Marques, Joaõ Pedro MDn, MSc*,†,‡; Simaõ, Jorge MD, MSc*
*Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal
†University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal
‡Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal
Address correspondence and reprint requests to: João Pedro Marques, Centro de Responsabilidade Integrada de Oftalmologia (CRIO), Centro Hospitalar e Universitário de Coimbra (CHUC), Praceta Prof. Mota Pinto, 3000-075 Coimbra, Portugal. E-mail: [email protected].
João Pedro Marques and Jorge Simão contributed equally.
The authors have no conflicts of interest to declare.
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A 37-year-old Caucasian female with consanguineous parents and a brother with nonsyndromic retinitis pigmentosa (nsRP) presented with longstanding nyctalopia. The best-corrected visual acuity was 20/20 in both eyes. Anterior segment examination and fundoscopy were unremarkable. Blue light fundus autofluorescence (FAF) revealed a bilateral and symmetrical double concentric hyperautofluorescent ring (Fig. 1). On spectral domain optical coherence tomography, the retinal structure was preserved inside the inner ring, whereas outer retinal atrophy was observed outside its limits. Genetic testing identified the c.5928-2A>G p.? pathogenic variant in homozygosity in EYS gene.
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FIGURE 1: Double concentric hyperautofluorescent ring in EYS-associated retinitis pigmentosa. Right (A) and left (B) FAF highlights 2 hyperautofluorescent rings, an inner perifoveal ring and an outer ring, located along the vascular arcades and demarcating a diffuse hyperautofluorescent annular surface area. FAF indicates fundus autofluorescence.
Whereas a perifoveal/perimacular ring of hyperautofluores-cence is a common FAF finding across several RP genotypes,1 the presence of a double concentric hyperautofluorescent ring was deemed pathognomonic of NR2E3-associated autosomal-dominant RP.2 We describe for the first time the occurrence of this peculiar FAF phenotype in EYS-associated nsRP, highlighting that FAF alone does not seem to be a reliable method of distinguishing between RP genotypes.
References
1. Lima LH, Cella W, Greenstein VC, et al. Structural assessment of hyperautofluorescent ring in patients with retinitis pigmentosa. Retina. 2009;29:1025–1031.
2. Escher P, Tran HV, Vaclavik V, et al. Double concentric autofluorescence ring in NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2012;53:4754–4764.
