Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance

Vaclavik, Véronika; Chakarova, Christina; Bhattacharya, S S; Robson, Anthony G.; Holder, GE; Bird, AC; Webster, AR

doi:10.1136/bjo.2007.120055

Cited by 13 publications

(7 citation statements)

References 11 publications

(11 reference statements)

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“…This finding was similar to previous studies that showed similar hyperautofluorescence in the central macula and mid-peripheral retina in patients with Enhanced S-cone syndrome [20, 26]. …”

Section: Discussionsupporting

confidence: 93%

Efficacy of topical dorzolamide for treatment of cystic macular lesions in a patient with enhanced S-cone syndrome

2010

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The purpose of this study was to evaluate the efficacy of topical dorzolamide 2% eye drops on macular function and thickness in a case of enhanced S-cone syndrome (ESCS). A 24-year-old Asian man with enhanced S-cone syndrome treated with topical dorzolamide in the left eye participated in the study. Examinations performed before and during treatment included: visual acuity (VA), contrast sensitivity measured with briefly presented grating targets (grating CS) and the Pelli-Robson chart (P-R CS), microperimetry (MP), and spectral-domain optical coherence tomography (SD-OCT). Following four months of treatment, the mean thickness of the central 1-mm foveal subfield of the left eye, as measured by SD-OCT, decreased from 551 μm to 242 μm. Mean MP sensitivity within the central 12 degrees (28 points) increased from 9.4 dB at baseline to 11.2 dB. Although, Pelli-Robson contrast sensivity improved only minimally in the left eye, grating contrast sensivity improved by more than a factor of two. Mean log MAR VA was 0.22 OD and 1.00 OS (at baseline), which improved to 0.10 OD and 0.66 OS after four months of treatment. The results indicate that in our patient with enhanced S-cone syndrome, treatment with topical dorzolamide was effective in improving macular thickness, VA, microperimetry sensitivity, and grating contrast sensivity. These measures of retinal structure and function are sensitive tools for evaluating the effects of treatment in enhanced S-cone syndrome patients with cystoid macular edema. Further investigation is warranted to assess the relationships among visual performance for daily activities, visual sensitivity, and macular thickness.

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“…This finding was similar to previous studies that showed similar hyperautofluorescence in the central macula and mid-peripheral retina in patients with Enhanced S-cone syndrome [20, 26]. …”

Section: Discussionsupporting

confidence: 93%

Efficacy of topical dorzolamide for treatment of cystic macular lesions in a patient with enhanced S-cone syndrome

2010

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“…This phenomenon suggested why there were few reports describing similar fundus white dots from the ESCS patients. Although a normal fundus appearance without subretinal white dots has been reported in some case series with 6–10-year-old patients,12 21 those patients are homozygous for a missense mutation (R104W) that is different from the R311Q mutation seen in our case series. The R311Q substitution, the most common ESCS allele, is found in ∼45% of patients 3.…”

Section: Discussioncontrasting

confidence: 62%

“…Foveal schisis has been reported in patients with ESCS 3 12 21. In case 1, there is no foveal schisis in the left eye, but there are intraretinal cysts around the lesion in the macula of the right eye (fig 3B).…”

Section: Discussionmentioning

confidence: 90%

Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene

Wang

Fine²,

Chang³

et al. 2009

British Journal of Ophthalmology

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Aim-To characterize new clinical features in a family with enhanced S-cone syndrome (ESCS) and investigate the pathogenesis of these clinical features in the homozygous Nr2e3 rd7rd7 (rd7) mutant mice.Methods-Four patients from an affected family were included for genotypic and phenotypic study. Eye tissues from rd7 mice were used to detect a possible relationship between macrophages and autofluorescent material by immunohistochemistry (IHC) staining.Results-Homozygous mutation in R311Q in NR2E3 was detected in this family. Color photographs revealed that white dots do not correlate to hyperautofluorescent spots seen in autofluorescence imaging of the macula. OCT showed rosette-like lesions similar to those found in rd7 mice histology sections. From IHC analysis, we observed that F4/80 (a pan macrophage marker), and autofluorescence were co-localized to the same cells within the retina rosettes.Conclusions-Retinal structure of a young ESCS patient with homozygous R311Q mutation in the NR2E3 gene is similar to that seen in the rd7 mice. The macrophages were found to contain autofluorescent materials in the retinal rosettes of rd7 mice. Our data are consistent with macrophage infiltration contributing to the hyper-autofluorescent spots found in our patients.

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“…Histological analysis of a postmortem retina from a 77-year-old ESCS patient later confirmed an absence of rods and an increase by approximately two-fold of the number of cones, 92% of which were S-cones [Milam et al, 2002]. Additional clinical findings with an important variability and onset between patients, even inside a same family, including: cystoid maculopathy; retinal degeneration in the region of the vascular arcades, ranging from yellow flecks to clumped or nummular pigment deposition; relative ring scotomas; macular retinoschisis; disorganized retinal lamination; rosette formation in the outer nuclear layer; subfoveal neovascularization; and reduced visual acuity; posterior subcapsular cataracts [Audo et al, 2008;Cideciyan et al, 2003;Greenstein et al, 1996;Jacobson et al, 1990Jacobson et al, , 2004Jurklies et al, 2001;Marmor et al, 1990;Nakamura et al, 2004;Pachydaki et al, 2009;Vaclavik et al, 2008;Yamamoto et al, 1999]. The Goldmann-Favre syndrome (GFS; MIM] 268100) shared several clinical features with ESCS.…”

Section: Introductionmentioning

confidence: 99%

NR2E3mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP)

Schorderet

Escher

2009

Hum. Mutat.

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NR2E3, also called photoreceptor-specific nuclear receptor (PNR), is a transcription factor of the nuclear hormone receptor superfamily whose expression is uniquely restricted to photoreceptors. There, its physiological activity is essential for proper rod and cone photoreceptor development and maintenance. Thirtytwo different mutations in NR2E3 have been identified in either homozygous or compound heterozygous state in the recessively inherited enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), and clumped pigmentary retinal degeneration (CPRD). The clinical phenotype common to all these patients is night blindness, rudimental or absent rod function, and hyperfunction of the ''blue'' S-cones. A single p.G56R mutation is inherited in a dominant manner and causes retinitis pigmentosa (RP). We have established a new locus-specific database for NR2E3 (www.LOVD.nl/eye), containing all reported mutations, polymorphisms, and unclassified sequence variants, including novel ones. A high proportion of mutations are located in the evolutionarily-conserved DNA-binding domains (DBDs) and ligand-binding domains (LBDs) of NR2E3. Based on homology modeling of these NR2E3 domains, we propose a structural localization of mutated residues. The high variability of clinical phenotypes observed in patients affected by NR2E3-linked retinal degenerations may be caused by different disease mechanisms, including absence of DNA-binding, altered interactions with transcriptional coregulators, and differential activity of modifier genes.

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Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance

Cited by 13 publications

References 11 publications

Efficacy of topical dorzolamide for treatment of cystic macular lesions in a patient with enhanced S-cone syndrome

Efficacy of topical dorzolamide for treatment of cystic macular lesions in a patient with enhanced S-cone syndrome

Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene

NR2E3mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP)

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