Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective

Oculocutaneous albinism (OCA) is a group of rare, genetic disorders caused by absent/reduced melanin biosynthesis. The aim of this study was to explore the neurovisual, cognitive, adaptive, and behavioral profile of children affected by OCA, also evaluating any possible effect of the visual acuity deficit on the clinical profile and genotype–phenotype correlations. Eighteen children (9 males, mean age 84 months ± 41; range 18–181 months) with a molecular confirmed diagnosis of OCA were enrolled in the study. We collected data on clinical history, neurodevelopmental profile, neurological and neurovisual examination, and cognitive, adaptive, and emotional/behavioral functioning. A global neurodevelopmental impairment was detected in 56% of the children, without evolving into an intellectual disability. All the patients showed signs and symptoms of visual impairment. Low adaptive functioning was observed in 3 cases (17%). A risk for internalizing behavioral problems was documented in 6 cases (33%), for externalizing problems in 2 (11%), and for both in 5 (28%). Twelve children (67%) showed one or more autistic-like features. Correlation analyses revealed significant associations between the visual acuity level and performance intelligence quotient (p = 0.001), processing speed index (p = 0.021), Vineland total score (p = 0.020), Vineland communication (p = 0.020), and socialization (p = 0.037) domains. No significant correlations were found between genotype and phenotype. Conclusion: Children with OCA may present a global neurodevelopmental delay that seems to improve with age and emotional/behavioral difficulties, along with the well-known visual impairment. An early neuropsychiatric evaluation and habilitative training are recommended to improve vision-related performance, neurodevelopment, and any psychological difficulties. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00431-023-04938-w.