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Open Access 03-04-2023 | RESEARCH

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

Authors: Jessica Galli, Erika Loi, Laura Dusi, Nadia Pasini, Andrea Rossi, Vera Scaglioni, Lucia Mauri, Elisa Fazzi

Published in: European Journal of Pediatrics | Issue 6/2023

Abstract

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.

What is Known: • Children with oculocutaneous albinism show dermatological and ophthalmological problems. • An early visual impairment may have negative implications on motor, emotional, and cognitive processes that would allow the child to organize his or her experiences.
What is New: • In addition to a variable combination of ocular signs and symptoms, children with oculocutaneous albinism may present an early neurodevelopmental delay and emotional/behavioral difficulties. • An early visual treatment is recommended to improve vision-related performance, neurodevelopment, and any psychological difficulties.

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Title: Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective
Authors: Jessica Galli
Erika Loi
Laura Dusi
Nadia Pasini
Andrea Rossi
Vera Scaglioni
Lucia Mauri
Elisa Fazzi
Publication date: 03-04-2023
Publisher: Springer Berlin Heidelberg
Published in: European Journal of Pediatrics / Issue 6/2023
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-023-04938-w

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

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Keynote webinar | Spotlight on medication adherence

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