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Abstract #128200 Published in IGR 25-3
Case report of a CRYGS gene mutation in a patient with congenital cataracts and secondary glaucoma
Li W; Chen FAmerican journal of translational research 2025; 17: 6257-6261
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 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.
Department of Ophthalmology, Union Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology Wuhan 430022, Hubei, China.
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