Brief reportConsanguineous marriage resulting in homozygous occurrence of X-linked retinoschisis in girls☆
References (2)
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis
Hum Mol Genet
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Autosomal juvenile retinoschisis without foveal retinoschisis
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Cited by (34)
Typical and atypical clinical presentations of X-Linked retinoschisis: A case series and literature review
2023, Survey of OphthalmologyThe X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies
2021, Progress in Retinal and Eye ResearchCitation Excerpt :There are a few reports of abnormalities on specific electrophysiological testing protocols in some carriers such as areas of dysfunction on multifocal ERG (Kim et al., 2007) or timing of 8Hz flicker ERG responses (McAnany et al., 2016). A few females however have been reported to manifest XLRS, all from consanguineous families and found on genetic testing to have homozygous variants in RS1 (Ali et al., 2003; Gliem et al., 2014; Rodriguez et al., 2005; Saleheen et al., 2008). Carbonic anhydrase inhibitors (CAIs) have been widely used in patients with XLRS (and also in macular oedema associated with RP) with the aim of reducing intraretinal cysts.
Stellate nonhereditary idiopathic foveomacular retinoschisis
2014, OphthalmologyCitation Excerpt :Given the inheritance pattern, the phenotypic manifestations of this genetic disorder are almost exclusively found in male patients; however, affected female patients rarely have been reported. Women with homozygous mutations,22,23 XO (Turner syndrome),24 and carrier states25,26 have all been described. None of the patients in our series tested positive for a known mutation or had a positive family history for CXLR.
Long-term outcomes of vitrectomy for progressive x-linked retinoschisis
2012, American Journal of OphthalmologyX-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms
2012, Progress in Retinal and Eye ResearchCitation Excerpt :Retinal alterations and ERG abnormalities were variable. Six affected woman were in fact homozygous carriers of disease mutations (Ali et al., 2003; Forsius et al., 1963; Saleheen et al., 2008). Vitreous hemorrhages or retinal detachment complicate the clinical course of XLRS in approximately 5% of all affected males and most frequently develop in the first decade of life.
Molecular analysis of the XLRS1 gene in 4 females affected with X-linked juvenile retinoschisis
2008, Canadian Journal of Ophthalmology
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Funded by the Ophthalmology Department of the Aga Khan University Hospital, Karachi, Pakistan.