Case report of a CRYGS gene mutation in a patient with congenital cataracts and secondary glaucoma

一例先天性白内障合并继发性青光眼患者的CRYGS基因突变病例报告

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Abstract

Congenital cataracts are a major cause of visual impairment in infants and young children, with glaucoma being a frequent complication after cataract surgery. Here, we report a case of congenital cataracts accompanied by secondary glaucoma following surgery and we preliminarily investigate the genetic etiology. Comprehensive physical examination was performed, and genomic DNA extracted from the patient's was subjected to exome sequencing. A heterozygous variant of uncertain significance in the CRYGS gene (c.409T>C: p.Trp137Arg), associated with autosomal dominant polymorphic cataract, was identified. Familial segregation analysis indicated maternal inheritance, with a 50% transmission risk to future offspring.

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