Essential Guide to Hereditary & Genetic Eye Diseases

Hereditary & Genetic Eye Diseases Flash Cards

Retinitis Pigmentosa

An inherited retinal degeneration characterized by progressive night blindness, peripheral visual field loss, and eventual central vision impairment due to photoreceptor degeneration.

Stargardt Disease

The most common inherited juvenile macular dystrophy, causing progressive central vision loss, macular atrophy, and yellow pisciform retinal flecks.

Best Disease

An autosomal dominant macular dystrophy characterized by vitelliform (“egg-yolk”) lesions caused by mutations in the BEST1 gene.

Choroideremia

An X-linked inherited retinal degeneration causing progressive atrophy of the choroid, retinal pigment epithelium, and photoreceptors, leading to night blindness and vision loss.

Achromatopsia

A congenital cone photoreceptor disorder causing absent color vision, severe photophobia, nystagmus, and reduced visual acuity from infancy.

Congenital Stationary Night Blindness

An inherited retinal disorder characterized by lifelong night blindness resulting from abnormal retinal signal transmission without progressive photoreceptor degeneration.

Leber Congenital Amaurosis

A severe inherited retinal dystrophy presenting in infancy with profound vision loss, nystagmus, poor pupillary responses, and markedly reduced or absent electroretinogram responses.

X-linked Retinoschisis

An X-linked inherited vitreoretinal disorder characterized by splitting of the retinal layers, reduced central vision, and an increased risk of retinal detachment and vitreous hemorrhage.

Cone Dystrophy

An inherited retinal dystrophy causing progressive central vision loss, impaired color vision, photophobia, and reduced cone photoreceptor function.

Cone-Rod Dystrophy

An inherited retinal degeneration in which cone dysfunction precedes rod degeneration, leading to decreased visual acuity, color vision loss, photophobia, and progressive peripheral vision impairment.

Rod-Cone Dystrophy

An inherited retinal degeneration beginning with rod photoreceptor dysfunction, causing night blindness and peripheral visual field loss before progressive cone involvement.

Pattern Dystrophy

An inherited macular dystrophy characterized by distinctive pigment deposition within the retinal pigment epithelium, resulting in gradual central vision impairment.

Adult-Onset Vitelliform Macular Dystrophy

An inherited macular disorder characterized by yellow subfoveal vitelliform deposits that typically present in adulthood with slowly progressive central vision loss.

Bietti Crystalline Dystrophy

A rare autosomal recessive retinal degeneration characterized by crystalline deposits within the retina and progressive chorioretinal atrophy leading to visual decline.

Enhanced S-Cone Syndrome

A rare inherited retinal disorder caused by abnormal photoreceptor development, characterized by enhanced blue-cone function, night blindness, and progressive retinal degeneration.

Fundus Albipunctatus

A rare inherited retinal disorder characterized by congenital stationary night blindness, delayed dark adaptation, and numerous white-yellow retinal flecks throughout the fundus.

Oguchi Disease

A rare form of congenital stationary night blindness characterized by the Mizuo-Nakamura phenomenon, in which the abnormal golden retinal sheen disappears after prolonged dark adaptation.

Gyrate Atrophy

An autosomal recessive chorioretinal degeneration caused by ornithine aminotransferase deficiency, resulting in progressive night blindness, peripheral vision loss, and scalloped areas of chorioretinal atrophy.

Wagner Syndrome

An autosomal dominant vitreoretinal dystrophy characterized by an optically empty vitreous, progressive chorioretinal degeneration, cataracts, and an increased risk of retinal detachment.

Sorsby Fundus Dystrophy

An autosomal dominant macular dystrophy caused by TIMP3 mutations, characterized by progressive central vision loss and an increased risk of choroidal neovascularization in early adulthood.

North Carolina Macular Dystrophy

An autosomal dominant congenital macular dystrophy characterized by non-progressive bilateral macular abnormalities ranging from small drusen-like lesions to large coloboma-like excavations.

Doyne Honeycomb Retinal Dystrophy

An autosomal dominant macular dystrophy, also known as Malattia Leventinese, characterized by radial drusen deposits and progressive central vision loss due to EFEMP1 mutations.

Familial Exudative Vitreoretinopathy (FEVR)

An inherited disorder of incomplete peripheral retinal vascular development that may lead to neovascularization, exudation, vitreoretinal traction, and retinal detachment.

Norrie Disease

An X-linked genetic disorder characterized by congenital retinal dysplasia causing blindness, frequently associated with progressive sensorineural hearing loss and developmental impairment.

Coats Plus Syndrome

A rare inherited multisystem disorder characterized by Coats-like retinal telangiectasia and exudation, intracranial calcifications, bone marrow failure, and gastrointestinal abnormalities.

Usher Syndrome

An inherited disorder characterized by retinitis pigmentosa combined with congenital or progressive sensorineural hearing loss and, in some subtypes, vestibular dysfunction.

Marfan Syndrome

An autosomal dominant connective tissue disorder caused by FBN1 mutations, commonly associated with ectopia lentis, high myopia, retinal detachment, and aortic root dilation.

Stickler Syndrome

An inherited collagen disorder characterized by high myopia, vitreoretinal degeneration, retinal detachment, cataracts, hearing loss, and craniofacial abnormalities.

Albinism

A group of inherited disorders affecting melanin production, characterized by foveal hypoplasia, nystagmus, iris transillumination defects, reduced visual acuity, and abnormal optic nerve decussation.

Refsum Disease

A rare autosomal recessive peroxisomal disorder caused by impaired phytanic acid metabolism, characterized by retinitis pigmentosa, peripheral neuropathy, anosmia, hearing loss, cerebellar ataxia, and ichthyosis.

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