Eye diseases
Your eyes are an important window to your overall health and it might surprise you to learn that genetic factors can play a role in many types of eye disease, including those diseases that are the leading cause of blindness. Genetics can also play a role in vision problems that occur in otherwise healthy eyes.
Greater than 60 percent of cases of blindness among infants are caused by inherited eye diseases such as cataracts, congenital glaucoma, retinal degeneration, and eye malformations to name a few. Up to 40% of patients with certain types of strabismus (when the eyes are misaligned) have a family history of the disease and efforts are currently underway to identify the responsible genes.
Genetic ophthalmologic researchers now have evidence that the most common vision problems among children and adults are genetically determined.
- Acid spingomyelinase deficiency - See Niemann-pick types a/b
- Acute intermittent porphyria
- AIC - See Aicardi syndrome
- Aicardi syndrome
- Aicardi's syndrome - See Aicardi syndrome
- Alkaptonuria
- Alpha-Galactosidase A deficiency - See Fabry disease
- Alstrom syndrome
- Anderson-Fabry disease - See Fabry disease
- Angiokeratoma corporis diffusum - See Fabry disease
- Bardet-Biedl Syndrome
- Barth syndrome
- Bartholin-Patau syndrome - See Trisomy 13
- beta-glucuronidase Deficiency - See Mucopolysaccharidosis Type VII
- Bloom syndrome
- Bourneville disease - See Tuberous sclerosis
- CADASIL
- Cerebrotendinous xanthomatosis
- Ceroid lipofuscinosis, neuronal, 1
- CHARGE syndrome
- Congenital disorder of glycosylation, type ia
- Congenital toxoplasmosis
- Cornelia de Lange syndrome
- Cri-du-chat syndrome
- Crouzon syndrome
- CTX - See Cerebrotendinous xanthomatosis
- Cystinosis
- Epidermolysis bullosa
- Fabry - See Fabry disease
- Fabry disease
- Familial adenomatous polyposis
- Friedreich ataxia
- Gaucher disease
- GLA deficiency - See Fabry disease
- Homocystinuria
- Hutchinson-gilford progeria syndrome
- Hutchinson-Gilford syndrome - See Hutchinson-gilford progeria syndrome
- Incontinentia pigmenti
- Krabbe disease
- Leber hereditary optic neuropathy
- Lowe oculocerebrorenal syndrome
- Male Turner syndrome - See Noonan syndrome
- Marfan syndrome
- Mitochondrial DNA depletion syndrome 1 (MNGIE type)
- MPS III - See Mucopolysaccharidosis Type III
- MPS VII - See Mucopolysaccharidosis Type VII
- Mucopolysaccharidosis Type III
- Mucopolysaccharidosis Type VII
- Muir-Torre syndrome
- Myotonic Dystrophy
- Neurofibromatosis, type II
- Niemann-pick type c
- Niemann-pick types a/b
- Noonan syndrome
- Norrie disease
- Patau syndrome - See Trisomy 13
- progeria - See Hutchinson-gilford progeria syndrome
- Saethre-Chotzen syndrome
- Sandhoff disease
- Sanfilippo syndrome - See Mucopolysaccharidosis Type III
- Sly syndrome - See Mucopolysaccharidosis Type VII
- Smith-Lemli-Opitz syndrome
- Sotos syndrome
- Sphingomyelinase deficiency - See Niemann-pick types a/b
- Stickler syndrome, type i, nonsyndromic ocular
- Tay-Sachs disease
- Trisomy 13
- Trisomy 18
- Tuberous sclerosis
- Turner-like syndrome - See Noonan syndrome
- Tyrosinemia Type II
- Ullrich-Noonan syndrome - See Noonan syndrome
- Usher syndrome
- Von hippel-lindau syndrome
- Williams Syndrome
- Wilson disease
- X-linked juvenile retinoschisis 1
