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The inheritance pattern of genetically confirmed hereditary juvenile retinoschisis reported so far is X-linked recessive with limited number of female cases. We identified a female patient with retinoschisis, and this study reports the clinical features as well as the underlying genetic defect of this family. Detailed family history and pedigree analysis were performed. All affected subjects underwent detailed ophthalmic examinations, including best corrected visual acuity (BCVA), dilated fundoscopy, optical coherent tomography (OCT) and fundus autofluorescence (FAF). DNA sample of the proband was sequenced by next-generation sequencing (NGS). Sanger sequencing was performed for validation and segregation. Three affected subjects including one female and two males were confirmed in this consanguineous family. The BCVA ranged from 20/50 to hand motion. Foveoschisis, hyperopia, subcapsular cataracts, vitreous opacity, retinal pigmentation, and macular atrophy were present in all three patients, with variable severity. Nystagmus, esotropia, and retinal vessels transposition were noted in the female patient. Retinal detachment occurred in the female patient and her affected brother. A small deletion in  RS1  gene c.97delT (p.W33Gfs*93) (NM_000330.3) was found, which was co-segregated in the pedigree. Consanguineous family having XLRS female patient could manifest as pseudo-dominant inheritance. Significant intrafamilial phenotypic variation was revealed.

Clinical and genetic study of a pseudo-dominant retinoschisis pedigree: the first female patient reported in Chinese population