Inherited retinal diseases (IRDs) are a group of genetic disorders that affect the retina; they are caused by mutations in genes that are critical for healthy retinal function. Although inherited retinal diseases in children are far less common than refractive errors like nearsightedness or conditions like amblyopia (lazy eye), their impact can be significant. These disorders can impair a child's ability to read, engage in classroom activities and navigate his environment often without the child realizing that something is wrong with his vision.

Let us explore retinal diseases in children and the signs that may point to a vision problem rather than a learning difficulty.

When reading trouble isn't a learning disorder

Children with visual impairment often don't realize that what they see isn't normal. If the problem affects both eyes or progresses gradually, they may quietly adapt without complaint-making it easy for retinal diseases to go unnoticed. As a result, their symptoms are sometimes misattributed to learning difficulties, attention problems, or lack of effort.

That's why it's essential for parents and teachers to be alert to subtle signs that may point to a vision issue rather than a cognitive one.

While not specific to retinal diseases, the following symptoms, especially when seen together, warrant further investigation:

● 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 (e.g., holding books too close or tilting the head)

● Frequent squinting, blinking, or rubbing of the eyes

● Complaints of blurry vision or eye strain

● Clumsiness or bumping into objects (suggesting peripheral vision loss)

● Delayed visual-motor development (in younger children)

● Unexplained poor academic performance despite good effort

● Abnormal eye movements, such as nystagmus

● A family history of inherited retinal disease

If a child exhibits any of these symptoms-especially in the absence of a diagnosed learning disorder-a comprehensive eye examination is strongly recommended, ideally with a pediatric ophthalmologist or retina specialist.

The clinical exam generally includes visual acuity testing, refraction, slit-lamp examination, and a dilated retinal exam. Depending on the suspected condition, additional tests may be ordered, such as color vision assessment, optical coherence tomography (OCT), or electroretinography (ERG).

So what are some of the common inherited retinal diseases that can affect children in school years?

IRDs can lead to progressive vision loss, often beginning in childhood or adolescence, and may affect central vision, peripheral vision, night vision, or color perception depending on the specific type. While individually rare, they collectively represent a significant cause of visual impairment in the pediatric population.

Stargardt disease: The most common juvenile macular dystrophy

Among inherited retinal conditions in children, Stargardt disease is the most common. It affects approximately 1 in 8,000 to 10,000 children worldwide. Caused by mutations in the ABCA4 gene, Stargardt disease leads to progressive central vision loss due to damage in the macula-the part of the retina responsible for detailed vision.

Children with Stargardt disease may struggle with reading, identifying faces, or seeing fine print, even if their peripheral vision remains intact. Symptoms often appear between the ages of 6 and 20, though diagnosis may be delayed unless a retinal specialist is consulted.

While there is currently no cure, early diagnosis allows access to low vision aids, vision therapy, and appropriate academic support.

Other retinal diseases that may present with reading difficulties

Although Stargardt is the most prevalent, other pediatric retinal diseases can cause visual challenges that interfere with reading:

Retinitis Pigmentosa (RP): A group of genetic disorders that primarily affects peripheral and night vision. RP affects about 1 in 3,000 to 4,000 people globally and may begin in childhood. Children with early RP may complain of trouble reading in dim light or bumping into objects.

Cone Dystrophy: Impacts central vision and color perception. Children may have blurry vision, light sensitivity, or trouble distinguishing similar letters.

X-linked Juvenile Retinoschisis: Occurs almost exclusively in boys and leads to splitting of the retina, often causing central vision loss and reading impairment.

Early detection makes a difference

Inherited retinal conditions in children are rare, but their impact is significant-and they are often misinterpreted as academic or behavioral difficulties. Unlike common vision problems like nearsightedness, retinal disorders typically cannot be corrected with glasses, and as of now, there is no definitive cure. However, early diagnosis remains crucial. Prompt referral to an eye specialist can open the door to supportive interventions, low vision resources, and educational accommodations that can make a meaningful difference in a child's life.

The writer is a Consultant Ophthalmologist at Barraquer Eye Hospital, UAE

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