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A double hyperautofluorescent ring in a 33-year-old-female patient.

PURPOSE
To describe the clinical phenotype and molecular diagnosis of a patient with atypical presentation of Enhanced S-cone Syndrome.


METHODS
This is a case report of a patient that underwent best-corrected visual acuity, slit-lamp exam, fundus exam, autofluorescence, optical coherence tomography, kinetic perimetry, full-field electroretinography. Genetic testing was performed via next-generation sequencing.


RESULTS
A 33-years-old female patient presented with mild nyctalopia but normal rod function measured by electroretinogram and foveoschisis on OCT. She also presented a double hyperautofluorescent ring on autofluorescence. Genetic testing found a pathogenic variant c.925C>G (p.Arg309Gly) and a likely pathogenic variant c.299C>T (p.Arg77Trp) in NR2E3 gene.


DISCUSSION
Enhanced S-cone Syndrome may present without the pathognomonic findings of decreased rod function on ERG, suggesting the importance of genetic testing in retinal diseases for diagnosis.