Gucy2d- Or Guca1a-Related Autosomal Dominant Cone–rod Dystrophy

Zobor, Ditta; Zrenner, Eberhart; Wissinger, Bernd; Kohl, Susanne; Jägle, Herbert

doi:10.1097/iae.0000000000000129

Cited by 17 publications

(13 citation statements)

References 32 publications

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“…3). 13,19 Briefly, the onset of disease occurred between childhood and early adulthood, with a progressive nature. Visual acuity was reduced in all patients.…”

Section: Dominant Familiesmentioning

confidence: 99%

Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone-Rod Dystrophy in Israel

Lazar¹,

Mutsuddi²,

Kimchi³

et al. 2014

Investigative Ophthalmology & Visual Science

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Our study suggested that GUCY2D is a major cause of autosomal dominant cone and cone-rod dystrophies in Israel; this is similar to other Caucasian populations and is in contrast with retinitis pigmentosa (primary rod disease), where the genetic make-up of the Israeli population is distinct from other ethnic groups. We also conclude that WES permits more comprehensive and rapid analyses that can be followed by targeted screens of larger samples to delineate the genetic structure of retinal disease in unique population cohorts.

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“…3). 13,19 Briefly, the onset of disease occurred between childhood and early adulthood, with a progressive nature. Visual acuity was reduced in all patients.…”

Section: Dominant Familiesmentioning

confidence: 99%

Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone-Rod Dystrophy in Israel

Lazar¹,

Mutsuddi²,

Kimchi³

et al. 2014

Investigative Ophthalmology & Visual Science

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“…A phenotype very similar to the small hypo-AF dots seen in this study can be found in at least some cases of CDHR1 retinal dystrophy as well 23,26. Review of published cases in which autofluorescence (primarily SW-AF) was performed in other genetic forms of CRD (neither PROM1 nor CDHR1 ) showed that, with this imaging modality, a substantial majority did not resemble the cases presented here 12,26–33. However, isolated cases of CRD associated with C8orf37 , CERKL , GUCA1A , and RDS mutations did show moderate resemblances to the AF images presented here 34–37…”

Section: Discussionmentioning

confidence: 63%

Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy

Collison¹,

Fishman

Nagasaki

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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Purpose To define characteristic ocular features in a group of patients with autosomal recessive (AR) PROM1 cone-rod dystrophy (CRD). Methods Three males and one female from three unrelated families were first seen at the ages of 15 to 22 years and diagnosed with CRD. Clinical testing available for review included full-field electroretinogram (ERG) in three patients, as well as near-infrared autofluorescence (NIR-AF), spectral-domain optical coherence tomography (SD-OCT), and color fundus photography in all four patients. Whole exome sequencing (WES) was performed on all cases, and whole genome sequencing (WGS) was performed in two families. Results WES found compound heterozygous PROM1 variants in one isolated male, plus heterozygous variants in the remaining patients. WGS uncovered deleterious PROM1 variants in these two families. ERG showed markedly reduced cone-isolated amplitudes and variably reduced rod-isolated amplitudes. The dark-adapted combined rod and cone responses demonstrated notably reduced a-wave amplitudes and moderately reduced b-waves, and the resultant waveform resembled the normal rod-isolated response. On fundus examination, oval-shaped macular lesions were observed, as were several small, circular hypoautofluorescent lesions within the posterior pole on NIR-AF. Three patients showed extramacular circular atrophic lesions. Conclusions The autofluorescence changes, peripheral retinal abnormalities, and ERG findings have not been emphasized in previous reports of AR PROM1 , but they became a recognizable phenotype in this cohort of patients. A similar constellation of findings may be observed in CRD due to CDHR1, a functionally related gene. The pattern of abnormalities reported herein may help to focus genetic screening in patients with these findings.

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“… 7 The clinical picture of GUCY2D mutations includes cone-predominant retinal dystrophy with glare, color vision, dark adaptation deficits, and neuroepithelial atrophy. 8 Phenotypic characterization in our proband included disturbance of the retinal pigment epithelium, mild enophthalmos, and temporal optic disc pallor.…”

Section: Discussionmentioning

confidence: 97%

Novel mutations in two Saudi patients with congenital retinal dystrophy

Safieh

AlOtaibi

Lewis

et al. 2016

Middle East Afr J Ophthalmol

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To report novel mutations in two Saudi children with clinical features of Leber congenital amaurosis (LCA) and Alström syndrome. Case reports. Case 1 was a child with phenotypic features of LCA including oculodigital sign, bilateral enophthalmos, nystagmus, pale disc, and retinal changes. Direct sequencing of the coding sequence of GUCY2D revealed a missense mutation affecting highly conserved position (c. 743C > T; p.S248 L). Case 2 describes a girl with marked nystagmus, photophobia, and retinal changes in both eyes with short and stubby fingers tapering at the distal phalanges. The electroretinograms were nonrecordable in each eye. She had a hearing aid in the left ear, mid-facial hypoplasia, bilateral enophthalmos, and insulin dependent diabetes. Mutation screening of candidates genes revealed a pathogenic mutation in ALMS1 gene (c. 8441C > A, p.S2814*). Two novel mutations causing phenotypic LCA and Alström syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies

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Gucy2d- Or Guca1a-Related Autosomal Dominant Cone–rod Dystrophy

Abstract: GUCA1A and GUCY2D mutations are both accompanied by similar pattern of generalized cone dysfunction with a tendency to less involvement of the rod photoreceptors and a less severe phenotype in patients with GUCA1A.

Cited by 17 publications

References 32 publications

Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone-Rod Dystrophy in Israel

Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone-Rod Dystrophy in Israel

Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy

Novel mutations in two Saudi patients with congenital retinal dystrophy

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