Identifying potential inherited retinal conditions in children: Recognizing when reading struggles may signal a genetic eye disorder

Inherited retinal diseases (IRDs) are a group of genetic disorders that can significantly impact a child's vision and, consequently, their academic performance. These conditions affect the retina, a vital part of the eye responsible for processing visual information.

Stargardt Disease

Stargardt disease is the most common inherited retinal condition in children, affecting approximately 1 in 8,000 to 10,000 children worldwide. It results from mutations in the ABCA4 gene, leading to progressive central vision loss. Children with Stargardt disease may struggle with reading, identifying faces, or seeing fine print, despite having intact peripheral vision.

Retinitis Pigmentosa (RP)

Retinitis Pigmentosa (RP) is a group of genetic disorders primarily affecting peripheral and night vision. It affects about 1 in 3,000 to 4,000 people globally and may begin in childhood, causing trouble reading in dim light or bumping into objects.

Cone Dystrophy

Cone Dystrophy impacts central vision and color perception, leading to blurry vision, light sensitivity, or trouble distinguishing similar letters.

Leber Congenital Amaurosis (LCA)

Although less common, Leber Congenital Amaurosis (LCA), such as RDH12-LCA, causes severe visual impairment and blindness, often from early childhood, and can significantly impact a child's ability to read.

Children exhibiting symptoms of visual impairment, such as difficulty recognizing small letters or tracking lines, increased visual fatigue during close tasks, trouble seeing in low-light environments, sensitivity to light or colors, unusual viewing behaviors, frequent squinting, blinking, or rubbing of the eyes, complaints of blurry vision or eye strain, clumsiness or bumping into objects, delayed visual-motor development in younger children, and unexplained poor academic performance despite good effort, may point to a vision problem rather than a learning difficulty.

A comprehensive eye examination, ideally with a pediatric ophthalmologist or retina specialist, is recommended for children exhibiting these symptoms. The clinical exam for IRDs may include visual acuity testing, refraction, slit-lamp examination, and a dilated retinal exam, as well as additional tests like color vision assessment, optical coherence tomography (OCT), or electroretinography (ERG).

Early detection and diagnosis of inherited retinal conditions in children are crucial, as it allows access to low vision aids, vision therapy, and appropriate academic support. Misinterpretation of inherited retinal conditions in children as academic or behavioral difficulties is common, but prompt referral to an eye specialist can lead to supportive interventions and educational accommodations that can make a meaningful difference in a child's life.

[1] National Eye Institute. (n.d.). Stargardt Disease Fact Sheet. Retrieved from https://nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/stargardt-disease [2] American Academy of Ophthalmology. (n.d.). Retinitis Pigmentosa. Retrieved from https://www.aao.org/eye-health/diseases/retinitis-pigmentosa-fact-sheet [3] National Eye Institute. (n.d.). Cone Dystrophies Fact Sheet. Retrieved from https://nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/cone-dystrophies [4] National Eye Institute. (n.d.). Leber Congenital Amaurosis Fact Sheet. Retrieved from https://nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/leber-congenital-amaurosis-fact-sheet [5] National Eye Institute. (n.d.). RDH12-LCA Fact Sheet. Retrieved from https://nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/rdh12-lca-fact-sheet

Identifying potential inherited retinal conditions in children: Recognizing when reading struggles may signal a genetic eye disorder