A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy.

Eye
Rola Ba-AbbadAndrew R Webster

Abstract

To describe the clinical and electrophysiological features of adult-onset macular dystrophy, due to novel combinations of CDHR1 alleles, and compare the associated phenotypes with previous reports. The clinical records of patients with macular dystrophy and biallelic variants in CDHR1 were reviewed. Data analysed included best corrected visual acuity (BCVA), fundus images: autofluorescence (AF) and optical coherence tomography (OCT); full field electroretinography (ERG) and pattern ERG (PERG). Seven patients from six pedigrees were ascertained. One patient was homozygous for a known synonymous variant p.(Pro261=), four were compound heterozygous for the p.(Pro261=) variant and a novel allele of CDHR1: p.(Gly188Ser), p.(Met1?), or p.(Val458Asp); one patient was compound heterozygous for two previously unreported variants: c.297+1G>T in trans with p.(Pro735Thr). The range of BCVA at the last clinic review was (6/5-6/60). Autofluorescence showed macular flecks of increased AF in mild cases and patches of reduced AF in severe cases. The OCT showed attenuation of the ellipsoid zone (EZ) in mild cases and loss of the EZ and the outer nuclear layer in severe cases; one patient had subfoveal hyporeflective region between the EZ and the...Continue Reading

References

Sep 5, 2008·The Journal of Clinical Investigation·Shao H YangLoren G Fong
Sep 2, 2010·Journal of Medical Genetics·E OstergaardT Rosenberg
Nov 1, 2011·Documenta Ophthalmologica. Advances in Ophthalmology·Donald C HoodUNKNOWN International Society For Clinical Electrophysiology of Vision
Oct 18, 2012·Documenta Ophthalmologica. Advances in Ophthalmology·Michael BachSuresh Viswanathan
Jun 11, 2015·Documenta Ophthalmologica. Advances in Ophthalmology·Daphne L McCullochMichael Bach
Aug 3, 2017·Scientific Reports·Katarina StinglNicole Weisschuh
Oct 3, 2017·Human Mutation·Alessia FiorentinoUNKNOWN 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium
Feb 6, 2019·Scientific Reports·Cathrine JespersgaardKaren Grønskov

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Citations

Oct 3, 2020·Eye·Imran H YusufPeter Charbel Issa

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