Disparities in Vision Health and Eye Care

Elam, Angela R.; Tseng, Victoria L.; Rodriguez, Tannia M.; Mike, Elise V.; Warren, Alexis K.; Coleman, Anne L.; Aguwa, Ugochi T.; Alabiad, Chrisfouad R.; Briceño, César A.; Capó, Hilda; Contreras, Melissa; Edmond, Jane; Ervin, Ann‐Margret; Fountain, Tamara R.; Friedman, David S.; Gao, James; Gordon, Lynn K.; Harewood, Joy; Kitayama, Ken; Knight, O'Rese J; Lee, Aaron; Lee, Paul; Legault, Gary L; Nwanyanwu, Kristen; Olivier, Mildred M.G.; Pérez-González, César E.; Randolph, Jessica; Ross, Ahmara G.; Shoge, Ruth Y.; Solomon, Sharon D.; Williams, Basil K.; Woreta, Fasika A.; Wright, Charles B.; Zebardast, Nazlee

doi:10.1016/j.ophtha.2022.07.010

Cited by 46 publications

(40 citation statements)

References 284 publications

(191 reference statements)

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“…31 This inequality affects all aspects of medicine, with particular challenges in expensive elds such as advanced therapies and molecular genetics, which are unreachable to huge numbers of people around the world. 32,33 There is a need to advocate for and work towards equal access, not only for ethical purposes but also because more representative global data will increase our understanding of disease and potentially how different environmental factors play a role.…”

Section: Discussionmentioning

confidence: 99%

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina

Schlottmann

Pinto²,

Labat³

et al. 2022

Preprint

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Background: To conduct the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describe the comprehensive genetic profile of a large cohort of patients. Methods: This is a retrospective study analyzing medical records of 22 ophthalmology and genetics services throughout 13 Argentinian provinces. Patients with a clinical diagnosis of an ophthalmic genetic disease and a history of genetic testing were included. Medical, ophthalmological and family history was collected. Results: 773 patients from 637 families were included, with 98% having inherited retinal disease. The most common phenotype was retinitis pigmentosa (RP, 62%). Causative variants were detected in 377 (59%) patients. USH2A, RPGR, and ABCA4 were the most common disease-associated genes. USH2Awas the most frequent gene to cause RP, RDH12 early onset severe retinal dystrophy, ABCA4 Stargardt disease, PROM1 cone-rod dystrophy, and BEST1 macular dystrophy. The most frequent variants were RPGRc.1345C>T, p.(Arg449*) and USH2A c.15089C>A, p.(Ser5030*). The study revealed 159/448 (35%) previously unreported pathogenic/likely pathogenic variants and 5 likely founder mutations. Conclusions: We present the genetic landscape of IED in Argentina and the largest cohort in South America. This data will serve as a reference for future genetic studies, aid diagnosis, inform counselling, and assist in addressing the largely unmet need for clinical trials to be conducted in the region.

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Section: Discussionmentioning

confidence: 99%

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina

Schlottmann

Pinto²,

Labat³

et al. 2022

Preprint

View full text Add to dashboard Cite

show abstract

“…Patients feel more welcome if there is someone in the office who they can relate to or has some shared life experience. 2 Furthermore, concordance between a patient and a provider is associated with better perceptions of care and care efficacy. 2,3 Although there are less data about care team and physician concordance in ophthalmologydan opportunity for important researchdevidence in other areas of medicine suggests that this is an important element of improving care in nonmajority patients.…”

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confidence: 99%

Why Ophthalmologists Should Care about Disparities in Vision Health

Fountain¹,

Lee²,

Parke³

2022

Ophthalmology

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“…In this issue of Ophthalmology, disparities in vision health and eye care are outlined by the American Academy of Ophthalmology's (AAO's) Task Force on Disparities in Eye Care (see page xxx). 1 The work done by this task force provides a comprehensive view of the existing disparities, insight into why and how these disparities persist, and a roadmap for how we can all help to eliminate disparities and achieve equity in eye care.…”

mentioning

confidence: 99%