R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family

[摘要] Purpose: We identified a large Chinesefamily with X-linked juvenile retinoschisis. The purpose of this studywas to report the clinical findings of the family and to identify thegenetic mutation by screening the retinoschisis 1 (RS1) gene. Methods: Family history was collectedand all family members underwent routine ophthalmic examination. Venousblood was collected from family members and genomic DNA was extracted.The exons of RS1 were screened by PCR followed by directsequencing and/or restriction enzyme digestion. Results: The pedigree of interest was afour-generation family with 52 family members, including seven affectedindividuals. The proband was a 5-year-old boy showing highly elevatedbullous retinoschisis with moderate vitreous hemorrhage in both eyes.Vitrectomy was performed in the left eye of the proband. Five affectedmales showed large peripheral retinoschisis in both eyes, eitherinvolving the macula or combined with foveal stellate cystic change.One of the affected family members showed only a foveal stellate cysticchange in both eyes without periphery retinoschisis. Visual acuity ofaffected individuals ranged from hand motion to 0.4. The R213W mutationin exon 6 of RS1 was identified in all affected individuals,predicting an amino acid substitution of arginine to tryptophan atcodon 213. Conclusions: Our data show that theR213W mutation in RS1 causes various severities ofretinoschisis in a large Chinese family, providing further evidence forX-linked juvenile retinoschisis phenotypic variability.

[学科分类] 生物化学/生物物理