Infantile presentation of X linked retinoschisis.

George, Nicholas B; Bradshaw, Keith; Moore, Anthony T.

doi:10.1136/bjo.79.7.653

Cited by 92 publications

(71 citation statements)

References 25 publications

(7 reference statements)

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“…However, there may still be longer-term benefit in restoring anatomical integrity, to preserve retinal architecture, reduce permanent damage, and limit progressive atrophy. 27 This, together with the lack of alternative options, was the rationale for continuing treatment with topical dorzolamide throughout the follow-up period, despite no obvious clinical benefit in VA.…”

Section: Discussionmentioning

confidence: 99%

X-linked retinoschisis maculopathy treated with topical dorzolamide, and relationship to genotype

Khandhadia

Trump

Menon

et al. 2011

Eye

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Purpose To correlate the response of topical dorzolamide (Trusopt; Merck) in patients with X-linked retinoschisis (XLRS) with genotype. Methods We carried out a retrospective evaluation of four patients (seven eyes) with XLRS, treated with topical dorzolamide. The change in best-corrected visual acuity (VA) and central macular thickness (CMT; central 1 mm subfield thickness) from optical coherence tomography (OCT) was analysed over the follow-up period, using Student's t-test. Each patient also had genetic analysis for mutations in the retinoschisis gene (RS1). Results The mean age at the start of treatment was 14.7 ± 11 years, and mean follow-up duration was 21.7±7.7 months. Mean CMT at the final follow-up was significantly better than at baseline (291±123 vs 352±119 lm, P ¼ 0.007); however, mean VA was worse (0.38 ± 0.25 vs 0.31 ± 0.24 logMAR score, P ¼ 0.041). All four patients had a mutation in the RS1 gene; there was no apparent association between the type of mutation and the response to topical dorzolamide. Conclusion Topical dorzolamide may have some effect in reducing central macular thickness in patients with XLRS, but this does not necessarily correlate with improvement in VA. In our case series, genotypic information did not predict the response to this treatment.

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Section: Discussionmentioning

confidence: 99%

X-linked retinoschisis maculopathy treated with topical dorzolamide, and relationship to genotype

Khandhadia

Trump

Menon

et al. 2011

Eye

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“…23 Patients often present at school age with poor vision and reading difficulties, although this can vary with patients presenting as young as 3 months. 26 The age of onset follows a bimodal distribution with patients presenting in infancy with squint and nystagmus and those with only poor vision presenting at school age. 26 Visual impairment is variable with best-corrected visual acuity from 20/20 to 20/ 600 17 27 and marked differences are found at all ages even within a family or in patients with the same mutation.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…26 The age of onset follows a bimodal distribution with patients presenting in infancy with squint and nystagmus and those with only poor vision presenting at school age. 26 Visual impairment is variable with best-corrected visual acuity from 20/20 to 20/ 600 17 27 and marked differences are found at all ages even within a family or in patients with the same mutation. 23 Foveal schisis (retinal splitting), seen as a cartwheel pattern of folds radiating out from the fovea (fig 1), is the characteristic sign of XLRS and is present in 98-100% of cases.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…27 Peripheral retinoschisis is often noted in the inferotemporal region. During infancy, these cavities may be very large bullous retinoschisis, 26 and this generally regresses leaving lines of pigment in older patients. 26 27 More than half the patients have some peripheral retinoschisis, 27 which can vary from shallow schisis to marked elevation in the inner leaflet over a large retinal area.…”

Section: Clinical Featuresmentioning

confidence: 99%

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X-linked retinoschisis: an update

Sikkink

Biswas

Parry

et al. 2007

Journal of Medical Genetics

147

131

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“…XLRS is a form of juvenile macular and retinal degeneration in which schisis or splitting within the retinal layers leads to early and progressive vision loss. XLRS is a rare disease estimated to affect 1:5000 males (George et al, 1995;Wang et al, 2002) and is a disease with considerable clinical and electrophysiological variation. Precise analysis of XLRS is pertinent to identify disease severity and genotype-phenotype correlation.…”

Section: Introductionmentioning

confidence: 99%

Molecular Modeling of Protein Structure, Biology of Disease and Clinical Electroretinography in Human X-Linked Retinoschisis (XLRS)

Sergeev¹,

Bowles²,

Ziccardi³

et al. 2011

Electroretinograms

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A number of mutations in RS1 co-segregate with XLRS providing strong evidence that the disease is caused by mutations in the RS1 gene (Sauer et al., 1997). Although inherited mutations in the RS1 gene have been shown to cause an XLRS phenotype, the functional impact of most missense variants that result in a single amino acid change is less well defined. RS1 is a 24-kDa secreted protein which is expressed exclusively in the retina (Reid et al., 1999), pineal gland (Takada et al., 2006, and uterus (Huopaniemi et al., 1999). In retinal layers it is found in photoreceptor cells and in neurons of the inner retina (Figure 1). It encodes a conserved discoidin domain homologous to proteins involved in cell adhesion and cell-cell interactions. Based on its structural features, RS1 is believed to hold retinal cells together, to preserve the retinal architecture, and to function as an adhesive protein for the structural and functional integrity of the retina Vijayasarathy et al., 2007). It may mediate the association of the extracellular matrix with the surface of photoreceptors and other retinal cells to promote cell adhesion and thereby stabilize the cellular architecture of the highly structured retinal tissues. There exist three primary mechanisms that may be responsible for the loss of function of the RS1 protein: the misfolding of the discoidin domain, which negatively influences the putative adhesive properties of the protein; the defective disulfide-linked subunit assembly of RS1 into dimers and octamers; or the inability of RS1 to insert into endoplasmic reticulum membrane as part of the protein secretion process. Retinal morphology in retinoschisis: photoreceptors disruption and altered photoreceptor/bipolar cells synapse in the RS1-KO mouseCurrently, there are three mouse models of human XLRS. One has been generated by homologus DNA insertion across the endogenous RS1 gene (Weber et al., 2002), presenting a phenotype consisting of abnormal retinal architecture with schisis in the inner nuclear layer, reduced outer segment layer thickness, loss of photoreceptors, and a selective ERG bwave reduction with relative sparing of the a-wave similar to XLRS male subjects. A second RS1 knock-out mouse model (Zeng et al., 2004) was created by substituting a neomycin resistance cassette for exon 1 and 1.6 kb in intron 1 of RS1h, the murine orthologue of the human RS1 gene. This model also displayed structural and functional features similar to those of human XLRS, including the electronegative ERG waveform and splitting in the inner nuclear layer similar to retinoschisis cavities by 6 months of age. They also demonstrated displacement of cells from the photoreceptor outer nuclear layer (ONL) and reduced thickness of the outer segment layer (Zeng et al., 2004). More recently, a third mouse model was generated using an ENU mutagenesis approach (Jablonski et al., 2005) derived from an induced mutation in intron 2 of RS1h, which leads to two novel splice variants. It is remarkable that, similar to the human condition, male ho...

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Infantile presentation of X linked retinoschisis.

Cited by 92 publications

References 25 publications

X-linked retinoschisis maculopathy treated with topical dorzolamide, and relationship to genotype

X-linked retinoschisis maculopathy treated with topical dorzolamide, and relationship to genotype

X-linked retinoschisis: an update

Molecular Modeling of Protein Structure, Biology of Disease and Clinical Electroretinography in Human X-Linked Retinoschisis (XLRS)

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