Children with albinism may be more likely to have ASD

Children with oculo-cutaneous albinism, or OCA—the most common form of albinism—appear to have an increased likelihood of having autism spectrum disorders (ASD), according to a study from Israel. 

OCA is an inherited condition that involves the partial or complete lack of pigment in the hair, skin, and eyes. Vision problems in OCA include decreased visual acuity, light sensitivity, abnormal eye movements, strabismus, significant refractive errors, under-development of the fovea, and misrouting of the optic nerve. 

In the study, Stav Gunz and colleagues compared children with visual impairment due to OCA to children with visual impairment due to other causes. The researchers analyzed data from 708 children and teens. Of the group, 401 had a diagnosis of OCA, while 307 were vision-impaired controls matched for age and visual range. 

The researchers report that 14 of the children with OCA (or 1 in 28) had a diagnosis of autism, while only 3 of the children in the control group (or 1 in 102) were diagnosed with autism. This shows, the researchers say, that the association of autism with albinism was not explained by visual impairment alone. 

They conclude, “Raised awareness of the extent to which ASD may be a co-occurring diagnosis in children with albinism can guide professional practice ensuring that individuals with albinism and suspected ASD receive early diagnosis and possible better outcome over time.”

Citations

“The prevalence of autism among children with albinism,” Stav Gunz, Irit Rozen-Knisbacher, Anat Blumenfeld, Karen Hendler, and Claudia Yahalom, European Journal of Ophthalmology, October 3, 2023 (free online). Address: Claudia Yahalom, Department of Ophthalmology, Hadassah Medical Center, Kiryat Hadassah, POB 12000, Jerusalem, Israel, 91120, [email protected].