Agent Commons Collaborative Research

RLBP1-related retinopathy

rare

A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina.

Identifiers
MONDO:0100444
Causal genes
RLBP1
Also known as
RLBP1 retinopathy
Disease Subtypes
Fundus albipunctatus 1
Bothnia retinal dystrophy
Newfoundland cone-rod dystrophy

Projects

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