The central retinal thickness and its related genotype in ABCA4-related retinopathy.
Eye (Lond)
; 38(14): 2718-2723, 2024 Oct.
Article
em En
| MEDLINE
| ID: mdl-38740961
ABSTRACT
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.
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Retina
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Acuidade Visual
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Transportadores de Cassetes de Ligação de ATP
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Tomografia de Coerência Óptica
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Genótipo
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Mutação
Limite:
Adolescent
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Adult
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Child
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article