Bullous X linked retinoschisis: clinical features and prognosis

Hinds, Anne-Marie; Fahim, Abigail T.; Moore, Anthony T.; Wong, Sui Chien; Michaelides, Michel

doi:10.1136/bjophthalmol-2017-310593

Cited by 21 publications

(13 citation statements)

References 9 publications

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“…Clinically, the disease is characterized in males by early-onset visual loss and bilateral foveal schisis due to splitting of the inner retinal layers; 33-60% of patients with XLRS also have peripheral retinoschisis [2][3][4]. Complications, such as retinal detachment, occur in 5-22% cases, and intraretinal haemorrhage within a schisis cavity or vitreous haemorrhage is present in approximately one third of patients [5][6][7].…”

Section: Introductionmentioning

confidence: 99%

Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population

Kousal

Hlavatá

Vlášková

et al. 2021

Genes

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The aim of this study was to identify RS1 pathogenic variants in Czech patients with X-linked retinoschisis (XLRS) and to describe the associated phenotypes, including natural history, in some cases. Twenty-one affected males from 17 families were included. The coding region of RS1 was directly sequenced and segregation of the identified mutations was performed in available family members. In total, 12 disease-causing variants within RS1 were identified; of these c.20del, c.275G>A, c.[375_379del; 386A>T], c.539C>A and c.575_576insT were novel, all predicted to be null alleles. The c.539C>A mutation occurred de novo. Three patients (aged 8, 11 and 19 years) were misdiagnosed as having intermediate uveitis and treated with systemic steroids. Repeat spectral domain optical coherence tomography examinations in four eyes documented the transition from cystoid macular lesions to macular atrophy in the fourth decade of life. Four individuals were treated with topical dorzolamide and in two of them, complete resolution of the cystic macular lesions bilaterally was achieved, while one patient was noncompliant. Rebound phenomenon after discontinuation of dorzolamide for 7 days was documented in one case. Misdiagnosis of XLRS for uveitis is not uncommon; therefore, identification of disease-causing variants is of considerable benefit to the affected individuals.

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Section: Introductionmentioning

confidence: 99%

Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population

Kousal

Hlavatá

Vlášková

et al. 2021

Genes

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“…On the one hand, some authors recommend observation since spontaneous resolution has been reported. 5,11 Conversely, Hinds et al 8 found that three of nine patients with bullous schisis developed a tractional retinal detachment during the follow-up, and PPV in bullous schisis can reduce the size of the schisis and limit its progression. 17 In our series, patients who underwent PPV for vitreous hemorrhage showed a decrease in the height of their schisis and bullous schisis decreased in two eyes and completely resolved in one eye.…”

Section: Discussionmentioning

confidence: 99%

Symptomatic Early-Onset X-Linked Retinoschisis

Piquin

Abdelmassih

Martin

et al. 2023

Retina

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“…Numerous studies have demonstrated that this is a disease that slowly progresses with age (37,38). Furthermore, individuals harbouring the RS1 mutation display various clinical symptoms, including central retinal split, with or without a peripheral retinal split, macular hole, macular edema, retinal degeneration, retinal hemorrhage, retinal detachment and high myopia (39). Genetic modification and environmental factors that may be involved and the specific mechanisms require to be further explored.…”

Section: Discussionmentioning

confidence: 99%

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

Chen

Zhu

2021

Exp Ther Med

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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.

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Bullous X linked retinoschisis: clinical features and prognosis

Cited by 21 publications

References 9 publications

Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population

Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population

Symptomatic Early-Onset X-Linked Retinoschisis

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

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