Preferred Label : bothnia retinal dystrophy;

Définition CISMeF : Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens (see this term) in the posterior pole are also noted.;

MeSH note : mutation in RLBP1;

MeSH synonym : vasterbotten dystrophy;

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Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens (see this term) in the posterior pole are also noted.

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=85128
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true
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France
scientific and technical information
bothnia retinal dystrophy
bothnia retinal dystrophy
retinal dystrophies

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27/04/2025


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