Clinical and molecular characterization of females affected by <scp>X</scp>‐linked retinoschisis

Staffieri, Sandra E; Rose, Loreto; Chang, Andrew; Roach, John N. De; McLaren, Terri L.; Mackey, David A.; Hewitt, Alex W.; Lamey, Tina M.

doi:10.1111/ceo.12541

Cited by 7 publications

(7 citation statements)

References 23 publications

(46 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…XLRS has been reported in a limited number of studies in female children, particularly of consanguineous parents. 1 , 5 , 6 In our study, we report a family with consanguineous marriage from Turkey in which the father and oldest daughter (age 17) had macular atrophy and 2 other daughters (age 4 and 15) had active foveal retinoschisis with no peripheral retinoschisis, which had been misdiagnosed as idiopathic macular edema. Although foveal retinoschisis is detected in almost all patients, schisis and cystic changes disappear in some patients in adulthood, and a nonspecific macular appearance develops.…”

Section: Discussionmentioning

confidence: 90%

X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity

Önen¹,

Zor²,

Küçük³

et al. 2020

tjo

View full text Add to dashboard Cite

X-linked juvenile retinoschisis (XLRS) is a disease considered characteristic for males. In this study we report a consanguineous family in which 3 daughters were diagnosed with XLRS. Typical signs of XLRS were detected in 2 girls, aged 4 and 15. Fundoscopic examination of the father and the oldest daughter (age 17) revealed bilateral atrophic macula and retinal thinning. Although rare and considered characteristic for males, XLRS can be seen in females in Middle-East countries that have a high rate of consanguineous marriage. It can be overlooked by ophthalmologists and these patients may be misdiagnosed.

show abstract

Section: Discussionmentioning

confidence: 90%

X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity

Önen¹,

Zor²,

Küçük³

et al. 2020

tjo

View full text Add to dashboard Cite

show abstract

“…To date, there are fifteen reports describing 30 cases of XLRS in females in the literature [ 7 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 ] (see Table 1 for summary). The majority of cases (19 of 30) have been reported in families involving consanguineous unions [ 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 ]. They are either presumed, or demonstrated on molecular genetic analysis, to be homozygous or compound heterozygous for RS1 variants.…”

Section: Discussionmentioning

confidence: 99%

“…There are rare reports of female XLRS cases [ 7 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 ] and a review of these is found in our discussion. Whilst classically, XLRS heterozygous carrier females are considered asymptomatic with no clinical features [ 24 ], there are reports to the contrary in the literature [ 7 , 10 , 11 , 12 , 13 , 14 ].…”

Section: Introductionmentioning

confidence: 92%

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,

Halford,

Shanks

et al. 2023

Genes

View full text Add to dashboard Cite

show abstract

“…for the mutated gene (16). Almost all male patients with pathogenic RS1 variants feature splitting of the fovea; furthermore, <50% of patients have peripheral retinoschisis and the majority of peripheral splitting occurs in the subtemporal retina (17).…”

Section: Whole-exome Sequencing Identifies An Rs1 Variant In a Chinese Family With X-linked Retinoschisismentioning

confidence: 99%

Whole‑exome sequencing identifies an RS1 variant in a Chinese family with X‑linked retinoschisis

Chen

Zhu

2021

Exp Ther Med

View full text Add to dashboard Cite

A notable behavioural feature of X-linked retinoschisis (XLRS) is extensive structural schisis (splitting) of the outer plexiform and inner nuclear layers of the neurosensory retina, which is partly combined with complications related to vitreous hemorrhage, macular holes and retinal detachment. The present study aimed to identify the pathogenic gene mutation in a three-generation Chinese family with XLRS by whole-exome sequencing (WES). The clinical information of a three-generation Chinese family with cases of XLRS was collected. WES was performed for the proband. A comparison with the human reference genome sequence (hg38) and bioinformatic analysis were performed to reveal putative variants and Sanger sequencing was applied to verify mutations in this family and healthy control participants. Intraretinal cystic spaces were detected by optical coherence tomography imaging. Structures of the wild-type and mutant retinoschisin 1 (RS1) protein were modelled by PyMol. Almost all patients had a history of vision loss and abnormal blue-purple colour vision; however, the phenotypes of the 4 patients were distinctly different. There was no linear correlation between phenotypic severity and age. A recurrent RS1 (Xp22.2) mutation (NM_000330: c.559C>T) was detected, resulting in the p.Q187X variant. According to the protein model, this variant is likely pathogenic. The present study was the first to report that RS1:c.559C>T induces XLRS in a three-generation Chinese pedigree, with the mutation leading to premature termination of translation of the RS1 protein. WES was able to diagnose XLRS, which has the characteristics of clinical and genetic heterogeneity.

show abstract

Clinical and molecular characterization of females affected by X‐linked retinoschisis

Abstract: Clinical and genetic characterization of affected homozygous females in XLRS affords the rare opportunity to explore the molecular mechanisms of XLRS and the manifestation of these mutations as disease in humans.

Cited by 7 publications

References 23 publications

X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity

X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity

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

Whole‑exome sequencing identifies an RS1 variant in a Chinese family with X‑linked retinoschisis

Contact Info

Product

Resources

About