Genotype–Phenotype Associations in an X-Linked Retinoschisis Patient Cohort: The Molecular Dynamic Insight and a Promising SD-OCT Indicator

Wei, Xing; Li, Hui; Zhu, Tian; Sun, Zixi; Sui, Ruifang

doi:10.1167/iovs.65.2.17

Invest. Ophthalmol. Vis. Sci.

2024

DOI: 10.1167/iovs.65.2.17

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Genotype–Phenotype Associations in an X-Linked Retinoschisis Patient Cohort: The Molecular Dynamic Insight and a Promising SD-OCT Indicator

Xing Wei,

Hui Li,

Tian Zhu

et al.

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Novel unreported mutations in two cases of X-linked retinoschisis in Indian eye

Juneja,

Sen,

Saurabh

et al. 2024

Indian Journal of Ophthalmology - Case Reports

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We report two cases of X-linked retinoschisis (XLRS) with novel gene mutation. The first case revealed a hemizygous nonsense variant (c.440G>A) in exon 5 of the RS1 gene and the second case revealed a hemizygous missense variant (c.286T>G) in exon 4 of the RS1 gene. These gene mutations in XLRS are yet to be reported in published literature. Genetic mutations can have ethnic variations, and understanding novel mutations can help in genotype–phenotype correlation in a better way.

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Novel unreported mutations in two cases of X-linked retinoschisis in Indian eye

Juneja,

Sen,

Saurabh

et al. 2024

Indian Journal of Ophthalmology - Case Reports

View full text Add to dashboard Cite

show abstract

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Genotype–Phenotype Associations in an X-Linked Retinoschisis Patient Cohort: The Molecular Dynamic Insight and a Promising SD-OCT Indicator

Cited by 1 publication

References 50 publications

Novel unreported mutations in two cases of X-linked retinoschisis in Indian eye

Novel unreported mutations in two cases of X-linked retinoschisis in Indian eye

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