Bothnia retinal dystrophy

Orpha code: 85128OMIM code: 607475

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
Västerbotten dystrophy
Dystrofia Västerbottena
Kod ORPHA
85128
Kod OMIM
607475
Kod ICD10
H35.5
Kod ICD11
-

No additional description.

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