title: A case of CRB1-negative Coats-like retinitis pigmentosa.
abstract: Retinitis pigmentosa is a heterogeneous group of ocular diseases that causes progressive degeneration of the photoreceptor cells mainly affecting the rods of the peripheral retina. The association between retinitis pigmentosa and exudative retinopathy was first described in 1956 and has been called "Coats-like retinitis pigmentosa." Mutations in the Crumbs homolog 1 (CRB1) gene have been reported as a risk factor for developing Coats-like changes in patients with autosomal recessive retinitis pigmentosa. We report the case of a 15-year-old girl affected by CRB1 gene-negative retinitis pigmentosa and Coats-like exudative vasculopathy who was successfully treated with laser photocoagulation.
authors.affiliation: Department of Ophthalmology, University of Udine, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Sarao
authors.forename: Daniele
authors.initials: D
authors.lastname: Veritti
authors.forename: Raffaele
authors.initials: R
authors.lastname: Prosperi
authors.forename: Silvia
authors.initials: S
authors.lastname: Pignatto
authors.forename: Paolo
authors.initials: P
authors.lastname: Lanzetta
mesh_terms: D000293:Adolescent; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D028022:Low-Level Light Therapy; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000628:therapy; D016896:Treatment Outcome
chemical_list: C448939:CRB1 protein, human; D005136:Eye Proteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins