Ontology highlight
ABSTRACT:
SUBMITTER: Cukras C
PROVIDER: S-EPMC3506607 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Cukras Catherine C Gaasterland Terry T Lee Pauline P Gudiseva Harini V HV Chavali Venkata R M VR Pullakhandam Raghu R Maranhao Bruno B Edsall Lee L Soares Sandra S Reddy G Bhanuprakash GB Sieving Paul A PA Ayyagari Radha R
PloS one 20121126 11
Retinitis Pigmentosa (RP) is a common form of retinal degeneration characterized by photoreceptor degeneration and retinal pigment epithelium (RPE) atrophy causing loss of visual field and acuities. Exome sequencing identified a novel homozygous splice site variant (c.111+1G>A) in the gene encoding retinol binding protein 4 (RBP4). This change segregated with early onset, progressive, and severe autosomal recessive retinitis pigmentosa (arRP) in an eight member consanguineous pedigree of Europea ...[more]