Autism Spectrum Disorder

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This article reviews the ocular associations of autism spectrum disorder (ASD) and provides practical recommendations for ophthalmic assessment and care.

Autism Spectrum Disorder in Ophthalmology

Autism spectrum disorder (ASD) is an early-appearing neurodevelopmental disorder, characterized by social communication deficits and restricted, repetitive behavioral patterns. The specific DSM-5 criteria can be found here[1], but will not be discussed in detail in this article. The etiology of ASD is not fully understood; however, genetic and environmental factors affecting early brain development are believed to contribute.[2] The prevalence of ASD is approximately 1 in 31 children, with boys being more than 3 times as likely as girls to be diagnosed.[3] ASD encompasses a wide range of conditions and patient presentations, leading to difficulties in diagnosis and management.

Individuals  with ASD are at risk for various ophthalmologic disorders. The prevalence of ocular pathologies such as refractive errors, amblyopia, and strabismus is higher in children with ASD.[4] Differences in communication, sensory processing, and tolerance of examination procedures may make ophthalmic assessment more challenging, potentially leading to delayed identification of ocular conditions. Some children with ASD are nonspeaking or minimally speaking, requiring clinicians to adapt examination techniques to their individual communication needs.[5][6] Ophthalmologists must be aware of these challenges and build effective practices to manage patients with ASD.

Ocular and Visual Associations in Autism Spectrum Disorder

Children with ASD have an increased prevalence of certain ocular conditions, particularly refractive errors, strabismus, and amblyopia. Differences in visual attention, gaze patterns, and visual processing have also been reported. Less common ocular conditions, including nutritional optic neuropathy, may occur in select patients.

Refractive Error, Strabismus, and Amblyopia:
  • Refractive errors were found in up to 42% of children with ASD[7]
  • Strabismus is commonly found in patients with ASD, potentially due oculomotor dysfunction and atypical processing of visual tracking[8][9][10]
  • Amblyopia is commonly found in those with ASD[9]
  • Some studies have reported a narrower functional field of view in individuals with ASD, reflecting differences in visual attention rather than necessarily indicating peripheral visual field loss.[9][11]
Facial Recognition and Visual Attention:
  • Facial recognition difficulties have been found in those with ASD, theorized to be due to abnormalities in the development of the fusiform gyrus[12][13][14]
  • Atypical gaze patterns have been commonly found in those with ASD, such as avoiding eye contact and focusing on other areas of the face[13][15]
Deficits in Color Vision:
  • Color discrimination difficulties are commonly found in ASD, potentially due to changes at the retinal level or differences in visual processing.  This may be due to impaired S-cone photoreceptor function and altered activity in retinal ganglion cells, as well as atypical processing in the magnocellular and koniocellular systems[16][17][18]
Optic Nerve Abnormalities and Nutritional Optic Neuropathy:
  • Restrictive eating patterns in some children with ASD may lead to nutritional deficiencies. Rare cases of optic neuropathy associated with deficiencies in vitamin B12 or vitamin A have been reported.[19][20]
  • Other reported optic nerve abnormalities in children with ASD include optic atrophy secondary to hydrocephalus and congenital optic nerve anomalies, such as optic nerve hypoplasia (ONH). Autistic features have also been reported in children with ONH.[7][21]

Ophthalmic Assessment of Children with Autism Spectrum Disorder

Vision Screening Recommendations

Children with neurodevelopmental disorders, including ASD, may be at increased risk for ocular conditions such as refractive error, strabismus, and amblyopia. The American Academy of Ophthalmology (AAO) recommends comprehensive ophthalmic evaluation for children who are at increased risk of ocular disorders, fail vision screening, or cannot be reliably screened. However, children with ASD are less likely to receive proper vision screening during routine well-child visits and make appointments with ophthalmologists due to challenges with cooperation and communication.[22]

To address these challenges, the AAO’s Pediatric Eye Evaluations Preferred Practice Pattern supports the use of instrument-based screening methods, which may be more successful in children with ASD who have difficulty completing conventional vision screening. Tools such as photoscreeners and handheld autorefractors minimize the need for verbal instruction and active participation, which can be challenging for some children with ASD. However, they do not replace a comprehensive ophthalmic examination when clinically indicated.[22]

Strategies for Ophthalmic Examination in Children with ASD

Successful ophthalmic assessment of children with ASD often requires an individualized approach. Examination techniques should be adapted to the child's developmental level, communication preferences, sensory sensitivities, and ability to participate in testing.

