![]() ![]() 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. Progressive phenotype was seen with variants in CNGB3 and PDE6C. Progressive deterioration of BCVA only attributable to achromatopsia was found in three of 58 patients. 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. 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. If not already available, genetic analysis was offered to the patient. Patients were identified from the Danish national registries. The retrospective design allowed for the study of a large cohort with a long follow-up. This natural history study aimed to further explore the course of disease and potential clinical differences between various genotypes. ![]() 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. Achromatopsia is a rare congenital condition with cone photoreceptor dysfunction causing color blindness, reduced vision, nystagmus and photophobia. ![]()
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