X-linked recessive retinitis pigmentosa. Clinical characteristics of carriers

Archives of Ophthalmology
G A FishmanT T McMahon

Abstract

We evaluated 46 carriers of X-linked recessive retinitis pigmentosa for the prevalence of fundus changes, refractive errors, central visual impairment, and electroretinographic abnormalities. Of the 46 carriers, 40 (87%) could be identified by characteristic fundus changes and 37 (86%) of 43 by reductions in electroretinographic amplitude. Interestingly, 36 carriers (78%) had a refractive cylindrical correction of +1.50 diopters (D) or greater in at least one eye, while 25 (54%) had a best corrected visual acuity of 20/30 or less in at least one eye. Fundus examination coupled with an electroretinographic recording was diagnostic of the carrier state in virtually all 46 patients. The presence of a refractive cylinder of +1.50 D or greater should appreciably increase the index of suspicion when assessing the possibility of the carrier state in X-linked retinitis pigmentosa.

Citations

Jun 17, 1998·Proceedings of the National Academy of Sciences of the United States of America·A V CideciyanS G Jacobson
Jan 15, 1988·American Journal of Ophthalmology·Y S RabinowitzM E Eyster
Sep 1, 1992·Journal of Medical Genetics·J KaplanP Lefrançois
Feb 1, 1994·The British Journal of Ophthalmology·F M MeireJ W Delleman
Nov 14, 1997·Journal of Medical Genetics·E SouiedJ Kaplan
Sep 30, 1999·The British Journal of Ophthalmology·C J FlaxelA C Bird
Sep 26, 2003·The British Journal of Ophthalmology·Y RotenstreichD G Birch
Mar 20, 2004·The British Journal of Ophthalmology·S S DandekarA J Hardcastle
Jun 3, 2006·Journal of Medical Genetics·A MelamudE I Traboulsi
Feb 28, 2013·European Journal of Human Genetics : EJHG·Sung Pyo ParkStanley Chang
Sep 7, 2006·Documenta Ophthalmologica. Advances in Ophthalmology·Enzo Maria VingoloEduardo Rispoli
Jan 1, 1991·American Journal of Medical Genetics·M WarburgL Tranebjaerg
Mar 30, 2002·Acta Ophthalmologica Scandinavica. Supplement·Marianne Haim
Oct 1, 2003·American Journal of Ophthalmology·Robert K KoenekoopGuy A Rouleau
Jul 6, 2015·Ophthalmology·Jason ComanderEliot L Berson
Mar 26, 2004·Clinical & Experimental Optometry : Journal of the Australian Optometrical Association·Michael Kalloniatis, Erica L Fletcher
Apr 1, 1994·Prenatal Diagnosis·M P IampieriB Dallapiccola
May 8, 2007·American Journal of Medical Genetics. Part a·Eyal BaninDror Sharon
Aug 15, 2018·Investigative Ophthalmology & Visual Science·Mays TalibCamiel J F Boon
Dec 30, 2006·Human Mutation·Xinhua ShuAlan F Wright
Apr 30, 2019·Ophthalmic Genetics·Hortensia Sanchez TocinoJavier Antonio Montero-Moreno
Jul 31, 2013·Current Opinion in Ophthalmology·Wadakarn WuthisiriAlex V Levin
Nov 17, 2017·The British Journal of Ophthalmology·Michalis GeorgiouMichel Michaelides
Jun 1, 1990·Ophthalmic Paediatrics and Genetics·M A Musarella
Jul 31, 2018·Expert Opinion on Orphan Drugs·Cristina Martinez-Fernandez De La CamaraRobert E MacLaren
Apr 1, 1990·Acta Ophthalmologica·S O Andréasson, B Ehinger
Dec 1, 1992·Ophthalmic Paediatrics and Genetics·L I van den BornE M Bleeker-Wagemakers
Dec 1, 1991·Clinical Genetics·N DahlP Goonewardena
Dec 1, 1990·Ophthalmic Paediatrics and Genetics·L van OschE M Bleekerwagemakers
Feb 24, 2021·Ophthalmic Genetics·David A KilgoreSami H Uwaydat

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