Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient
            from Latin America: a case report

Takitani, Guilherme Eiichi da Silva; Azevedo, Andréia Aparecida de; Motta, Fabiana Louise; Teixeira, Sérgio Henrique; Sallum, Juliana Maria Ferraz; Vessani, Roberto Murad

doi:10.5935/0004-2749.20180084

Cited by 2 publications

(2 citation statements)

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“…Reported prevalence of XFS varies significantly across populations, with 0% in Eskimos [ 31 ], 0.8% in Kathmandu (Nepal) [ 39 ], 1.8% USA [ 40 ], 6.45% in Pakistan [ 41 ], 7.4% in India [ 42 ], 9.6% in Iran [ 43 ], 5–25% in Scandinavian countries [ 31 ], and 0.6% [ 44 ] and 38% in Navajo Indians [ 45 ]. Minimal XFS data exist in Latin American populations besides a single case in Brazil [ 46 ], a prevalence of 14.5% in Argentina [ 47 ], 15% in a western Guatemalan cataract population [ 36 ], and 24% in a Mayan cohort (22% had XFS and cataracts) [ 38 ]. Our specific Guatemalan population presenting to outreach eye camps to assess their vision and for possible surgical intervention appears to have a high prevalence of XFS/XFG of 36%.…”

Section: Discussionmentioning

confidence: 99%

Exfoliation Syndrome in Baja Verapaz Guatemala: A Cross-Sectional Study and Review of the Literature

Paulson

Thomas

Gonzalez

et al. 2022

JCM

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There are little epidemiologic data on exfoliation syndrome (XFS) or exfoliation glaucoma (XFG) in Guatemala, especially in the underserved Baja Verapaz region. This observational study assessing XFS/XFG and demographic factors of this region aims to better understand unique exogenous and endogenous risk factors associated with XFS/XFG in Guatemala. During Moran Eye Center’s global outreach medical eye camps from 2016–2017, 181 patients age 15 years and older presented for complete eye exams. These individuals were screened for eye disease and evaluated for possible surgical interventions that could occur during the camps to improve eyesight. During the dilated exams, XFS was noted as missing or present. Of those 181, 10 had insufficient data and 18 lacked a definitive diagnosis of XFS or XFG, resulting in 153 evaluable patients; 46 XFS and 9 XFG were identified. Age, gender, hometown, ancestry (languages spoken by parents and grandparents), past medical history, family medical history, and occupational data (only 2017 trip) were obtained for each patient. The most common occupations of these individuals were farming and housekeeping. Higher rates of XFS/XFG were noted in individuals of rural compared to urban settings and Mayan speaking people compared with Spanish speakers. Based on this subset of patients, with various ocular pathologies being evaluated during medical eye outreach camps, the prevalence of XFS/XFG appeared to be 36%, a high prevalence compared to other world populations. Location and higher altitude, along with a farming occupation, may contribute to XFS development and subsequent progression to XFG. To our knowledge, this is the largest study looking at the epidemiology of XFS/XFG in the Baja Verapaz region of Guatemala for those over the age of 15 years seeking eye exams and interventions.

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Section: Discussionmentioning

confidence: 99%

Exfoliation Syndrome in Baja Verapaz Guatemala: A Cross-Sectional Study and Review of the Literature

Paulson

Thomas

Gonzalez

et al. 2022

JCM

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“…Notably, LOXL1 has not been researched explicitly in South American populations but has been confirmed within a Latin American population from Mexico City [109]. There has been one case report from Brazil that has confirmed the association of LOXL1 and PXF [117]. Further research is needed to confirm that the genetic association is manifested within individual populations that have not yet been studied.…”

Section: Loxl1mentioning

confidence: 99%

A global genetic epidemiological review of pseudoexfoliation syndrome

Hicks

Siedlecki

Haaland

et al. 2021

Exploration of Medicine

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Pseudoexfoliation (PXF) syndrome is an important public health concern requiring individual population level analysis. Disease prevalence differs by geographic location and ethnicity, and has environmental, demographic, genetic, and molecular risk factors have been demonstrated. Epidemiological factors that have been associated with PXF include age, sex, environmental factors, and diet. Genetic and molecular components have also been identified that are associated with PXF. Underserved populations are often understudied within scientific research, including research about eye disease such as PXF, contributing to the persistence of health disparities within these populations. In each population, PXF needs may be different, and by having research that identifies individual population needs about PXF, the resources in that population can be more efficiently utilized. Otherwise, PXF intervention and care management based only on the broadest level of understanding may continue to exacerbate health disparities in populations disproportionally burdened by PXF.

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Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case report

Cited by 2 publications

References 0 publications

Exfoliation Syndrome in Baja Verapaz Guatemala: A Cross-Sectional Study and Review of the Literature

Exfoliation Syndrome in Baja Verapaz Guatemala: A Cross-Sectional Study and Review of the Literature

A global genetic epidemiological review of pseudoexfoliation syndrome

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