Bothnia retina dystrophy

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]

Synonyms and Keywords: Vasterbotten dystrophy

Overview

Bothnia retina dystrophy is inherited as an autosomal recessive disease with characteristic features of night blindness, retinitis punctata albescens, macular degeneration and abnormal electroretinography (ERG).

Pathogenesis

Bothnia retina dystrophy molecular basis caused by mutations in the cellular retinaldehyde-binding protein-1 gene (RLBP1).

Diagnosis

Symptoms

Bothnia retina dystrophy is characterised by night blindness from early childhood, retinitis punctata albescens and macular degeneration starting in late childhood to early teens, allelic to retinitis punctata albescens, fundus albipunctatus, autosomal recessive retinitis pigmentosa, newfoundland rod-cone dystrophy.


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