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The poorest visual acuity was found in those with OCA1A, which was associated with the highest rate of high hypermetropia (statistically significant different from other subgroups). Astigmatism was the most common visually significant refractive error across all subtypes of albinism. These results may help to clarify the prevalence of refractive errors in albino patients and aid the prediction of visual outcome in this heterogeneous population.

Homozygosity mapping is a powerful tool to identify genetic defects underlying heterogeneous AR disorders, such as RP and LCA, in consanguineous and nonconsanguineous patients. The identification of significant and large homozygous regions, which do not include any known retinal disease genes, may be a useful tool to identify novel disease-causing genes, using next generation sequencing.

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