Abstract：
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.
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.
摘要：
迄今为止，据报道，遗传证实的遗传性青少年视网膜裂伤的遗传模式是X连锁隐性遗传，女性病例数量有限。我们确定了一个女性患者的视网膜裂开,本研究报告了该家族的临床特征以及潜在的遗传缺陷。
进行详细的家族史和家系分析。所有受影响的受试者都接受了详细的眼科检查，包括最佳矫正视力（BCVA），扩张眼底镜检查，光学相干层析成像（OCT）和眼底自发荧光（FAF）。通过下一代测序(NGS)对先证者的DNA样品进行测序。进行Sanger测序以进行验证和分离。
在这个近亲家庭中确认了三名受影响的受试者，包括一名女性和两名男性。BCVA范围从20/50到手部运动。Foveoschisis,远视,囊下白内障，玻璃体混浊,视网膜色素沉着,三个病人都有黄斑萎缩,具有可变的严重性。眼球震颤,内斜视,女性患者出现视网膜血管转位。女性患者及其受影响的兄弟发生了视网膜脱离。RS1基因c.97delT中的小缺失（p。发现W33Gfs*93)(NM_000330.3)，在谱系中被共同隔离。
具有XLRS女性患者的近亲家庭可能表现为伪显性遗传。揭示了显着的家族内表型变异。
进行详细的家族史和家系分析。所有受影响的受试者都接受了详细的眼科检查，包括最佳矫正视力（BCVA），扩张眼底镜检查，光学相干层析成像（OCT）和眼底自发荧光（FAF）。通过下一代测序(NGS)对先证者的DNA样品进行测序。进行Sanger测序以进行验证和分离。
在这个近亲家庭中确认了三名受影响的受试者，包括一名女性和两名男性。BCVA范围从20/50到手部运动。Foveoschisis,远视,囊下白内障，玻璃体混浊,视网膜色素沉着,三个病人都有黄斑萎缩,具有可变的严重性。眼球震颤,内斜视,女性患者出现视网膜血管转位。女性患者及其受影响的兄弟发生了视网膜脱离。RS1基因c.97delT中的小缺失（p。发现W33Gfs*93)(NM_000330.3)，在谱系中被共同隔离。
具有XLRS女性患者的近亲家庭可能表现为伪显性遗传。揭示了显着的家族内表型变异。
