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- W4286511462 abstract "Unilateral cataract can cause pediatric vision impairment. Although the majority of unilateral cataracts are idiopathic in nature, genetic causes have been reported. We present the case of a 4-week-old child of nonconsanguineous parents who was affected with unilateral cataract. Whole-genome sequencing using DNA extracted from blood and the lens epithelial cells following cataract surgery revealed two presumed pathogenic variants in the TRPM1 gene, the founding member of the melanoma-related transient receptor potential (TRPM) subfamily. TRPM1 is responsible for regulating cation influx to hyperpolarized retinal ON bipolar cells, and mutations in this gene are a major cause of autosomal recessive congenital stationary night blindness (CSNB). Electroretinography revealed findings consistent with CSNB, a phenotype that was not initially suspected, and which would likely have been missed without genome sequencing. It remains unclear whether the TRPM1 variants are associated with the cataract phenotype." @default.
- W4286511462 created "2022-07-22" @default.
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- W4286511462 date "2022-08-01" @default.
- W4286511462 modified "2023-10-10" @default.
- W4286511462 title "Unilateral cataract and congenital stationary night blindness in a child with novel variants in TRPM1" @default.
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- W4286511462 doi "https://doi.org/10.1016/j.jaapos.2022.03.013" @default.
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