Bothnia retina dystrophy: Difference between revisions
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(Created page with "__NOTOC__ {{CMG}} {{AE}}{{JC}} ==Overview== Inheritance is Autosomal recessive,Night blindness, Retinitis punctata albescens, Macular degeneration, Abnormal ERG.Night blindnes...") |
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__NOTOC__ | __NOTOC__ | ||
{{CMG}} {{AE}}{{JC}} | {{CMG}} {{AE}}{{JC}} | ||
==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 ERG.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. | |||
==Pathogenesis== | |||
Bothnia retina dystrophy molecular basis caused by mutations in the cellular retinaldehyde-binding protein-1 gene (RLBP1). | |||
Revision as of 17:47, 21 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]
Overview
Bothnia retina dystrophy is inherited as an autosomal recessive disease with characteristic features of night blindness, retinitis punctata albescens, macular degeneration and 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, fundus albipunctatus, autosomal recessive retinitis pigmentosa, Newfoundland rod-cone dystrophy.
Pathogenesis
Bothnia retina dystrophy molecular basis caused by mutations in the cellular retinaldehyde-binding protein-1 gene (RLBP1).