دورية أكاديمية
أعرض في EDS

Assessing Foveal Structure in Individuals with TYR R402Q and S192Y Hypomorphic Alleles.

التفاصيل البيبلوغرافية
العنوان: Assessing Foveal Structure in Individuals with TYR R402Q and S192Y Hypomorphic Alleles.
المؤلفون: Ayala GD; School of Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin., Linderman RE; Ophthalmology & Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin., Valenzuela RK; Center for Precision Medicine, Marshfield Clinic Research Institute, Marshfield, Wisconsin., Woertz EN; School of Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin., Brilliant M; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin., Tarima S; Division of Biostatistics, Institute of Health and Equity, Medical College of Wisconsin, Milwaukee, Wisconsin., Carroll J; Ophthalmology & Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin.; Cell Biology, Neurobiology & Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin.
المصدر: Ophthalmology science [Ophthalmol Sci] 2021 Nov 17; Vol. 1 (4), pp. 100077. Date of Electronic Publication: 2021 Nov 17 (Print Publication: 2021).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier, B.V Country of Publication: Netherlands NLM ID: 9918230896206676 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-9145 (Electronic) Linking ISSN: 26669145 NLM ISO Abbreviation: Ophthalmol Sci Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: [Amsterdam] : Elsevier, B.V., [2021]-
مستخلص: Purpose: To assess the impact of two TYR hypomorphic alleles (R402Q and S192Y) on foveal pit and foveal avascular zone (FAZ) morphology.
Design: Prospective, cross-sectional study.
Participants: A total of 164 participants with normal vision (67 male and 97 female; mean ± standard deviation [SD] age = 30.5 ± 12.8 years) were recruited.
Methods: Sequencing of more than 100 pigmentation-related genes was performed, and results were reviewed for the presence or absence of the TYR polymorphisms R402Q (rs1126809) and S192Y (rs1042602). Volumetric scans of the macula were obtained for each participant using OCT, and retinal thickness maps were analyzed using custom software. OCT angiography was used to image the FAZ, which was manually segmented and measured. Linear mixed model analysis was used to assess associations between genotype and foveal pit morphology.
Main Outcome Measures: Foveal pit depth, diameter, volume, and FAZ area in relation to the presence of hypomorphic alleles R402Q and S192Y on the TYR gene.
Results: Heterozygosity for the TYR R402Q allele was associated with decreased pit diameter ( P = 0.0094) and decreased FAZ area ( P = 0.025). Homozygosity for the TYR R402Q allele was associated with reduced pit volume ( P = 0.0005), decreased pit depth ( P = 0.007), reduced pit diameter ( P = 0.0052), and reduced FAZ area ( P = 0.0012). Homozygosity for TYR S192Y was associated with reduced FAZ area ( P = 0.016). Heterozygosity for the TYR S192Y allele was not associated with differences in foveal pit depth, diameter, volume, or FAZ area ( P  > 0.05).
Conclusions: Although the role of the TYR R402Q and S192Y hypomorphic alleles in albinism remains controversial, our data suggest that these variants contribute to the extensive inter-individual variability in foveal morphology in the normal population. Our results contribute to the evolving picture of the relationship between ocular pigmentation and foveal morphology.
(© 2021 by the American Academy of Ophthalmology.)
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فهرسة مساهمة: Keywords: FAZ, foveal avascular zone; Foveal avascular zone; Foveal development; Foveal morphology; Genetics; Pigmentation; Retina; Retinal imaging; SD, standard deviation
تواريخ الأحداث: Date Created: 20221017 Latest Revision: 20221019
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC9560529
DOI: 10.1016/j.xops.2021.100077
PMID: 36246950
قاعدة البيانات: MEDLINE
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