Abnormal Cone Structure in Foveal Schisis Cavities in X-Linked Retinoschisis from Mutations in Exon 6 of the<i>RS1</i>Gene

Duncan, Jacque L.; Ratnam, Kavitha; Birch, David G.; Sundquist, S.; Lucero, Anna S.; Zhang, Yuhua; Meltzer, Meira; Smaoui, Nizar; Roorda, Austin

doi:10.1167/iovs.11-8600

Cited by 39 publications

(31 citation statements)

References 84 publications

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“…Although previous studies 34,35,[41][42][43][44][45][46][47][48][49][50][51][52] have used AOSLO to assess cone spacing and density in normal and diseased eyes, none have reported on how foveal cone measures and visual function are correlated. The present study demonstrates a significant correlation between increased AOSLO cone spacing Z-scores and decreased VA at or near the fovea, as well as a significant correlation between Z-scores and foveal sensitivity.…”

Section: Discussionmentioning

confidence: 99%

“…34,35,[41][42][43][44][45][46][47][48][49][50][51][52] Adaptive optics-based studies 41,42 of retinal degeneration showed a significant correlation between macular cone spacing and central visual function, but given the small size and unique anatomy 53 of foveal cones and the resulting difficulties posed on imaging, 54 these studies were unable to assess cone morphology at the foveal center. Within the past few years, advanced systems that have implemented improvements in AO scanning laser ophthalmoscopy (AOSLO) system design 55 and advanced controls 56 have been able to more routinely visualize the foveal cone mosaic.…”

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confidence: 99%

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Relationship Between Foveal Cone Structure and Clinical Measures of Visual Function in Patients With Inherited Retinal Degenerations

Ratnam

Carroll

Porco

et al. 2013

Invest. Ophthalmol. Vis. Sci.

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Cone density was reduced by up to 62% below normal at or near the fovea in eyes with VA and sensitivity that remained within normal limits. Despite a significant correlation with foveal cone spacing, VA and sensitivity are insensitive indicators of the integrity of the foveal cone mosaic. Direct, objective measures of cone structure may be more sensitive indicators of disease severity than VA or foveal sensitivity in eyes with inherited retinal degenerations.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Relationship Between Foveal Cone Structure and Clinical Measures of Visual Function in Patients With Inherited Retinal Degenerations

Ratnam

Carroll

Porco

et al. 2013

Invest. Ophthalmol. Vis. Sci.

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“…These structures are also found in animals following ablation of Müller glial cells (Byrne et al, 2013), in association with defects in the outer limiting membrane (Stuck et al, 2012), in conditions where microRNA function is disrupted (Damiani et al, 2008) and when cell proliferation is abnormal (Lin et al, 2001). Gross perturbation to retinal organization is also evident in patients and animal models with retinoschisis, a condition that leads to a physical separation between cells at the level of the OPL, resulting from the loss of the protein retinoschisin (Duncan et al, 2011; Kjellstrom et al, 2007; Molday et al, 2012; Takada et al, 2008). …”

Section: Disease: Alterations To Structure and Functionmentioning

confidence: 99%

Functional architecture of the retina: Development and disease

Hoon

Okawa

Santina

et al. 2014

Progress in Retinal and Eye Research

457

385

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Structure and function are highly correlated in the vertebrate retina, a sensory tissue that is organized into cell layers with microcircuits working in parallel and together to encode visual information. All vertebrate retinas share a fundamental plan, comprising five major neuronal cell classes with cell body distributions and connectivity arranged in stereotypic patterns. Conserved features in retinal design have enabled detailed analysis and comparisons of structure, connectivity and function across species. Each species, however, can adopt structural and/or functional retinal specializations, implementing variations to the basic design in order to satisfy unique requirements in visual function. Recent advances in molecular tools, imaging and electrophysiological approaches have greatly facilitated identification of the cellular and molecular mechanisms that establish the fundamental organization of the retina and the specializations of its microcircuits during development. Here, we review advances in our understanding of how these mechanisms act to shape structure and function at the single cell level, to coordinate the assembly of cell populations, and to define their specific circuitry. We also highlight how structure is rearranged and function is disrupted in disease, and discuss current approaches to re-establish the intricate functional architecture of the retina.

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“…Using AOSLO, Duncan et al reported increased cone spacing and abnormal packing in the macula of XLRS patients [22]. Baseline images taken prior to treatment also exhibited qualitative abnormalities – dark spacing and mottling of the mosaic – when compared to a similar area in an unaffected control (Figure 5).…”

Section: Discussionmentioning

confidence: 99%

Rapid resolution of retinoschisis with acetazolamide

et al. 2015

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Purpose To report the results of an azetazolamide (Diamox®) treatment regimen in a genetically confirmed case of X-linked Juvenile Retinoschisis (XLRS). Methods A patient with XLRS was prescribed azetazolamide (Diamox®) at a dose of 500 mg/day, then discontinued the treatment due to non-compliance for 4 days, and finally resumed the course of treatment. Best-corrected visual acuity, retinal structure, and function were monitored with autofluorescence (AF), spectral domain-optical coherence tomography (SD-OCT), adaptive optics scanning laser ophthalmoloscopy (AOSLO), and full-field electroretinogram (ERG). Full-field ERG was performed using DTL recording electrodes and Ganzfeld stimulation according to ISCEV standards. Results Serial monitoring of the cysts by SD-OCT revealed a strong association between the effects of acetazolamide administration and the size of the schisis. A reduction in foveal cyst size was significant in as rapid as 6 days after acetazolamide initiation. AOSLO data revealed that the resolution of cone cell images improves as the foveal schisis decreases in size. Conclusions Efficacy of acetazolamide in patients with XLRS can be apparent in as rapid as a week of therapy. AOSLO can be a good method to evaluate the cone cells after acetazolamide treatment in the early stages of XLRS.

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Abnormal Cone Structure in Foveal Schisis Cavities in X-Linked Retinoschisis from Mutations in Exon 6 of theRS1Gene

Cited by 39 publications

References 84 publications

Relationship Between Foveal Cone Structure and Clinical Measures of Visual Function in Patients With Inherited Retinal Degenerations

Relationship Between Foveal Cone Structure and Clinical Measures of Visual Function in Patients With Inherited Retinal Degenerations

Functional architecture of the retina: Development and disease

Rapid resolution of retinoschisis with acetazolamide

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