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Caitlin Nosanov, Ann Holleschau, C Gail Summers; A Cross Sectional Examination of BCVA by Specific Type of Albinism. Invest. Ophthalmol. Vis. Sci. 2014;55(13):6439.
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The purpose of this study is to report a large cross sectional investigation to determine if BCVA differs by specific type of albinism.
After IRB approval, a retrospective chart review of 538 patients with albinism was performed to identify 164 with a definite diagnosis of albinism as defined by mutations on a gene known to cause albinism (for OCA1B, OCA2, and HPS) or a specific phenotype (white hair and no melanin pigment in OCA1A, pigmentary mosaicism in the obligate carrier for a male with OA1). We recorded: age (at time of last visit) and binocular optotype BCVA for each of the 164 patients. Patients were grouped by age (2-5 years, 6-12 years, and ≥ 13 years) and type of albinism (OCA 1A, OCA 1B, OCA2, HPS, and OA1).
Please see Table 1
This study is unique because of the large sample size used and inclusion of only those with a known type of albinism. Other studies are based largely on phenotype rather than a known specific type of albinism. Our study shows that BCVA varies significantly by type of albinism although there is overlap in BCVA. These results will assist in counseling those with the specifics type of albinism studied here.
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