A novel mutation and phenotypes in phosphodiesterase 6 deficiency.

American Journal of Ophthalmology
Stephen H TsangRando Allikmets

Abstract

To develop a systematic approach for the molecular diagnosis of retinitis pigmentosa (RP) and to report new genotype-phenotype correlations for phosphodiesterase 6 (PDE6)-based RP mutations. Clinical and molecular studies on a retrospective case series. We screened 40 unrelated RP patients with an autosomal recessive RP microarray. Individuals with RP caused by PDE6 deficiency underwent genetic segregation and phenotype analysis. A disease-associated allele was identified in 32% of patients. Two probands (5%) had PDE6 mutations. The first proband was a compound heterozygote for known R102C and N216S alleles in PDE6A (MIM#180071). Pedigree analysis determined that the N216S variant was benign and direct sequencing discovered a novel, S303C allele. The second proband had a homozygous D600N mutation in the PDE6B gene (MIM#180072). Visual acuities of PDE6-deficient patients ranged from 20/40 to 20/200. Clinical studies showed unusual vitreomacular traction, cystoid macular edema, macular atrophy, and ring hyperfluorescence in PDE6-deficient patients. Such extensive vitreoretinal degeneration is not characteristic of photoreceptor-specific enzyme deficiencies. High-throughput deoxyribonucleic acid microarray chips can be used in com...Continue Reading

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Citations

Aug 16, 2013·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Richard J DavisStephen H Tsang
Dec 20, 2013·Documenta Ophthalmologica. Advances in Ophthalmology·Eva NongStephen H Tsang
Feb 13, 2016·Journal français d'ophtalmologie·A ChebilL El Matri
Feb 10, 2016·Molecular Therapy : the Journal of the American Society of Gene Therapy·Virginie PichardFabienne Rolling
Oct 16, 2010·Prenatal Diagnosis·Eneli OitmaaAndres Metspalu
Nov 1, 2016·Human Molecular Genetics·Lijuan ZhangStephen H Tsang
May 6, 2017·Human Molecular Genetics·Smriti A AgrawalMichael E Cheetham
Aug 29, 2018·Ophthalmic Genetics·Vitor K L TakahashiStephen H Tsang
Sep 17, 2020·Annual Review of Vision Science·Sarah J KarlenMarie E Burns
Nov 22, 2016·Scientific Reports·Imen HabibiLeila El Matri
Apr 29, 2020·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Ethan ZhangStephen H Tsang
Dec 28, 2019·International Journal of Molecular Sciences·Marianthi KaraliFrancesca Simonelli
Nov 15, 2016·The Journal of Clinical Investigation·Lijuan ZhangStephen H Tsang
Feb 7, 2020·EBioMedicine·Katherine J WertVinit B Mahajan
Mar 7, 2021·International Journal of Molecular Sciences·Laura KuehleweinSusanne Kohl
Nov 23, 2016·Scientific Reports·Imen HabibiLeila El Matri

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