Logo image
Back
CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation
Journal article   Peer reviewed

CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation

Andrew J Lotery, Aslam Malik, S A Shami, M Sindhi, B Chohan, C Maqbool, Paula A Moore, M J Denton and Edwin M Stone
Ophthalmic genetics, Vol.22(3), pp.163-169
09/2001
DOI: 10.1076/opge.22.3.163.2222
PMID: 11559858

View Online

Abstract

To report a new phenotype in retinitis pigmentosa (RP) patients with CRB1 mutations at the RP12 locus. Thirty-seven patients from two Pakistani families with severe retinitis pigmentosa. Samples were screened with single-strand conformation polymorphism analysis followed by DNA sequencing of the coding sequence of the CRB1 gene. Two novel CRB1 mutations were discovered. No patients had evidence of preservation of the para-arteriolar retinal pigment epithelium (PPRPE) that has been previously reported in all cases of RP associated with CRB1 mutations. Patients with severe autosomal recessive (or simplex) RP who lack the finding of PPRPE should not be excluded from molecular analysis of CRB1 purely because they lack the clinical feature of PPRPE. This report illustrates that RP at the RP12 locus is not clinically uniform. The absence of PPRPE cannot be used to exclude CRB1 as a potential molecular explanation for RP.
 Polymerase Chain Reaction Drosophila Proteins Membrane Proteins - genetics Humans Retinitis Pigmentosa - genetics Genotype Male Mutation - genetics Polymorphism, Single-Stranded Conformational Arterioles - pathology DNA Mutational Analysis Pedigree Adolescent Age of Onset Pigment Epithelium of Eye - pathology Adult Female Retinitis Pigmentosa - pathology Fluorescein Angiography

Details

Metrics

27 Record Views
Logo image