Pseudodominance in two families with KCNV2 related retinopathy

American Journal of Ophthalmology Case Reports
Gulunay KirayAndrea L Vincent

Abstract

To describe the phenotypic and genotypic characteristics of two families with cone dystrophy with supernormal rod responses (CDSRR) presenting with a pseudodominant inheritance of disease. Three affected members from each family were ascertained. Family 1 of Egyptian ancestry showed consanguinity, and Family 2 was of Northern Iraqi ancestry. Both families showed pseudodominance in their pedigrees.Individuals presented with reduced visual acuity and nyctalopia. Macular disturbances were present in all, varying from a decreased foveal reflex to geographic atrophy. Electrophysiology showed reduced scotopic b-wave amplitudes and prolonged implicit times, and characteristic elevated b-wave amplitudes with high intensity flashes in all individuals.Genetic analysis of Family 1 identified a complete homozygous deletion of the KCNV2 gene, and in Family 2 a homozygous missense variation of c.562T > A: p.(Trp188Arg). To our knowledge this is the first report of pseudodominance of CDSRR, with a novel pathogenic KCNV2 variant present in the second family. Clinicians evaluating these individuals should consider autosomal recessive disease manifesting as pseudodominant inheritance. In such cases, electrophysiology remains essential for making...Continue Reading

Citations

Aug 29, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Sarah HullAndrea L Vincent

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