Enhanced S-Cone Syndrome Masquerading as TORCH in an Infant and a Toddler

Purpose: To report two cases masquerading as TORCH but eventually diagnosed with Enhanced S-cone Syndrome (ESCS).

Methods: Descriptive case report.

Results: Case 1: A ten-month-old boy presented with high hypermetropia, strabismus and bilateral chorioretinal pigmented scars with a history of cat scratch of his mother during pregnancy. He was treated for suspected toxoplasma retinitis. Choroidal neovascular membranes (CNV) were diagnosed bilaterally and treated with intravitreal bevacizumab. Genetic testing showed homozygote mutation in NR2E3 gene. Case 2: A two-year old girl presented with bilateral high hypermetropia and strabismus. Funduscopy revealed extrafoveal chorioretinal lesions and surrounding subretinal fibrosis. An elevated titer of anti-toxocara IgG antibodies was detected and managed accordingly. LE CNV was diagnosed and treated with intravitreal bevacizumab. Genetic testing disclosed homozygote mutation in NR2E3.

Conclusion: Ocular manifestations in ESCS can be reminiscent to TORCH. CNV may develop with an incidence of 15%. We report the youngest patient with ESCS-associated CNV.