Determining a Worldwide Prevalence of Oculocutaneous Albinism: A Systematic Review

Abstract

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 Results Findings showed that most data were outdated, and only 6 of 34 articles (18%) were published after 2010.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.

Genotypic Spectrum of Albinism in Mali

“…Albinism is clinically and genetically heterogeneous with 20 genes involved in oculocutaneous, ocular and syndromic forms (for review see Bakker et al, 2022, Lasseaux et al, 2022. Worldwide frequency is difficult to estimate, especially because there are large differences between continents (Kromberg et al 2023). In addition, while oculocutaneous albinism type 1 (OCA 1) is the most frequent form in Caucasian populations (Lasseaux et al, 2018), OCA 2 is most frequent in Africa (Kromberg and Kerr, 2022).…”

Unprotected: the consequences of climate change for the health of persons with albinism

“…Albinism occurs worldwide regardless of ethnicity or gender and its prevalence is estimated to be between 1:12 000 and 1:15 000 in European countries and between 1:4000 and 1:7000 in Africa, reaching as high as 1:1755 in Namibia, for instance. 1 The treatment of persons with albinism and the significant health inequalities and discrimination they experience relative to the general population has long been recognised as a significant public health concern. 2 Climate change is exacerbating these health inequalities and contributing to the exclusion of persons with albinism from education, employment and many other aspects of social participation.…”

Vision-Related Quality of Life in Danish Patients with Albinism and the Impact of an Updated Optical Rehabilitation

“…Albinism is a rare condition characterized by decreased pigmentation in skin, hair, and eyes [1]. The prevalence of oculocutaneous albinism in European populations is estimated at 1 in 10,000 to 1 in 15,000 [2], whereas prevalence data for ocular albinism are not available. Albinism is caused by variants in genes associated with melanocyte differentiation, melanin synthesis, and melanosomal proteins [3].…”