Details of Disease

General Information of Disease (ID: DISYEI1M)

Disease Name Bothnia retinal dystrophy
Synonyms Bothnia retinal dystrophy; VC$sterbotten dystrophy; Vasterbotten dystrophy; Vsterbotten dystrophy
Definition
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.
Disease Hierarchy
DIS5F8BY: RLBP1-related retinopathy
DISYEI1M: Bothnia retinal dystrophy
Disease Identifiers
MONDO ID
MONDO_0011838
MESH ID
C564392
UMLS CUI
C1843816
OMIM ID
607475
MedGen ID
334499
Orphanet ID
85128
SNOMED CT ID
715647007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RLBP1 OTCY4D6B Definitive Autosomal recessive [1]
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References

1 Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1. Invest Ophthalmol Vis Sci. 2008 Jul;49(7):3172-7. doi: 10.1167/iovs.07-1664. Epub 2008 Mar 14.