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https://www.selleckchem.com/products/prostaglandin-e2-cervidil.html Purpose 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. Observations 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). Conclusions and importance 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 a definitive diagnosis. © 2020 The Authors.Purpose To assess the feasibility of imaging extremely low birth weight infants, defined as infants born weighing less than 1000 g or before 27 weeks of gestational age, with an arm-mounted optical coherence tomography angiography (OCTA) device. Methods Cross-sectional case series conducted at a single site in-patient academic center. Subjects included infants who had been born premature and met ROP screening criteria. Birth history such as gestational age and birth weight were collected. Subjects were imaged with OCTA in a supine position during ROP screening and treatment. Segmental er
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