Specialized Exam Protocol: Communication

Communication is a major barrier in traditional exams, so alternative methods are necessary. For children who have difficulty with live communication, they can be provided with familiar communication devices that they use habitually like an iPad to communicate “yes” or “no.” Providers should ask short, simple questions that have easy-to-understand answers. Providers should speak slowly, allowing the child adequate time to process the information and respond. The examination environment should be adapted to the child's sensory needs and preferences. Minimizing unnecessary noise, distractions, and sensory stimulation may improve examination tolerance.[23]

Example of social story to familiarize child with ophthalmologist. Credit to Coulter et al 2015.[23]

Specialized Exam Protocol: Visual Aids and Social Stories

Visual aids and social narratives may help prepare children for an eye examination by increasing familiarity with the examination process. Providing images that depict how a child participates in the exam alongside verbal instructions helps bridge communication gaps. Developing a “social story” about the doctor’s visit, including descriptions of who the doctor is and what the child can expect, helps prepare the child in advance. Repeated exposure to these materials builds familiarity and reduces anxiety, which can decrease the likelihood of tantrums or behavioral meltdowns. Modeling positive, interactive behavior within these stories also encourages cooperation. A visual schedule featuring photos of each step in the screening process may be offered and used during the visit to help guide the child through the experience. These materials may be shared with caregivers before the appointment to help prepare the child for the examination.[23]

Example of visual schedule of ophthalmology visit to help child learn what to expect during a visit, increasing cooperation. Credit to Coulter et al 2015.[23]

Specialized Exam Protocol: Behavioral Techniques

Behavioral strategies such as shaping and high-probability/low-probability request sequences are useful tools for facilitating child cooperation. Shaping involves gradually guiding the child toward the desired behavior by breaking the task into smaller, manageable steps. For example, before performing a full eye exam, a provider may begin by shining the indirect ophthalmoscope beam on the patient’s leg. Once the child tolerates that, the provider moves to the shoulder, then to the face, and finally to the eyes—the ultimate goal. Starting with high-probability requests (tasks the child is likely to complete) helps build momentum before progressing to low-probability requests (more difficult tasks). This approach may improve the child's comfort and participation, allowing more components of the examination to be completed.[23]

Sedation-Assisted Ophthalmic Examination

In select children with ASD, a complete ophthalmic examination may not be possible despite modifications to the examination environment and the use of behavioral and communication strategies. Sedation-assisted examination may be considered when clinically necessary. A single-center retrospective cohort study reported a 98% ophthalmic examination completion rate with oral midazolam (0.5 mg/kg, up to a maximum dose of 15 mg) in children with autism and other developmental disorders who were previously unable to undergo examination. These findings suggest that oral midazolam may be a useful adjunct in select patients.[24] However, sedation should only be undertaken in an appropriately monitored setting by clinicians trained in pediatric sedation, following institutional protocols.

The Role of Parental Questionnaires

When a complete ophthalmic examination cannot be performed, caregiver observations may provide valuable supplementary information about the child's visual function and behaviors. Parents often have a deep understanding of their child’s visual behaviors and sensory experiences. Structured questionnaires can help clinicians gather insights into how the child interacts with their environment visually. This information can provide a more holistic picture of the child’s visual function and guide further evaluation or intervention when direct examination results are limited.[25]

References

  1. ↑ American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. American Psychiatric Association Publishing; 2022. doi:10.1176/appi.books.9780890425787
  2. ↑ Lord C, Elsabbagh M, Baird G, Veenstra-Vanderweele J. Autism spectrum disorder. Lancet. 2018;392(10146):508-520. doi:10.1016/S0140-6736(18)31129-2
  3. ↑ Shaw KA, Williams S, Patrick ME, et al. Prevalence and Early Identification of Autism Spectrum Disorder Among Children Aged 4 and 8 Years - Autism and Developmental Disabilities Monitoring Network, 16 Sites, United States, 2022. MMWR Surveill Summ. 2025;74(2):1-22. doi:10.15585/mmwr.ss7402a1
  4. ↑ Lau CSL, Tong JMK, Tang EWH, Li KKW. Ocular Features and Autism Spectrum Disorder: A 10-Year Retrospective Review. Indian Pediatr. 2022;59(7):581-582.
  5. ↑ Norrelgen F, Fernell E, Eriksson M, et al. Children with autism spectrum disorders who do not develop phrase speech in the preschool years. Autism. 2015;19(8):934-943. doi:10.1177/1362361314556782
  6. ↑ Wan CY, Marchina S, Norton A, Schlaug G. Atypical hemispheric asymmetry in the arcuate fasciculus of completely nonverbal children with autism. Ann N Y Acad Sci. 2012;1252:332-337. doi:10.1111/j.1749-6632.2012.06446.x
  7. ↑ 7.0 7.1 Chang MY, Gandhi N, O’Hara M. Ophthalmologic disorders and risk factors in children with autism spectrum disorder. In: Journal of AAPOS. Vol 23. Elsevier Inc.; 2019:337.e1-337.e6. doi:10.1016/j.jaapos.2019.09.008
  8. ↑ Johnson BP, Lum JAG, Rinehart NJ, Fielding J. Ocular motor disturbances in autism spectrum disorders: Systematic review and comprehensive meta-analysis. Neurosci Biobehav Rev. 2016;69:260-279. doi:10.1016/j.neubiorev.2016.08.007
  9. ↑ 9.0 9.1 9.2 Perna J, Bellato A, Ganapathy PS, et al. Association between Autism Spectrum Disorder (ASD) and vision problems. A systematic review and meta-analysis. Mol Psychiatry. 2023;28(12):5011-5023. doi:10.1038/s41380-023-02143-7
  10. ↑ Kaplan M, Rimland B, Edelson SM. Strabismus in Autism Spectrum Disorder. Focus Autism Other Dev Disabil. 1999;14(2):101-105. doi:10.1177/108835769901400205.
  11. ↑ Song Y, Hakoda Y, Sanefuji W, Cheng C. Can they see it? the functional field of view is narrower in individuals with autism spectrum disorder. PLoS One. 2015;10(7). doi:10.1371/journal.pone.0133237
  12. ↑ McPartland JC, Webb SJ, Keehn B, Dawson G. Patterns of visual attention to faces and objects in autism spectrum disorder. J Autism Dev Disord. 2011;41(2):148-157. doi:10.1007/s10803-010-1033-8
  13. ↑ 13.0 13.1 Papagiannopoulou EA, Chitty KM, Hermens DF, Hickie IB, Lagopoulos J. A systematic review and meta-analysis of eye-tracking studies in children with autism spectrum disorders. Soc Neurosci. 2014;9(6):610-632. doi:10.1080/17470919.2014.934966
  14. ↑ Van Kooten IAJ, Palmen SJMC, Von Cappeln P, et al. Neurons in the fusiform gyrus are fewer and smaller in autism. Brain. 2008;131(4):987-999. doi:10.1093/brain/awn033
  15. ↑ Ma X, Gu H, Zhao J. Atypical gaze patterns to facial feature areas in autism spectrum disorders reveal age and culture effects: A meta-analysis of eye-tracking studies. Autism Research. 2021;14(12):2625-2639. doi:10.1002/aur.2607
  16. ↑ Franklin A, Sowden P, Notman L, et al. Reduced chromatic discrimination in children with autism spectrum disorders. Dev Sci. 2010;13(1):188-200. doi:10.1111/j.1467-7687.2009.00869.x
  17. ↑ Zachi EC, Costa TL, Barboni MTS, Costa MF, Bonci DMO, Ventura DF. Color vision losses in autism spectrum disorders. Front Psychol. 2017;8(JUN). doi:10.3389/fpsyg.2017.01127
  18. ↑ Simmons DR, Robertson AE, McKay LS, Toal E, McAleer P, Pollick FE. Vision in autism spectrum disorders. Vision Res. 2009;49(22):2705-2739. doi:10.1016/j.visres.2009.08.005
  19. ↑ Pineles SL, Avery RA, Grant T L. Vitamin B12 optic neuropathy in autism. Pediatrics. 2010;126(4). doi:10.1542/peds.2009-2975
  20. ↑ Godfrey D, Stone RT, Lee M, Chitnis T, Santoro JD. Triad of hypovitaminosis A, hyperostosis, and optic neuropathy in males with autism spectrum disorders. Nutr Neurosci. 2022;25(8):1697-1703. doi:10.1080/1028415X.2021.1892252
  21. ↑ Fink C, Borchert M. Optic nerve hypoplasia and autism: common features of spectrum diseases. J Vis Impair Blind. 2011;105:334-338.
  22. ↑ 22.0 22.1 Hutchinson AK, Morse CL, Hercinovic A, et al. Pediatric Eye Evaluations Preferred Practice Pattern. Ophthalmology. 2023;130(3):P222-P270. doi:10.1016/j.ophtha.2022.10.030
  23. ↑ 23.0 23.1 23.2 23.3 23.4 Coulter RA, Bade A, Tea Y, et al. Eye examination testability in children with autism and in typical peers. Optom Vis Sci. 2015;92(1):31-43. doi:10.1097/OPX.0000000000000442
  24. ↑ McBride GR, Stephenson KAJ, Comer G, Flanagan O. The Use of Oral Midazolam to Facilitate the Ophthalmic Examination of Children with Autism and Developmental Disorders. J Autism Dev Disord. 2021;51(5):1678-1682. doi:10.1007/s10803-020-04658-2
  25. ↑ Constable T, Pilling RF, Woodhouse JM. Testing the Hard to Test: A Pilot Study Examining the Role of Questionnaires in Eliciting Visual Behaviours in Children with Autistic Spectrum Disorder. J Autism Dev Disord. Published online August 12, 2024. doi:10.1007/s10803-024-06509-w