Ontology highlight
ABSTRACT:
SUBMITTER: Golovleva I
PROVIDER: S-EPMC4113316 | biostudies-literature | 2010
REPOSITORIES: biostudies-literature
Golovleva Irina I Köhn Linda L Burstedt Marie M Daiger Stephen S Sandgren Ola O
Advances in experimental medicine and biology 20100101
Retinal degenerations represent a heterogeneous group of disorders affecting the function of the retina. The frequency of retinitis pigmentosa (RP) is 1/3500 worldwide, however, in northern Sweden it is 1/2000 due to limited migration and a 'founder' effect. In this study we identified genetic mechanisms underlying autosomal dominant and recessive RP present in northern Sweden. Several novel mutations unique for this region were found. In an autosomal recessive form of RP, Bothnia dystrophy caus ...[more]