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January 18, 2024
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Ophthalmologists need to be on alert when dealing with retinal disorders in children

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WAILEA, Hawaii — Pediatric retina is a difficult field with high stakes. Here at the Hawaiian Eye 2024 meeting, a specialist shared pearls on what any ophthalmologist who deals with pediatric patients should not miss.

“The No. 1 thing that we have to make sure and what we don’t want to miss in the pediatric retinal world is a tumor, a retinoblastoma,” R.V. Paul Chan, MD, MSc, MBA, FACS, said.

R.V. Paul Chan, MD, MSc, MBA, FACS

If retinoblastoma is suspected, an MRI rather than a CT scan should be the primary noninvasive method to confirm the diagnosis, avoiding unnecessary radiation exposure. Differentiating tumors from Coats disease may be difficult but is important.

For those who screen for retinopathy of prematurity (ROP), it is important not to miss aggressive ROP (A-ROP).

“A-ROP is an incredibly important thing to stay on your radar and not to miss because these cases respond probably better to anti-VEGF therapy,” Chan said.

FDA-approved Eylea (aflibercept, Regeneron) allows pediatric patients to be treated on label for this condition.

“I now use aflibercept very often for any pediatric condition that I think needs anti-VEGF because we have an on-label pediatric indication,” Chan said.

ROPER (ROP vs. familial exudative vitreoretinopathy) and aggressive posterior vitreoretinopathy should also be considered in older children who present to the office with an A-ROP-type pattern.

“Again, something to think about because the management is different,” Chan said.

Stickler syndrome should be considered when children present with retinal detachment, particularly if they are high myopes. Family history and genetic testing are important to confirm this diagnosis. Scleral buckling can be used in these cases, and the fellow eye should always be checked because prophylactic laser may be indicated.

Leber congenital amaurosis is important to diagnose with genetic testing for RPE65 mutation because this is now a condition that can be treated.

“It’s pretty amazing what we’re doing now,” Chan said. “Gene therapy has been amazingly impactful for these patients.”

He showed the case of a young patient treated with voretigene neparvovec injection who over 2 years improved to 20/60 in both eyes with a stable visual field.

Not missing a diagnosis is all the more important when treatment is available.

“When I think about pediatric conditions that we don’t want to miss, we also want to tune into what are the conditions that we can now do something about,” Chan said.