Bothnia retina dystrophy
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]
Overview
Inheritance is Autosomal recessive,Night blindness, Retinitis punctata albescens, Macular degeneration, Abnormal ERG.Night blindness from early childhood, Retinitis punctata albescens and macular degeneration starting in late childhood to early teens, Allelic to retinitis punctata albescens (136880), fundus albipunctatus, autosomal recessive retinitis pigmentosa, Newfoundland rod-cone dystrophy. Molecular Basic Caused by mutations in the cellular retinaldehyde-binding protein-1 gene (RLBP1).