A DOUBLE HYPERAUTOFLUORESCENT RING IN A 33-YEAR-OLD-FEMALE PATIENT

Mariana M da Palma; Molly Marra; Mark E Pennesi

doi:10.1097/ICB.0000000000001337

A DOUBLE HYPERAUTOFLUORESCENT RING IN A 33-YEAR-OLD-FEMALE PATIENT

Retin Cases Brief Rep. 2023 Jun 1;17(4S):S15-S18. doi: 10.1097/ICB.0000000000001337.

Authors

Mariana M da Palma^{1

2}, Molly Marra¹, Mark E Pennesi¹

Affiliations

¹ Department of Ophthalmology, Casey Eye Institute, Oregon Health and Science University, Portland, Oregon; and.
² Department of Ophthalmology and Visual Science, Federal University of São Paulo, São Paulo, Brazil.

Abstract

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 who underwent best-corrected visual acuity, slit-lamp exam, fundus examination, autofluorescence, optical coherence tomography, kinetic perimetry, and full-field electroretinography. Genetic testing was performed via next-generation sequencing.

Results: A 33-year-old female patient presented with mild nyctalopia, but normal rod function measured by electroretinogram and foveoschisis on optical coherence tomography. 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.

Conclusion: Enhanced S-cone syndrome may present without the pathognomonic findings of decreased rod function on electroretinogram, suggesting the importance of genetic testing in retinal diseases for diagnosis.

Publication types

Case Reports

MeSH terms

Electroretinography
Eye Diseases, Hereditary* / diagnosis
Female
Humans
Mutation
Retinal Degeneration* / diagnosis
Tomography, Optical Coherence
Vision Disorders / diagnosis

Supplementary concepts

Enhanced S-Cone Syndrome