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Bothnia retinal dystrophy

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description 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 in the posterior pole are also noted.
Uniprot Description A type of retinitis punctata albescens. Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration.
Disease Ontology Description A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene.
Mondo Term and Equivalent IDs
MONDO:0011838:  Bothnia retinal dystrophy
MESH:C564392: 
Orphanet:85128: 
SCTID:715647007: 
UMLS:C1843816: