Vision and Eye Health in Trisomy 18
Understanding ophthalmic findings, CVI, and the importance of early screening.
Understanding Eye and Vision Concerns in Trisomy 18
Children with Trisomy 18 are living longer, fuller lives than older medical literature once suggested. As life expectancy improves, it is increasingly important to better understand the medical, developmental, and vision-related needs of children with Trisomy 18.
A recent retrospective chart review from Ann & Robert H. Lurie Children’s Hospital of Chicago examined ophthalmic findings in children diagnosed with Trisomy 18. The goal of the study was to describe common eye and vision conditions seen in this population and support the need for updated ophthalmology screening and management guidelines.
Why Eye Care Matters
Vision plays an important role in communication, learning, mobility, development, and quality of life. For children with Trisomy 18, identifying eye conditions early may help families and care teams better support access to therapies, school services, and daily communication.
Some vision diagnoses may also help explain developmental or educational needs, including the need for classroom supports, visual accommodations, and assistive technology.
Study Overview
The study reviewed records from 20 children with Trisomy 18 who were seen in the ophthalmology clinic at Lurie Children’s Hospital between May 2011 and August 2025.
Information reviewed included:
Age
Type of Trisomy 18
Systemic medical conditions
Visual acuity
Eye and vision diagnoses
Eye surgeries or procedures
Key Findings
The study found that ophthalmic concerns varied widely among children with Trisomy 18. Many children had more than one eye or vision-related diagnosis.
Common findings included:
Strabismus
Strabismus, or eye misalignment, was one of the most common findings. Some children required surgery to improve alignment.
Refractive errors
Many children had vision correction needs such as farsightedness, astigmatism, or other refractive errors.
Cortical/Cerebral Visual Impairment
CVI was identified as an important diagnosis that may be underrecognized in children with Trisomy 18. Recognizing CVI can help families access appropriate vision supports, school accommodations, and therapy strategies.
Ptosis
Some children had drooping of the eyelid, also known as ptosis. In certain cases, surgical repair may be considered.
Nasolacrimal duct obstruction
Some children experienced blocked tear ducts, which may require monitoring or treatment.
Other findings
Additional findings included optic nerve abnormalities, nystagmus, amblyopia, papilledema, and other structural or functional eye conditions.
Eye Surgery and Treatment
In this review, 5 out of 20 children had eye surgery. These included surgeries for strabismus and ptosis repair.
The poster emphasizes that surgical treatment for conditions such as strabismus, ptosis, nasolacrimal duct obstruction, and hydrocephalus-related eye concerns may be considered to improve comfort, function, access to vision, and quality of life.
Why This Research Is Important
Historically, Trisomy 18 was often described using outdated survival expectations. Because more children are living longer, medical care guidelines must continue to evolve.
This study supports the need for:
Earlier ophthalmology screening
Better recognition of CVI
Updated care recommendations
More long-term follow-up studies
Improved access to vision supports and school services
Greater awareness among providers and families
Suggested Ophthalmology Screening Questions for Families
Families may want to ask their child’s care team:
Has my child had a complete pediatric ophthalmology evaluation?
Does my child need glasses or vision correction?
Are there signs of strabismus or eye misalignment?
Could my child have CVI?
Would a functional vision evaluation be helpful?
Are school-based vision accommodations needed?
Should we involve a teacher of the visually impaired?
Are any surgical or non-surgical treatments recommended?
For Schools and Therapy Teams
Vision diagnoses can affect how a child learns, communicates, moves, and interacts with their environment. Children with Trisomy 18 may benefit from accommodations such as:
High-contrast materials
Reduced visual clutter
Consistent positioning
Extra processing time
Larger images or symbols
Lighting adjustments
AAC access modifications
Functional vision assessments
Teacher of the Visually Impaired support
CVI-informed educational strategies
Parent-Friendly Summary
Eye and vision concerns are common in children with Trisomy 18. These concerns may include eye alignment issues, glasses needs, CVI, eyelid differences, blocked tear ducts, and other diagnoses.
Regular ophthalmology care can help children access their environment more comfortably and support communication, learning, development, and quality of life.
As children with Trisomy 18 continue to live longer, more research is needed to better understand long-term vision needs and create updated care guidelines.
Acknowledgment
This research was inspired by mothers of children with Trisomy 18 affiliated with the Edwards Syndrome Association. ESA is grateful for continued efforts to expand research, improve care, and create more informed medical guidance for children and families affected by Trisomy 18.
