Detection of mosaic retinal dysfunction in choroideremia carriers electroretinographic and psychophysical testing

Ophthalmology
Thasarat S VajaranantWilliam Seiple

Abstract

To test whether choroideremia carriers have a mosaic pattern of retinal dysfunction, as noted in carriers of X-linked recessive retinitis pigmentosa and X-linked retinoschisis. Prospective observational case series. Seven obligate choroideremia carriers (age range, 18-72) with visual acuity (VA) of 20/25 or better were recruited into the study. The carriers underwent VA testing (Snellen chart), ophthalmic examination, Humphrey visual field (VF), and multifocal electroretinographic testing. The amplitude and implicit time scales were measured by the algorithm of Hood and Li. The amplitude measures (a scales) and implicit time measures (t scales) were reported abnormal when they were >2 standard deviations above the mean of age-similar normally sighted control subjects. Mapping of local 103 electroretinographic response amplitudes and implicit times. Only 1 of the 7 carriers showed abnormal Humphrey VF thresholds, whereas 6 of the 7 carriers showed a mosaic pattern of retinal dysfunction measured by multifocal electroretinographic testing. All 6 carriers showed statistically significant implicit time delays, whereas 4 carriers showed statistically significant amplitude reductions and implicit time delays (P<0.05 to P<0.0006). One...Continue Reading

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Citations

Jan 10, 2013·Investigative Ophthalmology & Visual Science·Reema SyedJacque L Duncan
Dec 25, 2013·Journal of Community Genetics·Barbara PotrataJenny Hewison
Jul 22, 2009·Current Opinion in Ophthalmology·Joanne E Sutherland, Megan A Day
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Oct 22, 2008·Ophthalmology·Carsten H MeyerPeter Kroll
Nov 9, 2011·Ophthalmic Genetics·Razek Georges CoussaElias I Traboulsi
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Jul 3, 2013·American Journal of Ophthalmology·Vasiliki KalatzisUNKNOWN First International Choroideremia Research Symposium
Sep 7, 2016·Retinal Cases & Brief Reports·Kevin K MaStephen H Tsang
May 18, 2019·Ophthalmic Surgery, Lasers & Imaging Retina·Katherine J WertVinit B Mahajan
Nov 12, 2010·Ophthalmic Genetics·Azzrah ThobaniGerald A Fishman
Aug 8, 2015·Expert Opinion on Orphan Drugs·Ioannis S DimopoulosIan M MacDonald
Sep 10, 2019·Investigative Ophthalmology & Visual Science·Maarjaliis PaavoJanet R Sparrow
Jul 29, 2017·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Vittoria MurroStanislao Rizzo
Aug 30, 2020·Progress in Retinal and Eye Research·Samantha R De SilvaOmar A Mahroo

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