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

ABSTRACT

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.

KEYWORDS:

• Enhanced s-cone syndrome
• choroidal neovascular membrane
• TORCH
• retinochoroidal neovascularization

Disclosure statement

No potential conflict of interest was reported by the author(s).

Ethic statement

This case report was conducted adhering to the tenets of the Declaration of Helsinki, after approval of the IRB for review of patient’s data, without need of informed consent.

Additional information

Funding

The author(s) reported that there is no funding associated with the work featured in this article.