Macular Hole Secondary to X-Linked Juvenile Retinoschisis

Brasil, Oswaldo Ferreira Moura; Cunha, Anibal Luis Gomes da; Castro, Márcia Brazuna de; Japiassú, Ricardo Miguel

doi:10.3928/15428877-20110125-07

Cited by 10 publications

(3 citation statements)

References 4 publications

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“…20 The formation of MHs in XLRS, however, is a rare occurrence and has been found only in sporadic cases. 8,[21][22][23][24] Notably, all XLRS eyes exhibited both macular and peripheral retinoschisis in our cohort, which is similar to other two abovementioned major complications of XLRS. Two types of LMH in eyes with XLRS were identified: eyes with and eyes without intraschisis pillars.…”

Section: Discussionsupporting

confidence: 87%

An Eight-Year Retrospective Study of the Etiologies, Clinical Characteristics, and Visual Outcomes of Pediatric Lamellar Macular Hole

Liu,

Zhang,

Zhao

2023

Retina

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Purpose: To explore the etiologies, characteristics, and prognosis of lamellar macular hole (LMH) in pediatric patients. Methods: A consecutive series of 59 patients (62 eyes) aged <16 years with MHs (lamellar and full-thickness) treated from 2013 to 2021 in a tertiary center was reviewed. Data collected included demographic and clinical characteristics, management, and outcomes of patients presenting with LMH. Results: Twelve eyes (19.4%) of 11 children had LMH. Seven patients were male, with an average age of 6.9 years. The primary pathologies included X-linked retinoschisis in six eyes (50%); familial exudative vitreoretinopathy in two (16.7%); and ocular toxocariasis, Coats disease, persistent hyperplastic primary vitreous, and idiopathic LMH with associated lenticonus in one eye (8.3%) each. Four eyes (36.4%) showed tractional appearance and seven (63.6%) degenerative. All degenerative LMH showed ellipsoidal zone defect, significantly higher than that in the tractional group (25%, 1/4) (P = 0.024). Five eyes achieved closed LMH and limited visual gain, four underwent surgery, and one closed spontaneously. Conclusion: X-linked retinoschisis was the most frequent primary cause in pediatric LMH. Two types of LMH can be classified: tractional and degenerative. The latter showed a higher rate of ellipsoidal zone defect. Vision improved after LMH closed, regardless of surgery or spontaneous closure.

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Section: Discussionsupporting

confidence: 87%

An Eight-Year Retrospective Study of the Etiologies, Clinical Characteristics, and Visual Outcomes of Pediatric Lamellar Macular Hole

Liu,

Zhang,

Zhao

2023

Retina

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“…Results of retinal detachment surgery are of limited benefit even with advanced surgical techniques (Rosenfeld et al 1998). Macular holes secondary to XLRS have rarely been reported (Brasil et al, 2011; Shukla et al, 2006). …”

Section: Clinical Findings Of Congenital Xlrsmentioning

confidence: 99%

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

Molday

Kellner²,

Weber

2012

Progress in Retinal and Eye Research

270

272

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X-linked juvenile retinoschisis (XLRS, MIM 312700) is a common early onset macular degeneration in males characterized by mild to severe loss in visual acuity, splitting of retinal layers, and a reduction in the b-wave of the electroretinogram (ERG). The RS1 gene (MIM 300839) associated with the disease encodes retinoschisin, a 224 amino acid protein containing a discoidin domain as the major structural unit, an N-terminal cleavable signal sequence, and regions responsible for subunit oligomerization. Retinoschisin is secreted from retinal cells as a disulphide-linked homo-octameric complex which binds to the surface of photoreceptors and bipolar cells to help maintain the integrity of the retina. Over 190 disease-causing mutations in the RS1 gene are known with most mutations occurring as non-synonymous changes in the discoidin domain. Cell expression studies have shown that disease-associated missense mutations in the discoidin domain cause severe protein misfolding and retention in the endoplasmic reticulum, mutations in the signal sequence result in aberrant protein synthesis, and mutations in regions flanking the discoidin domain cause defective disulphide-linked subunit assembly, all of which produce a non-functional protein. Knockout mice deficient in retinoschisin have been generated and shown to display most of the characteristic features found in XLRS patients. Recombinant adeno-associated virus (rAAV) mediated delivery of the normal RS1 gene to the retina of young knockout mice result in long term retinoschisin expression and rescue of retinal structure and function providing a ‘proof of concept’ that gene therapy may be an effective treatment for XLRS.

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“…1 3 10-13 Factors found to be responsible for occurrence of macular hole in XLRS are foveal schisis, degenerative cysts, tangential traction, deroofing of the degenerative schitic cysts. [10][11][12][13][14] Cases with vitreoretinal traction leading to macular hole and retinal detachment have also been reported. 13 As per our knowledge, only one case of bilateral macular hole in XLRS with poor vision has been reported 14 Our case was found to have good visual…”

Section: Descriptionmentioning

confidence: 99%

Multimodal imaging of bilateral macular hole in X-linked retinoschisis

2020

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Macular Hole Secondary to X-Linked Juvenile Retinoschisis

Abstract: The authors describe a rare case of full-thickness macular hole formation in a 10-year-old boy with X-linked juvenile retinoschisis.

Cited by 10 publications

References 4 publications

An Eight-Year Retrospective Study of the Etiologies, Clinical Characteristics, and Visual Outcomes of Pediatric Lamellar Macular Hole

An Eight-Year Retrospective Study of the Etiologies, Clinical Characteristics, and Visual Outcomes of Pediatric Lamellar Macular Hole

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

Multimodal imaging of bilateral macular hole in X-linked retinoschisis

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