Associated Papers
Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis.
Elbagoury NM et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2025
Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.
Lopez-de la Rosa A et al.
Orphanet Journal of Rare Diseases, 2024
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation.
Kirkby J et al.
Genes, 2023
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Bender C et al.
Genes, 2022
35456481 (PubMed )
Supplement: genes-13-00675-s001.zip › genes-1649451-supplementary.xlsx › Supplementary_Table_S2
X-linked juvenile retinoschisis in females and response to carbonic anhydrase inhibitors: case report and review of the literature.
Ali S et al.
Seminars in Ophthalmology, 2013
X-linked retinoschisis: an update.
Sikkink SK et al.
Journal of Medical Genetics, 2007
X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.
Saldana M et al.
American Journal of Medical Genetics. Part A, 2007
X-linked retinoschisis in three females from the same family: a phenotype-genotype correlation.
Rodríguez FJ et al.
Retina (philadelphia, Pa.), 2005
A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation.
Mendoza-Londono R et al.
Ophthalmic Genetics, 1999
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