The Prevalence of Macular Cysts in Patients with Clinical Cone-Rod Dystrophy Determined by Spectral-Domain Optical Coherence Tomography

Salvatore, Serena; Genead, Mohamed A.; Fishman, Gerald A.

doi:10.3109/13816810.2013.804095

Cited by 7 publications

(4 citation statements)

References 26 publications

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“…(Figure 2b) This feature was previously described in COD/CORDs, congenital achromatopsia, and blue cone monochromacy [22]. It would be explained by the lack of cone outer segments with intact ELM [19,23]. According to Leng et al, foveal cavitation is a characteristic feature of cone dysfunction syndromes, without being specific to one disorder [24].…”

Section: Discussionmentioning

confidence: 74%

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

Boulanger-Scemama

Mohand‐Saïd

Shamieh

et al. 2019

IJMS

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Phenotypes observed in a large cohort of patients with cone and cone-rod dystrophies (COD/CORDs) are described based on multimodal retinal imaging features in order to help in analyzing massive next-generation sequencing data. Structural abnormalities of 58 subjects with molecular diagnosis of COD/CORDs were analyzed through specific retinal imaging including spectral-domain optical coherence tomography (SD-OCT) and fundus autofluorescence (BAF/IRAF). Findings were analyzed with the underlying genetic defects. A ring of increased autofluorescence was mainly observed in patients with CRX and GUCY2D mutations (33% and 22% of cases respectively). “Speckled” autofluorescence was observed with mutations in three different genes (ABCA4 64%; C2Orf71 and PRPH2, 18% each). Peripapillary sparing was only found in association with mutations in ABCA4, although only present in 40% of such genotypes. Regarding SD-OCT, specific outer retinal abnormalities were more commonly observed in particular genotypes: focal retrofoveal interruption and GUCY2D mutations (50%), foveal sparing and CRX mutations (50%), and outer retinal atrophy associated with hyperreflective dots and ABCA4 mutations (69%). This study outlines the phenotypic heterogeneity of COD/CORDs hampering statistical correlations. A larger study correlating retinal imaging with genetic results is necessary to identify specific clinical features that may help in selecting pathogenic variants generated by high-throughput sequencing.

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Section: Discussionmentioning

confidence: 74%

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

Boulanger-Scemama

Mohand‐Saïd

Shamieh

et al. 2019

IJMS

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“…[ 3 ] However, a large retrospective review of 36 CORD patients did not reveal the presence of MC, which included three patients with possible, likely or definite disease-causing sequence variations in ABCA4 gene. [ 4 ]…”

Section: Discussionmentioning

confidence: 99%

“…[ 1 2 ] Macular cyst (MC) occurs very infrequently in the pediatric age group and has rarely been described in CORD. [ 3 4 5 ] We report a case of young-onset CORD secondary to an isolated ABCA4 mutation, which presented with MC in the early stages of disease. Through serial spectral-domain optical coherence tomography (SD-OCT), we were able to diagnose and monitor changes of MC and conclude that its discovery predicated later visual drop.…”

Section: Introductionmentioning

confidence: 99%

Childhood cone–rod dystrophy with macular cyst formation in ABCA4 mutation identified by serial spectral-domain optical coherence tomography

Leung¹,

Ko²

2021

Taiwan J Ophthalmol

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Cone–rod dystrophy (CORD) is a type of progressive hereditary retinal dystrophies that causes cone predominant photoreceptor degeneration characterized by wide genotypic and phenotypic heterogeneity. Macular cyst (MC) occurs very infrequently in the pediatric age group and has rarely been described in CORD. We report a case of young-onset CORD that was affected by an isolated ABCA4 mutation complicated by the development of MC. Through serial spectral-domain ocular coherence tomography MC has been observed to persist for 24 months before its resolution, followed by retinal thinning and macular atrophy with corresponding visual acuity decline. The formation of MC and visual acuity appeared to be directly correlated in ABCA4 -related CORD and its manifestation is invaluable in predicting eventual visual loss. We further speculate that dysfunctional outer blood–retinal barrier may play a role in the pathophysiology of MC development in CORD.

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“…11 By contrast, CMO appears to be relatively rare in CORD. [12][13][14] The reason for this disparity is unknown. In our case, rods were significantly affected in addition to cones, therefore perhaps rod dysfunction is required for CMO in retinal dystrophy.…”

mentioning

confidence: 99%

Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7

Warwick

Shawkat

Lotery

2016

Ophthalmic Genetics

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The Prevalence of Macular Cysts in Patients with Clinical Cone-Rod Dystrophy Determined by Spectral-Domain Optical Coherence Tomography

Abstract: Although macular cysts are a common feature of various hereditary night-blinding retinal dystrophies, these were not identified in our cohort of CORD patients.

Cited by 7 publications

References 26 publications

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

Childhood cone–rod dystrophy with macular cyst formation in ABCA4 mutation identified by serial spectral-domain optical coherence tomography

Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7

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