Inherited Retinal Disease Profiles

The most common inherited retinal dystrophy, causing progressive rod then cone degeneration with night blindness and tunnel vision.

Inherited retinal dystrophies where cone photoreceptors are affected first, followed by rod degeneration and peripheral field loss.

The most severe inherited retinal dystrophy, causing profound vision loss from birth or early infancy across 20+ gene subtypes.

Rare NR2E3-associated dystrophy with overabundance of blue-sensitive cones, night blindness, and retinoschisis-like changes.

CYP4V2-associated chorioretinal dystrophy with glistening crystalline deposits, more prevalent in East Asian populations.

OAT enzyme deficiency causing ornithine accumulation, circular chorioretinal atrophy, and progressive visual field loss.

The most common inherited macular degeneration, causing central vision loss typically in childhood or adolescence.

BEST1-associated vitelliform macular dystrophy with a characteristic egg-yolk lesion and variable central vision loss.

Later-onset vitelliform macular dystrophy caused by BEST1, PRPH2, or IMPG1/2 mutations, often misdiagnosed as AMD.

TIMP3-associated macular degeneration with rapid central vision loss from choroidal neovascularization, resembling AMD.

Congenital, stationary macular dystrophy caused by regulatory mutations near PRDM13; non-progressive after childhood.

EFEMP1 Arg345Trp founder mutation causing honeycomb drusen pattern and progressive macular atrophy, a model for AMD research.

PRPH2-associated macular disorders with distinctive pigment patterns (butterfly, reticular, vitelliform) and variable visual loss.

Early-onset drusen formation including Doyne honeycomb (EFEMP1) and dominant drusen (C1QTNF5), closely mimicking AMD.

Bilateral parafoveal telangiectasia and photoreceptor degeneration linked to serine metabolism; oral serine supplementation shows promise.

Congenital, stationary cone dysfunction causing complete color blindness, photophobia, nystagmus, and reduced visual acuity.

Non-progressive night blindness from birth caused by ON-bipolar cell signaling defects; multiple X-linked and AR subtypes.

RDH5-associated stationary night blindness with distinctive white dot fundus appearance and markedly prolonged dark adaptation.

Stationary night blindness with pathognomonic golden fundus discoloration (Mizuo-Nakamura phenomenon) caused by SAG or GRK1 mutations.

The leading cause of combined deaf-blindness, combining sensorineural hearing loss with retinitis pigmentosa across three clinical types.

A ciliopathy with retinal dystrophy as a primary feature, along with obesity, polydactyly, renal anomalies, and learning difficulties.

ALMS1 ciliopathy with cone-rod dystrophy, sensorineural hearing loss, obesity, cardiomyopathy, and multi-organ fibrosis.

Ciliopathy defined by the molar tooth sign on MRI, hypotonia, developmental delay, and retinal dystrophy in ~30% of patients.

Ciliopathy combining nephronophthisis (juvenile renal failure) with retinal dystrophy caused by NPHP gene mutations.

WFS1/CISD2-associated neurodegenerative disorder (DIDMOAD) with diabetes mellitus, optic atrophy, deafness, and diabetes insipidus.

Mitochondrial DNA disorder causing acute bilateral central vision loss predominantly in young males; gene therapy now approved in Europe.

The most common hereditary optic neuropathy; OPA1 mutations cause insidious bilateral central vision loss from childhood with temporal disc pallor.

RS1-associated splitting of retinal layers causing reduced central vision in males from early childhood; gene therapy in clinical trials.

X-linked progressive degeneration of the choroid, RPE, and photoreceptors; gene therapy trials have shown sustained visual benefit.

The most common inherited vitreoretinal degeneration; collagen gene mutations cause high myopia, retinal detachment risk, and hearing loss.

Norrin/Wnt pathway disorder causing peripheral retinal avascularity, fibrovascular proliferation, and retinal detachment in severe cases.

X-linked NDP mutation causing bilateral congenital blindness from retinal dysplasia, with progressive hearing loss in ~30% of patients.

VCAN (versican) splice-site mutations causing optically empty vitreous, chorioretinal atrophy, night blindness, and myopia.

COL18A1 mutations causing high myopia, vitreoretinal degeneration, early retinal detachment, and occipital encephalocele.

ABCC6-associated ectopic calcification causing angioid streaks, choroidal neovascularization, and cardiovascular complications.

X-linked dominant IKBKG disorder with staged skin lesions, dental anomalies, and proliferative retinopathy in ~35% of affected females.

PRPH2 and TEAD1-associated progressive choroidal atrophy including central areolar and helicoid peripapillary forms.