inherited retinal dystrophy

Findings

No curated finding names inherited retinal dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• hereditary neurological disease
• retinal degeneration

Narrower terms (106)

• aceruloplasminemia
• age-related macular degeneration
• AIPL1-related retinopathy
• amaurosis-hypertrichosis syndrome
• ATF6-related retinopathy
• choroideremia
• choroideremia-deafness-obesity syndrome
• CNGB3-related retinopathy
• cone-rod dystrophy
• dystrophies primarily involving the retinal pigment epithelium
• ectopia lentis-chorioretinal dystrophy-myopia syndrome
• ELOVL4-related maculopathy
• familial benign flecked retina
• FLVCR1-related retinopathy with or without ataxia
• foveal hypoplasia-presenile cataract syndrome
• GUCY2D retinopathy
• helicoid peripapillary chorioretinal degeneration
• hereditary macular dystrophy
• infantile cerebellar-retinal degeneration

Resolves to: inherited retinal dystrophy

Also called

familial retinal dystrophygenetic retinal dystrophyhereditary retinal degenerationhereditary retinal dystrophyretinal dystrophy