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The central retinal thickness and its related genotype in ABCA4-related retinopathy.

Eye 2024 May 14
PURPOSE: To further explore the influence of genotype, including mutation type and structural domain, on the severity of macular atrophy, we measured the central retinal thickness (CRT) in patients with ABCA4-related retinopathy.

METHODS: A total of 66 patients were included in the cohort. This was a retrospective investigation. The patients were tested using whole exon sequencing and ophthalmic exams, including slip lamp exams, best-corrected visual acuity, optical coherence tomography, fundus photo, and fundus autofluorescence.

RESULTS: In this study, we discovered that mutations on nucleotide binding domains (NBD) lead to less CRT (45.00 ± 25.25μm, 95% CI: 31.54-58.46) had significantly less CRT than the others (89.75 ± 71.17μm, 95% CI: 30.25-149.25, p = 0.032), and could accelerate the rate of CRT decrease.

CONCLUSIONS: Our study provides new perspectives in the understanding of ABCA4-related retinopathy.

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