Characterization of West African Crystalline Macular Dystrophy in the Ghanaian Population

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dc.contributor.authorSampalli, A.
dc.contributor.authorSilvestri, V.
dc.contributor.authorCushley, L.N.
dc.contributor.authorAkafo, S.
dc.contributor.authorAmoaku, W.M.
dc.contributor.authorAmissah-Arthur, K.N.
dc.contributor.authorLartey, S.
dc.contributor.authorHageman, C.N.
dc.contributor.authorHubbard, W.C.
dc.contributor.authorPappas, C.M.
dc.contributor.authorZouache, M.A.
dc.contributor.authorStevenson, M.
dc.contributor.authorHageman, G.S.
dc.contributor.authorSilvestri, G.
dc.contributor.authorGhana AMD Study Group
dc.date.accessioned2022-06-28T10:41:46Z
dc.date.available2022-06-28T10:41:46Z
dc.date.issued2022
dc.descriptionResearch Articleen_US
dc.description.abstractObjective West African crystalline maculopathy (WACM) is characterized by the presence of macular hyperrefractile crystal-like deposits. Although the underlying pathophysiology has not been elucidated, a few biologic drivers have been proposed. We analyzed a large WACM case series to gain a more robust understanding of its features and etiology. Design Prospective, cross-sectional cohort study. Subjects Participants with WACM were selected from the large cohort recruited in the Ghana Age-Related Macular Degeneration Study. Methods Demographic and detailed medical histories, full ophthalmic examinations, digital color fundus photographs, and OCT images were obtained. All cases with WACM were evaluated by 3 retina experts. Crystal numbers, location, and distribution were determined. Associations between WACM and White age-related macular degeneration (AMD) risk variants were assessed using Firth’s bias-reduced logistic regression, including age and sex as covariates. Main Outcome Measures Phenotypic features of, and genetic associations with, WACM. Results West African crystalline maculopathy was identified in 106 eyes of 53 participants: 22 were bilateral and 24 were unilateral. Grading for AMD was not possible in 1 eye in 7 participants with WACM; therefore, laterality was not assessed in these subjects. Thirty-eight participants were women and were 14 men; sex was unrecorded for 1 participant. The mean age was 68.4 years (range, 45–101 years). Typical WACM crystals were demonstrated on OCT, which were more easily identified at high contrast and predominantly located at the inner limiting membrane. In eyes with copathology, crystals localized deeper in the inner retina, with wider retinal distribution over copathology lesions. There was no association with age or sex. A significant association was observed between the complement factor H (CFH) 402H risk variant and WACM. Conclusions This study confirms the localization of crystals adjacent to the inner limiting membrane and distribution over lesions in eyes with copathology. The evaluation of OCT images under high contrast allows improved identification. West African crystalline maculopathy may be associated with the CFH-CFHR5 AMD risk locus identified among Whites; however, it is also possible that the combination of crystals and the CFH 402H allele increases the risk for developing late AMD. Further analyses using larger sample sizes are warranted to identify causalities between genotype and WACM phenotype.en_US
dc.identifier.otherhttps://doi.org/10.1016/j.oret.2022.03.006
dc.identifier.urihttps://www.sciencedirect.com/science/article/abs/pii/S2468653022001051?via%3Dihub#!
dc.identifier.urihttp://ugspace.ug.edu.gh/handle/123456789/38142
dc.publisherElsevieren_US
dc.subjectCrystallineen_US
dc.subjectGenetic associationsen_US
dc.subjectOCTen_US
dc.subjectOptical coherence tomographyen_US
dc.subjectWACMen_US
dc.subjectWest African Crystalline Dystrophyen_US
dc.titleCharacterization of West African Crystalline Macular Dystrophy in the Ghanaian Populationen_US
dc.typeArticleen_US

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