Jack X Kane1, Dujon RW Fuzzard1, Susan M Carden1,2

Purpose: Albinism is a heterogeneous group of genetically inherited disorders where melanin production is impaired. Ocular or oculocutaneous albinism may result in significant vision impairment from birth. Identification and treatment of refractive error during childhood plays a vital part in allowing full visual potential to be achieved. Previous reports of refractive error rates in patients with albinism have been in small cohorts, with variable results. We aim to quantify refractive error in children with ocular and oculocutaneous albinism in Victoria.

Method: A retrospective audit of patients with a clinical diagnosis of ocular or oculocutaneous albinism from the Early Vision Assessment Clinic at the Royal Victorian Eye and Ear Hospital between 2002 and 2015 was conducted. Significant refractive error was defined as a spherical equivalent greater than 4 diopters in magnitude or astigmatism greater than 1.5 diopters in magnitude. Significant anisometropia was defined as greater than 1.0 diopter in magnitude.

Results: 48 patients with a mean age of 5.7 years (range 4.2-14.3 years) were included in the study. 40 (83.3%) patients had oculocutaneous albinism and 8 (16.7%) had ocular albinism. Significant hyperopia was present in 18 (37.5%) patients and significant myopia was present in 2 (4.2%) patients in at least one eye. 40 (83.3%) patients had significant astigmatism in at least one eye. 8 (16.7%) patients had significant anisometropia.

Conclusion: Significant refractive error is a common finding in patients with ocular and oculocutaneous albinism with the majority being hyperopic in our study population.