Article
Heterozygous CRX R90W mutation-associated adult-onset macular dystrophy with phenotype analogous to benign concentric annular macular dystrophy.
Ophthalmic genetics - 1 Oct 2020
Ng Caleb C, Carrera William M, McDonald H Richard, Agarwal Anita
Abstract excerpt
Background Historically, CRX mutations have been associated with cone-rod dystrophy, cone dystrophy, Leber's congenital amaurosis, and retinitis pigmentosa. There is recent emerging evidence of an adult-onset macular dystrophy phenotype. We review the published literature and discuss the first case of heterozygous CRX R90 W macular dystrophy. Materials and Methods The patient received serial ophthalmic...
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