Neuropediatrics 2022; 53(01): 007-014
DOI: 10.1055/s-0041-1732430
Original Article

Neurodevelopmental Profile in Children Affected by Ocular Albinism

1   Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
2   Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy
,
Erika Loi
2   Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy
3   Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy
,
Alessandra Morandi
1   Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
2   Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy
,
Vera Scaglioni
2   Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy
,
Andrea Rossi
2   Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy
,
Anna Molinaro
2   Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy
,
Nadia Pasini
4   Department of Neurological and Vision Sciences, ASST Spedali Civili of Brescia, Eye Clinic, Brescia, Italy
,
Francesco Semeraro
5   Department of Neurological and Vision Sciences, ASST Spedali Civili of Brescia and University of Brescia, Eye Clinic, Brescia, Italy
,
Giulio Ruberto
6   Department of Surgical and Clinical, Diagnostic and Pediatric Sciences, Section of Ophthalmology, Univeristy of Pavia, IRCCS Fondazione Policlinico San Matteo, Pavia, Italy
,
Elisa Fazzi
1   Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
2   Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy
› Author Affiliations

Abstract

Aim The aim of this study was to detail the neurodevelopmental profile of subjects affected by ocular albinism (OA) and to collect data on GPR143 gene analysis.

Design The design of the study involves a retrospective longitudinal observational case series.

Methods We collected data on the neurodevelopmental profile of 13 children affected by OA from clinical annual assessments conducted for a period of 6 years after the first evaluation. We described visual profile, neuromotor development and neurological examination, cognitive profile, communication and language skills and behavioral characteristics. The GPR143 gene analysis was performed as well.

Results Children presented a variable combination of ocular and oculomotor disorders unchanged during the follow-up, a deficit in visual acuity and in contrast sensitivity that progressively improved. Abnormalities in pattern visual evoked potential were found. No deficits were detected at neurological examination and neuromotor development except for a mild impairment in hand-eye coordination observed in five cases. A language delay was observed in five cases, two of whom had also a developmental quotient delay at 2 years evolving to a borderline/deficit cognitive level at preschool age, difficulties in adaptive behavior and autistic-like features were found. Mutations in the GPR143 gene were identified in the two patients who presented the most severe clinical phenotype.

Conclusion Children with OA may share, in addition to a variable combination of ocular signs and symptoms, a neurodevelopment impairment regarding mostly the cognitive, communicative, and social area, especially those with GPR143 mutation.

Supplementary Material



Publication History

Received: 21 January 2021

Accepted: 10 June 2021

Publication Date:
29 July 2021 (online)

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