X-linked retinoschisis: an update

Sikkink, Stephen; Biswas, Susmito; Parry, Neil R. A.; Stanga, Paulo E; Trump, Dorothy

doi:10.1136/jmg.2006.047340

Cited by 151 publications

(144 citation statements)

References 80 publications

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“…76 The product of the RS1 gene, retinoschisin, is secreted from photoreceptors and bipolar cells, and appears to be required for cellular adhesion and structural stability of the retina. 10 Although it is usually produced in photoreceptor cells and bipolar cells, its extracellular function means that it may not be necessary to replicate this pattern of expression faithfully to achieve a successful rescue of the defect.…”

Section: Retinoschisismentioning

confidence: 99%

Gene supplementation therapy for recessive forms of inherited retinal dystrophies

Smith¹,

Bainbridge²,

Ali³

2011

Gene Ther

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Over the last decade, gene supplementation therapy for inherited retinal degeneration has come of age. Early proof-of-concept studies in animal models of disease showed modest, but genuine improvements in retinal function and/or survival. Further development of the vectors used for gene transfer to the retina has led to better treatment efficacy in a wide variety of animal models, leading in 2008 to the initiation of three clinical trials for Leber congenital amaurosis caused by retinal pigment epithelium 65 deficiency. The results from these trials suggest that the treatment of inherited retinal dystrophy by gene therapy can be safe and effective. Here, we examine the progress of gene supplementation therapy in the retina, and discuss the potential for using gene therapy to treat different forms of inherited retinal degeneration.

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Section: Retinoschisismentioning

confidence: 99%

Gene supplementation therapy for recessive forms of inherited retinal dystrophies

Smith¹,

Bainbridge²,

Ali³

2011

Gene Ther

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“…A deteriorização na acuidade é maior a partir dos 40 anos (tendendo a estabilidade enquanto estiverem presentes os cistos centrais), obviamente mais precoce naqueles com estrabismo, nistagmo e leucocoria. Costuma evoluir durante os primeiros 20 anos, após o que frequentemente estaciona, retomando a piora funcional nos idosos, mas convém considerá-la como uma doença pouco previsível (74)(75)(76)(77)(78) .…”

Section: Retinosquises Ligada Ao Xunclassified

“…A redução da acuidade desacompanhada de alteração biomicroscópica macular pode ser esclarecida pelo uso do OCT, CV ou do eletrorretinograma (ERG). Com o tempo modifica-se o padrão estriado, petalóide, tomando lugar um distúrbio pigmentar, cicatrizes, atrofia e perda do reflexo foveal (eventualmente gerando confusão diagnóstica com processos ligados à idade ou outras situações distróficas) (62,77,78) .…”

Section: Retinosquises Ligada Ao Xunclassified

“…São de extensões variáveis (equador ao disco), sendo peculiar na forma plana a preservação campimétrica. Regressões espontanêas são típicas (75)(76)(77)(78)(79)(80) .…”

Section: Retinosquises Ligada Ao Xunclassified

“…Sem contar que certos diagnósticos diferenciais, como a cegueira noturna estacionária congênita também exibe o padrão citado. Esta heterogenicidade a ERG confirma a ampla variabilidade intra e interfamiliares (72,78,87) .…”

Section: Retinosquises Ligada Ao Xunclassified

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Retinosquises

Vilela¹,

Colossi²

2011

Rev. bras.oftalmol.

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Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis—A new mental retardation syndrome?

Phadke

Sharda

Urquhart

et al. 2010

American J of Med Genetics Pt A

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Involvement of genes on the X-chromosome as a cause of mental retardation has been recognized for a long time. X-linked phenotypes of mental retardation have been divided into non-syndromic and syndromic based on associated manifestations. At present, more than 140 syndromic X-linked mental retardation (XLMR) conditions have been reported and a causative gene mutation has been identified in almost half of these. Here, we report on two brothers with short stature, microcephaly, severe mental retardation, and retinoschisis. Results of karyotype analysis, fragile-X and neuroimaging studies were normal. Fundus examination showed bilateral retinoschisis at variable stages in both sibs. X-linked retinoschisis is a retinal dystrophy caused by mutations in the RS1 gene at Xp22.1, which lead to splitting of the neural retina and reduced visual acuity in affected men. However, as yet there have been no reports of mental retardation in X-linked retinoschisis although genetic loci for XLMR and short stature have been mapped to Xp22.1. Sequencing and microarray analysis failed to find any alteration of RS1 gene or copy number alteration in the region. In addition, genotype analysis of Xp22.1 provided evidence against linkage to this region. The associated findings of retinoschisis and mental retardation in two brothers suggest a new mental retardation syndrome likely to be an X linked trait.

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X-linked retinoschisis: an update

Cited by 151 publications

References 80 publications

Gene supplementation therapy for recessive forms of inherited retinal dystrophies

Gene supplementation therapy for recessive forms of inherited retinal dystrophies

Retinosquises

Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis—A new mental retardation syndrome?

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