Bothnia retinal dystrophy

Orpha code: 85128OMIM code: 607475

Definition

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
Classification

Disease

Synonyms
Västerbotten dystrophy
Dystrofia Västerbottena
ORPHA code
85128
OMIM code
607475
ICD10 code
H35.5
ICD11 code
-

No additional description.

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