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severe early-childhood-onset retinal dystrophy

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Mondo Description 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.
Uniprot Description Autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course.
Mondo Term and Equivalent IDs
MONDO:0009549:  severe early-childhood-onset retinal dystrophy
Orphanet:364055: 
SCTID:716663009: