Disruption of Normal Refractive Development in Individuals with Ocular and Oculocutaneous Albinism

Abstract PurposeAlbinism is known to disrupt emmetropisation in animal models. However, it is not clear if the same effect is seen in humans. This study aimed to investigate the refractive profile in individual diagnosed with ocular albinism (OA) and oculocutaneous albinism (OCA) based on a large dataset.MethodsRequired data from 618 individuals (61% males and 39% females) diagnosed with albinism were exported from the eyeSmart electronic medical records of L V Prasad Eye Institute. Overall, there were 112 (18%) individuals diagnosed with OA and 506 (82%) with OCA. Based on the spherical equivalent refraction (SER), individuals were classified as emmetropes, myopes, and hyperopes.ResultsThe overall spherical equivalent refraction of the individuals ranged from -25.00D to +12.00D with median 0.25 (-2.00 to 2.25). The proportion of individuals with albinism (combined OA, OCA) having hyperopia and myopia (overall: N=282;46% vs. N=245;40%) were similar (p = 0.18), and the least were with emmetropia (overall: N=91;14%). Across all the age groups (0-10, 11-20, 21-30, > 30 years) the frequency of hyperopes and myopes were significantly higher (p<0.05) compared to emmetropes. Both high degrees of hyperopia and myopia were found in individual diagnosed with OA and OCA. Irrespective of the albinism type, with-the-rule (70%) astigmatism was the most prevalent compared to other types of astigmatism. The frequency of with-the-rule astigmatism was significantly high in the presence of nystagmus compared to individuals with no nystagmus in both OA (75 % vs 25%, p = 0.01) and OCA (77% vs 23 %, p = 0.014) group. Conclusion The presence of both high hyperopia and high myopia and very less numbers with emmetropia across all age groups indicates disrupted normal refractive development in individuals with albinism. With-the-rule astigmatism and nystagmus may result in meridional degradation of retinal image leading to impairment of normal emmetropisation process in individuals with albinism.