Brief report
Consanguineous marriage resulting in homozygous occurrence of X-linked retinoschisis in girls

https://doi.org/10.1016/S0002-9394(03)00448-3Get rights and content

Abstract

Purpose

To investigate a family afflicted with X-linked retinoschisis and to determine the pedigree leading to such an occurrence.

Design

Observational case series.

Methods

Visual acuities were measured at The Aga Khan University Hospital Ophthalmology clinic. Slit-lamp examination, direct and indirect ophthalmoscopies were performed on each of the seven members of this family. The pedigree was established by appropriate questioning about the rest of their family.

Results

The pedigree revealed the homozygosity of the four daughters for the XLRS mutations borne out of the consanguineous marriage between an affected father and a carrier mother.

Conclusions

This is the first report showing that consanguineous marriages lead to homozygous pairing of XLRS genes in female children, as concluded after a MEDLINE search.

References (2)

  • Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis

    Hum Mol Genet

    (1998)
  • K. Yamaguchi et al.

    Autosomal juvenile retinoschisis without foveal retinoschisis

    Br J Ophthalmol

    (1989)

Cited by (34)

  • The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies

    2021, Progress in Retinal and Eye Research
    Citation 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, Ophthalmology
    Citation 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.

  • X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms

    2012, Progress in Retinal and Eye Research
    Citation 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.

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Funded by the Ophthalmology Department of the Aga Khan University Hospital, Karachi, Pakistan.

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