Birtel, Johannes, Gliem, Martin, Oishi, Akio ORCID: 0000-0002-0977-9458, Mueller, Philipp L., Herrmann, Philipp, Holz, Frank G., Mangold, Elisabeth, Knapp, Michael, Bolz, Hanno J. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2019). Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases. Clin. Exp. Ophthalmol., 47 (6). S. 779 - 787. HOBOKEN: WILEY. ISSN 1442-9071

Full text not available from this repository.

Abstract

Importance Uncommon characteristics in genetically unsolved retinitis pigmentosa (RP) patients may indicate an incorrect clinical diagnosis or as yet unknown genetic causes resulting in specific retinal phenotypes. The diagnostic yield of targeted next-generation sequencing may be increased by a reasonable preselection of RP-patients. Background To systematically evaluate and compare features of genetically solved and unsolved RP-patients. Design Retrospective, observational study. Participants One-hundred and twelve consecutive RP-patients who underwent extensive molecular genetic analysis. Methods Characterization of patients based on multimodal imaging and medical history. Main Outcome Measures Differences between genetically solved and unsolved RP-patients. Results Compared to genetically solved patients (n = 77), genetically unsolved patients (n = 35) more frequently had an age of disease-onset above 30 years (60% vs 8%; P < 0.0001), showed atypical fundus features (49% vs 8%; P < 0. 0001) and indicators for phenocopies (eg, autoimmune diseases) (17% vs 0%; P < 0. 001). Evidence for a particular inheritance pattern was less common (20% vs 49%; P < 0. 01). The diagnostic yield was 84% (71/85) in patients with first symptoms below 30 years-of-age, compared to 69% (77/112) in the overall cohort. The other selection criteria alone or in combination resulted in limited further increase of the diagnostic yield (up to 89%) while excluding considerably more patients (up to 56%) from genetic testing. Conclusions and Relevance The medical history and retinal phenotype differ between genetically solved and a subgroup of unsolved RP-patients, which may reflect undetected genotypes or retinal conditions mimicking RP. Patient stratification may inform on the individual likelihood of identifying disease-causing mutations and may impact patient counselling.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Birtel, JohannesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gliem, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Oishi, AkioUNSPECIFIEDorcid.org/0000-0002-0977-9458UNSPECIFIED
Mueller, Philipp L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Herrmann, PhilippUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Holz, Frank G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mangold, ElisabethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Knapp, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bolz, Hanno J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Issa, Peter CharbelUNSPECIFIEDorcid.org/0000-0002-0351-6673UNSPECIFIED
URN: urn:nbn:de:hbz:38-145563
DOI: 10.1111/ceo.13516
Journal or Publication Title: Clin. Exp. Ophthalmol.
Volume: 47
Number: 6
Page Range: S. 779 - 787
Date: 2019
Publisher: WILEY
Place of Publication: HOBOKEN
ISSN: 1442-9071
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
COMPREHENSIVE MOLECULAR DIAGNOSIS; MUTATIONS; AUTOFLUORESCENCE; RETINOPATHY; PROBANDS; COHORTMultiple languages
OphthalmologyMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/14556

Downloads

Downloads per month over past year

Altmetric

Export

Actions (login required)

View Item View Item