhea.
Pterygium colli; epicanthus; ptosis; color blindness.
Usher's
Congenital hearing loss to some degree, but usually deteriorates in teen years.
Retinitis pigmentosa.
Wilson's
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.