title: CRB1: one gene, many phenotypes.
abstract: Mutations in the CRB1 gene cause severe retinal degenerations, which may present as Leber congenital amaurosis, early onset retinal dystrophy, retinitis pigmentosa, or cone-rod dystrophy. Some clinical features should alert the ophthalmologist to the possibility of CRB1 disease. These features are nummular pigmentation of the retina, atrophic macula, retinal degeneration associated with Coats disease, and a unique form of retinitis pigmentosa named para-arteriolar preservation of the retinal pigment epithelium (PPRPE). Retinal degenerations associated with nanophthalmos and hyperopia, or with keratoconus, can serve as further clinical cues to mutations in CRB1. Despite this, no clear genotype-phenotype relationship has been established in CRB1 disease. In CRB1-disease, as in other inherited retinal degenerations (IRDs), it is essential to diagnose the specific disease-causing gene for the disease as genetic therapy has progressed considerably in the last few years and might be applicable.
authors.affiliation: Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston , Massachusetts , USA .
authors.forename: Miriam
authors.initials: M
authors.lastname: Ehrenberg
authors.forename: Eric A
authors.initials: EA
authors.lastname: Pierce
authors.forename: Gerald F
authors.initials: GF
authors.lastname: Cox
authors.forename: Anne B
authors.initials: AB
authors.lastname: Fulton
mesh_terms: D005136:Eye Proteins / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012162:Retinal Degeneration / Q000235:genetics* / Q000473:pathology
chemical_list: C448939:CRB1 protein, human; D005136:Eye Proteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins