Bothnia retina dystrophy: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{CMG}} {{AE}}{{JC}} | {{CMG}} {{AE}}{{JC}} | ||
{{SK}} Vasterbotten dystrophy | |||
==Overview== | ==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. | |||
Latest revision as of 20:32, 22 December 2015
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.