Do All Pediatric Retinal Diagnoses Need to Be Made Right Away?

“I devised a retinal fear meter that’s going to allow us to kind of triage which diagnosis we can sleep on and which ones we can’t, along with some clinical pearls,” said Yoshihiro Yonekawa, MD, during his talk at Friday’s Pediatric Subspecialty Day. “Do all retinal diagnoses have to be made right this second?”

In his presentation, Dr. Yonekawa focused on situations in which retinal findings are the first sign of disease, rather than systemic conditions that have retinal findings. 

His meter ranged from milder conditions (green zone) to severe conditions (red zone) that require immediate attention. The latter are usually vision- or life-threatening and tend to be progressive and treatable.

Green safe zone:

• Choroidal neovascularization. Kids are different from adults, he explained. In young patients, this condition is usually idiopathic or associated with retinal dystrophies and trauma. Since the diagnosis is often delayed, the prognosis tends to be poor, but it’s treatable. You may be able to catch this condition earlier—and have a better prognosis—in older kids, who tend to be more astute and verbal.

Yellow to orange zone:

• Macular hole. “When in doubt, get an OCT to look at the macula,” he said, explaining that the hole is often related to trauma. In children, macular holes sometimes close spontaneously. If they don’t, and we are aware of them, we can fix them, he added. Prognosis varies depending on the extent of photoreceptor damage.
• Coats disease. Widefield angiography is particularly useful in assessing Coats disease. The presentation in these patients can range from mild (with normal-looking retinas) to serious (with total exudative detachment). In the past, eyes with serious disease were often enucleated, but we can usually fix them now, Dr. Yonekawa said. You want to catch the disease by the stage that exudates are threatening to encroach on the fovea, but haven’t reached it yet, he said. At that point, “vision is 20/20, and you want to keep it 20/20” by treating the peripheral pathology.
• Familial exudative vitreoretinopathy. These kids are usually underdiagnosed because they don’t have symptoms. Dr. Yonekawa’s tip: Look for lots of blood vessels coming from the optic nerve (supernumerary retinal vasculature). Consider examining family members of these patients, he added, because sometimes they also go undiagnosed. Some patients also have genetic mutations associated with systemic conditions (such as premature osteoporosis, neurodevelopmental delay, and others).
• Sickle cell retinopathy. The key here is the genotype: Kids with one genotype (SS disease) have eyes that may be OK, but they don’t do well systemically, while others (SC disease and beta thalassemia) may have severe retinopathy. Pay attention to the genotype and use widefield imaging, fluorescein angiography when possible. Dr. Yonekawa’s pearl: A thinner temporal half of the macula in patients with severe retinopathy is a signal for a more detailed peripheral exam.
• Retinal detachment. In kids, these usually present as macula-off detachments; are chronic; and, unlike in adults, are not acutely progressive. The detachment is usually the result of myopia or trauma. Although vitrectomy is a popular treatment for adults, Dr. Yonekawa recommends treating kids with scleral buckles. Young patients can have good visual potential but it might be more problematic for kids with self-injurious behavior or syndromic conditions.

Darker orange zone: Don’t miss conditions that could be life-threatening.

• Morning glory disc anomaly. This may be a sign of moyamoya disease, which can lead to strokes. These patients should be referred to a neurologist.
• Capillary hemangiomas. These hemangiomas can be associated with von Hippel–Lindau syndrome, a condition that can lead to tumors throughout body. Dr. Yonekawa’s pearl: If you see “squiggly vessels,” follow them to the periphery to possibly find tumors.

Red zone: These aren't just diagnoses that you don't want to miss--they are diagnoses that you must not miss.

• Exogenous endophthalmitis: He warned that this is probably the only true emergency. These eyes require immediate antibiotics.
• Type 1 retinopathy of prematurity: “Your diagnostic acumen here may determine whether this eye is going to be 20/20 or no light perception,” he said.
• There are many possible causes for a leukoria-like picture. However, “Your reaction when you see this in your clinic—as it is for me—should be holy shoot!” Unless proven otherwise, it is retinoblastoma, he warned.

He acknowledged that this is not an exhaustive list but is a good introduction to the range of possible diagnoses. The red zone diseases are the ones definitely not to miss. –Kanaga Rajan

Financial disclosures: Dr. Yonekawa: Alcon Laboratories, Inc.: C; Alimera Sciences, Inc.: C; Allergan: C; Genentech: C; Pykus: C; Tarsus: C; Versant Health: C

Disclosure key: C = Consultant/Advisor; E = Employee; EE = Employee, executive role; EO = Owner of company; I = Independent contractor; L = Lecture fees/Speakers bureau; P = Patents/Royalty; PS = Equity/Stock holder, private corporation; S = Grant support; SO = Stock options, public or private corporation; US = Equity/Stock holder, public corporation For definitions of each category, see aao.org/eyenet/disclosures.

Read more news about Subspecialty Day and AAO 2022.