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Updated: Jul 15, 2025

Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography
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The prevalence of autism among children with albinism

Stav Gunz1, Irit Rozen-Knisbacher2, Anat Blumenfeld2

  • 1Faculty of Medicine, Hebrew University of Jerusalem, Israel.

European Journal of Ophthalmology
|October 3, 2023
PubMed

Insights

Children with albinism show a significantly higher prevalence of Autism Spectrum Disorder (ASD) compared to other visually impaired children. This highlights the need for early screening and support for autistic traits in albinism.

Area of Science:

  • Ophthalmology
  • Neurodevelopmental Disorders
  • Genetics

Background:

  • A known association exists between Autism Spectrum Disorders (ASD) and visual impairment.
  • Previous literature suggests a potential link, necessitating further investigation.

Purpose of the Study:

  • To determine the prevalence of ASD in children with albinism.
  • To compare this prevalence with that of ASD in children experiencing visual impairment from other causes.

Main Methods:

  • A retrospective study was conducted on children diagnosed with albinism between January 2015 and December 2020.
  • A control group of children with similar visual impairment (age, visual range) but without albinism was established.
  • The presence of Autism was identified in both albinism and control groups.

Main Results:

  • The study included 708 children (aged 1-18) with visual impairment.
  • Out of 401 children with albinism, 14 were diagnosed with ASD (1 in 28).
  • In the control group of 307 children, 3 were diagnosed with ASD (1 in 102), a statistically significant difference (p=0.03).

Conclusions:

  • The prevalence of ASD is significantly higher in children with albinism compared to visually impaired children with other conditions.
  • Findings suggest a 1 in 28 prevalence of ASD among children with albinism.
  • Increased awareness is crucial for earlier diagnosis and support for Autism Spectrum Disorder in children with albinism.
Abstract

Keywords:
congenital and stationary retinal disease < RETINAgenetic disease / congenital abnormalities < PEDIATRIC OPHTHALMOLOGYgenetics < GENETICSmolecular < GENETICSpractice management < SOCIOECONOMICS AND EDUCATION IN MEDICINE/OPHTHALMOLOGY

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