An unusual fundus phenotype of inner retinal sheen in X-linked retinoschisis

Robson, Anthony G.; Mengher, L S; Tan, Mei Hong; Moore, Anthony T.

doi:10.1038/eye.2008.358

Cited by 9 publications

(6 citation statements)

References 8 publications

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“…In the present study of young patients, OCT demonstrated a variety of cystic formations and degeneration. Recent reports have confirmed phenotypic variations in the fundus appearance as well, in some case without any typical schisis cavities in young patients 28,29. The present study showed that the progress of degeneration in these structures also is extremely slow.…”

Section: Discussionsupporting

confidence: 87%

“…Since the RS-gene was identified as the disease causing gene, other phenotypes with atypical ERG findings have also been recognized during recent years,14, 27–29 confirming the variety of phenotypes in XLRS patients. In the present study on patients of similar age, the ERG results confirm this phenotypic variation and showed it remained stable during the 12 year follow-up time period.…”

Section: Discussionmentioning

confidence: 84%

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Long-term 12 year follow-up of X-linked congenital retinoschisis

Kjellström

Vijayasarathy

Ponjavic

et al. 2010

Ophthalmic Genetics

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Purpose-To investigate the retinal structure and function during the progression of X-linked retinoschisis (XLRS) from childhood to adulthood.Methods-Ten patients clinically diagnosed with XLRS were investigated at 6-15 years of age (mean age 9 years) with a follow-up 8 to 14 years later (mean 12 years). The patients underwent regular ophthalmic examination as well as testing of best corrected visual acuity (BCVA), visual field (VF) and assessment of full-field electroretinography (ERG) during their first visit. During the follow-up, the same clinical protocols were repeated. In addition, macular structure and function was examined with multifocal electroretinography (mfERG) and optical coherence tomography (OCT). The patients were 18-25 years of age (mean age 21 years) at the follow-up examination. All exons and exon-intron boundaries of RS1-gene were sequenced for gene mutations in 9 out of the 10 patients.Results-Best corrected VA and VF were stable during this follow-up period. No significant progression in cone or rod function could be measured by full-field ERG. Multifocal electroretinography and OCT demonstrated a wide heterogeneity of macular changes in retinal structure and function at the time of follow-up visit. Three different mutations were detected in these nine patients, including a known nonsense mutation in exon 3, a novel insertion in exon 5 and an intronic mutation at 5' splice site of intron 3.Conclusions-Clinical follow-up (mean 12 years) of ten young XLRS patients (mean age of 9 years) with a typical congenital retinoschisis phenotype revealed no significant decline in retinal function during this time period. MfERG and OCT demonstrated a wide variety of macular changes including structure and dysfunction. The XLRS disease was relatively stable during this period of observation and would afford opportunity for therapy studies to judge benefit against baseline and against the fellow eye.

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Section: Discussionsupporting

confidence: 87%

Section: Discussionmentioning

confidence: 84%

Long-term 12 year follow-up of X-linked congenital retinoschisis

Kjellström

Vijayasarathy

Ponjavic

et al. 2010

Ophthalmic Genetics

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“…Further studies are needed to better understand how a defect in rhodopsin deactivation leads to the Mizuo-Nakamura phenomenon. Of note, a similar fundus appearance has been reported in rare cases of X-linked retinoschisis and X-linked cone dystrophy (de Jong et al, 1991;Heckenlively and Weleber, 1986;Robson et al, 2009), although these disorders are associated with different ERG phenotypes.…”

Section: Oguchi Diseasementioning

confidence: 76%

Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

Zeitz

Robson

Audo

2015

Progress in Retinal and Eye Research

308

382

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“…The tapetal-like reflex of the Mizuo-Nakamura phenomenon has been reported in other diseases, such as X-linked cone-rod dystrophy, 19 X-linked retinoschisis, 10,20 and also in carriers of X-linked RP. 21 The underlying mechanism for this reflex has not been clearly determined by our case series, and the discussion we have made regarding possible mechanisms is very speculative.…”

Section: Discussionmentioning

confidence: 76%

Association of Retinal Artery and Other Inner Retinal Structures With Distribution of Tapetal-like Reflex in Oguchi's Disease

Kato

Tsunoda

Fujinami

et al. 2015

Invest. Ophthalmol. Vis. Sci.

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Although the alterations of the outer retinal layers are believed to be most responsible for the abnormal tapetal-like reflex in patients with Oguchi's disease, these ophthalmoscopic features cannot be explained solely by the abnormality of the outer retina. Our findings suggest that the appearance of tapetal-like reflex is strongly affected by alterations of structures in the inner retinal layers.

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An unusual fundus phenotype of inner retinal sheen in X-linked retinoschisis

Cited by 9 publications

References 8 publications

Long-term 12 year follow-up of X-linked congenital retinoschisis

Long-term 12 year follow-up of X-linked congenital retinoschisis

Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

Association of Retinal Artery and Other Inner Retinal Structures With Distribution of Tapetal-like Reflex in Oguchi's Disease

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