Una nueva mutación en el gen CNGA3 causante de acromatopsia incompleta

Burgueño-Montañés, C.; Cueva, M. Colunga; Alvarez, Celeste

doi:10.1016/j.oftal.2012.07.019

Cited by 4 publications

(1 citation statement)

References 5 publications

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“…Variants in CNGA3 were the second most frequent cause of ACHM in our cohort and were most predominantly missense variants resulting from single base pair substitutions, and have all been previously published [ 13 , 24 , 38 , 39 , 40 , 41 , 42 ].…”

Section: Resultsmentioning

confidence: 72%

Genetic and Clinical Characterization of Danish Achromatopsia Patients

Andersen

Bertelsen

Grønskov

et al. 2023

Genes

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Achromatopsia is a rare congenital condition with cone photoreceptor dysfunction causing color blindness, reduced vision, nystagmus and photophobia. New treatments are being developed, but the current evidence is still conflicting regarding possible progression over time, and there is no clear genotype-phenotype correlation. This natural history study aimed to further explore the course of disease and potential clinical differences between various genotypes. The retrospective design allowed for the study of a large cohort with a long follow-up. Patients were identified from the Danish national registries. If not already available, genetic analysis was offered to the patient. Clinical data from 1945–2022 were retrieved from medical records and included best-corrected visual acuity (BCVA), color vision, refractive error, nystagmus, visual fields and fundoscopic findings. We identified variants believed to be disease causing in five of the known achromatopsia genes: CNGA3; CNGB3; GNAT2; PDE6C and PDE6H; and novel variants were identified in CNGB3 and PDE6C. Progressive deterioration of BCVA only attributable to achromatopsia was found in three of 58 patients. Progressive phenotype was seen with variants in CNGB3 and PDE6C. The results indicate that myopia could be more frequently occurring with variants in GNAT2, PDE6C and PDE6H and support the evidence that achromatopsia is a predominantly stationary condition with respect to BCVA. Although a clear genotype-phenotype correlation can still not be concluded, there may be differences in phenotypical characteristics with variants in different genes.

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Section: Resultsmentioning

confidence: 72%

Genetic and Clinical Characterization of Danish Achromatopsia Patients

Andersen

Bertelsen

Grønskov

et al. 2023

Genes

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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

et al. 2022

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Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia

Matet

Kohl

Baumann

et al. 2018

Sci Rep

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Multimodal imaging provides insights into phenotype and disease progression in inherited retinal disorders. Congenital achromatopsia (ACHM), a cone dysfunction syndrome, has been long considered a stable condition, but recent evidence suggests structural progression. With gene replacement strategies under development for ACHM, there is a critical need for imaging biomarkers to define progression patterns and follow therapy. Using semiquantitative plots, near-infrared (NIR-AF) and short-wavelength autofluorescence (SW-AF) were explored and correlated with clinical characteristics and retinal structure on optical coherence tomography (OCT). In sixteen ACHM patients with genetic confirmation (CNGA3, n = 8; CNGB3, n = 7; PDE6C, n = 1), semiquantitative plots allowed the detailed analysis of autofluorescence patterns, even in poorly fixating eyes. Twelve eyes showed perifoveal hyperautofluorescent rings on SW-AF, and 7 eyes had central hypoautofluorescent areas on NIR-AF, without association between these alterations (P = 0.57). Patients with central NIR-AF hypoautofluorescence were older (P = 0.004) and showed more advanced retinal alterations on OCT than those with normal NIR-AF (P = 0.051). NIR-AF hypoautofluorescence diameter was correlated to patient age (r = 0.63, P = 0.009), size of ellipsoid zone defect on OCT (r = 0.67, P = 0.005), but not to the size of SW-AF hyperautofluorescence (P = 0.27). These results demonstrate the interest of NIR-AF as imaging biomarker in ACHM, suggesting a relationship with age and disease progression.

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Una nueva mutación en el gen CNGA3 causante de acromatopsia incompleta

Cited by 4 publications

References 5 publications

Genetic and Clinical Characterization of Danish Achromatopsia Patients

Genetic and Clinical Characterization of Danish Achromatopsia Patients

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia

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