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;
Origin ID : C564392;
UMLS CUI : C1843816;
Automatic exact mappings (from CISMeF team)
- CISMeF manual mappings
- Currated CISMeF NLP mapping
- DO Cross reference
- MeSH term(s) associated for indexing
- ORDO relation(s)
- Record concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
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
false
true
false
France
scientific and technical information
bothnia retinal dystrophy
bothnia retinal dystrophy
retinal dystrophies
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