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Investigative Ophthalmology & Visual... Jul 2023The aim of this systematic review was to investigate the available data on the epidemiology of oculocutaneous albinism (OCA) around the world, and to determine whether a...
PURPOSE
The aim of this systematic review was to investigate the available data on the epidemiology of oculocutaneous albinism (OCA) around the world, and to determine whether a generalizable, worldwide prevalence figure could be proposed.
METHODS
Extensive literature search strategies were conducted, interrogating PubMed, Scopus, and Web of Science, to locate relevant literature. Ultimately 34 studies reporting original data were included for analysis.
RESULTS
Findings showed that most data were outdated, and only 6 of 34 articles (18%) were published after 2010. There were few good studies with sound methodology and large, clearly defined population samples. Only a small proportion of countries worldwide (26/193 [13%]) have produced prevalence figures for OCA. By continent, African studies were disproportionately represented (15/34 [44%]). The highest prevalence rates (range, 1 in 22 to 1 in 1300; mean, 1 in 464) were reported in population isolates. The mean prevalence from four African countries was 1 in 4264 (range, 1 in 1755 to 1 in 7900). Prevalence for three countries in Europe (mean, 1 in 12,000; range, 1 in 10,000 to 1 in 15,000) may be underestimated, as the phenotype, in fair-skinned populations, may be missed or misdiagnosed as ocular albinism or isolated visual impairment. Population rates may vary depending on local cultural factors (e.g., consanguineous matings) and may change over time.
CONCLUSIONS
The prevalence of OCA varies widely between continents and population groups, and it is often influenced by local factors. It was not possible, therefore, to determine a single, generalizable worldwide prevalence rate for OCA, although continental rates for Africa and Europe are useful.
Topics: Humans; Mutation; Prevalence; Albinism, Oculocutaneous; Phenotype; Albinism, Ocular
PubMed: 37440261
DOI: 10.1167/iovs.64.10.14 -
Archivos de La Sociedad Espanola de... Feb 2023To identify the ocular pathologies that are reported as causes of low vision in children.
OBJECTIVE
To identify the ocular pathologies that are reported as causes of low vision in children.
MATERIAL AND METHODS
The systematic search was carried out in Medline (PubMed), Embase and Lilacs. Observational studies with populations between 0-18 years of age, reporting visual acuity data between 20/60-20/400 and reporting the frequency of ocular pathologies were selected. Studies in which the diagnosis of the condition had not been verified by a professional, or which covered only cases of blindness, uncorrected refractive errors, or amblyopia, were excluded. The methodological quality of the articles was evaluated using the Joanna Briggs Institute instrument for prevalence studies.
RESULTS
27 studies conducted in Asia (13 publications), Africa (6 studies), Oceania (4 studies), Europe and South America (2 studies each) were included. The most reported causes of low vision were: cataract, with prevalence between 0.8% and 27.2%; albinism with from 1.1% to 47%; nystagmus, with prevalence between 1.3% and 22%; retinal dystrophies between 3.5% and 50%; retinopathy of prematurity (ROP) with prevalence between 1.1% and 65.8%, optic atrophy between 0.2% and 17.6%, and glaucoma from 2.4% to 18.1%.
CONCLUSIONS
Cataract, albinism and nystagmus are the ocular pathologies most mentioned by studies as a cause of low vision in children, as well as retinal diseases such as ROP and optic nerve diseases such as atrophy. However, there are numerous eye conditions that can result in low vision in the pediatric population.
Topics: Infant, Newborn; Humans; Child; Vision, Low; Blindness; Glaucoma; Cataract; Retinopathy of Prematurity; Nystagmus, Pathologic
PubMed: 36068132
DOI: 10.1016/j.oftale.2022.06.016