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E. Mezer, E. Héon, S.L. Goei, J. Sutherland, A.V. Levin; The Utility of Molecular Testing for Retinitis Pigmentosa and Related Retinal Dystrophies . Invest. Ophthalmol. Vis. Sci. 2003;44(13):3103.
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Purpose: To describe our experience with molecular testing for retinitis pigmentosa (RP) and related retinal dystrophies with regards to its role in diagnosis, prognosis and genetic counseling. Methods: We reviewed the charts of 294 patients with retinal dystrophies who had blood sent for molecular genetic testing from 1993 to 2001. Tests for more than 1 gene were done for 261 subjects (88%). The genes that were tested for various clinical diagnosis included RHO (80.3%), RDS/Peripherin (71.8%), RP1-4H (32%), CRX (10.2%), RetGC (10.2%), RPE65 (9.9%), AIPL1 (8.8%), ROM 1 (7.5%), USH1B (3.4%), USH2A (2.7%), CRB1 (2%), RPGR (1.4%), NARP-A (1%), ABCR/A (0.7%), and RP2 (0.3%). Clinical profiles, electrophysiology testing and family history were reviewed in patients where mutations were identified. This information was further analyzed to determine whether molecular testing aided in the diagnosis, prognosis or genetic counseling. Results: DNA test results were received for only 165 (48%) of the tested subjects after an average time interval of 32 ± 18 months (median 32 months, range 1 to 89 months). Molecular results were obtained in 42 cases of LCA, 18 cases of Usher syndrome, and 234 cases of RP or nonspecific retinal dystrophy. Twenty cases (6%) were found to have sequence changes in RHO, RDS, RPE65, CRB1, or USH2A. Four cases had previously reported disease causing sequence changes, 2 had known polymorphic changes and 14 patients had 7 novel homozygous sequence changes. In only 2 (0.6%) cases the molecular diagnosis changed the clinical diagnosis: in 1 case from X linked recessive RP to autosomal dominant RP and in 1 case from Usher's syndrome to RP. Conclusions: Although molecular diagnosis for retinal dystrophies has contributed to our understanding of the pathogenesis of the disease, obstacles remain in bringing this research knowledge to the bedside including cost, availability, turn-around times, and undiscovered genes.
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