Optical Coherence Tomography and Electrophysiology in X-Linked Juvenile Retinoschisis Associated With a Novel Mutation in the XLRS1 Gene

Stanga, P; Chong, Victor; Ac, Reck; Hardcastle, Alison J.; Holder, GE

doi:10.1097/00006982-200102000-00019

Cited by 35 publications

(19 citation statements)

References 4 publications

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“…The important role of OCT for diagnosis and monitoring of RS patients has been described previously [18,21,22,35,41,42]. Our study also emphasizes the value of OCT in the diagnosis of RS, although our series exhibits a wide variation in OCT findings.…”

Section: Discussionsupporting

confidence: 76%

“…Previous studies reported varied cone and 30 Hz flicker responses in RS. Some studies found reduced photopic b-wave amplitudes as well as reduced 30 Hz flicker responses [9,13,17,35], and others reported diverse results among patients in photopic b-wave amplitudes but reduced 30 Hz flicker responses [7,14], subnormal cone responses [10], or amplitude reduction over time [19]. In addition, normal cone and 30 Hz flicker responses were detected in RS patients, as well [20].…”

Section: Discussionmentioning

confidence: 99%

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ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT

et al. 2007

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Section: Discussionsupporting

confidence: 76%

Section: Discussionmentioning

confidence: 99%

ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT

et al. 2007

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“…OCT, on the other hand, proved to be a promising diagnostic method, as has been reported in several other studies. 15,18,19 The foveal intraretinal schisis could clearly be seen in all four patients. Yet, we do not recommend using the OCT as a key diagnostic test in XLRS.…”

Section: Discussionmentioning

confidence: 70%

Juvenile X-Linked Retinoschisis with Normal Scotopic b-Wave in the Electroretinogram at an Early Stage of the Disease

Eksandh

Andréasson

Abrahamson

2005

Ophthalmic Genetics

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Four young males with XLRS did not present with reduction in the scotopic b-wave amplitude on full-field ERG, which is otherwise often considered to be characteristic of the disease. Full-field ERG and molecular genetic analysis of the RS1 gene still remain the most important diagnostic tools for this retinal disorder, although the OCT can be a valuable complement in order to make the diagnosis at an early stage.

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“…Optic coherence tomography (OCT) has changed the diagnostic approach for XLRS (Apushkin et al, 2005a; Chan et al, 2004; Muscat et al, 2001; Prenner et al, 2006; Renner et al, 2008; Stanga et al, 2001; Urrets-Zavalia et al, 2007) and nowadays spectral domain OCT (SD-OCT) is the major diagnostic technique for this disease (Figure 1d). Even in an uncooperative child a single scan of the foveal area is sufficient to detect signs of XLRS and to distinguish XLRS from other differential diagnosis associated with visual loss in young boys (Dhingra and Patel, 2010; Eriksson et al, 2004; Renner et al, 2008).…”

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

265

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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Optical Coherence Tomography and Electrophysiology in X-Linked Juvenile Retinoschisis Associated With a Novel Mutation in the XLRS1 Gene

Cited by 35 publications

References 4 publications

ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT

ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT

Juvenile X-Linked Retinoschisis with Normal Scotopic b-Wave in the Electroretinogram at an Early Stage of the Disease

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

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