Oculocutaneous albinism (OCA) is an inherited disorder affecting the visual system and skin pigmentation.Our aim CUTTING SHEARS was to evaluate genetic and clinical heterogeneity in a cohort of Slovenian paediatric patients with clinically suspected OCA using advanced molecular-genetics approach.In as much as 20 out of 25 patients, genetic variants explaining their clinical phenotype were identified.The great majority of patients (15/25) had genetic variants in TYR gene associated with OCA type 1, followed by variants in TYRP1, SLC45A2 and HPS1 genes causative for OCA3, OCA4 and Pets Hermansky-Pudlak syndrome type 1, respectively.
We concluded that OCA phenotype could not predict genotype and vice versa.Nevertheless, the diagnostic yield after targeted next generation sequencing (NGS) was 80% and proved to be affective in our paediatric cohort of patients with various degree of OCA.Even in 16 patients with normal complexion the diagnostic yield was 62,5%.Interestingly, we have identified a patient of white European ancestry with OCA3, which is an extremely rare report, and one patient with OCA due to the Hermansky-Pudlak syndrome type 1.