Skip to main content
Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy

Fig. 2

Fundus photography (a, b), infrared (IR) (c, d) and optical coherence tomography (OCT) (E, F) of a male patient (age 78) diagnosed with retinitis pigmentosa (RP). Homozygous EYS variant c.5928-2A>G was detected in this patient using whole-exome sequencing. The electroretinogram displayed cone and rods extinguished responses. Best-corrected visual acuity (BCVA) OD + 1 logMAR and OS hand motion at 1 m. Biomicroscopy of anterior pole: OU pseudophakia. Fundus photography shows a typical RP phenotype (a, b). The optic disk appears pale, vessels are very thin, and there is extensive atrophy of the retinal pigment epithelium and choriocapillaris with bone spicule pigmentations. Preservation of central retinal islet with a perifoveal orange halo. a, b The IR image shows the retinal islet's detail and the scan lines where the OCT was performed (c, d). OCT scans display the bilateral perifoveal retinal islet. The ellipsoid zone is preserved and limits the retinal islet (e, f; arrows)

Back to article page