/severe early-childhood-onset retinal dystrophy

severe early-childhood-onset retinal dystrophy

Rare Disease

MONDO:0009549

Also Known As

EOSRDSECORDStargardt disease type 1early-onset severe retinal dystrophySTGD1Stargardt disease 1Stgdfundus flavimaculatusmacular Degeneration, juvenilemacular dystrophy with flecks, type 1retinal dystrophy, early-onset severe

Definition

Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy.