Atypical retinitis pigmentosa associated with EYS variants.

PURPOSE: To report an atypical phenotype of autosomal recessive retinitis pigmentosa (RP) associated with variants in the Eyes Shut Homolog (EYS) gene.

METHODS

Case report.

RESULTS

A 53-year-old woman with a prior history of HIV controlled on HAART therapy presented with complaints of long-standing decreased vision and nyctalopia in both eyes. Visual acuity was light perception (LP) and 20/40 in the right and left eye, respectively. Examination disclosed an unremarkable anterior segment of both eyes. Dilated fundus exam revealed clear vitreous media, optic nerve pallor, vascular attenuation, peripheral retinal atrophy, old laser scars, and rare pigment migration bilaterally. In the right eye there was an evident tractional membrane along both arcades and significant subretinal exudation. OCT imaging showed chorioretinal atrophy in both eyes, and significant vitreoretinal traction in the right eye. A hyperautofluorescent ring was noted on fundus autofluorescence (FAF) of the left eye. An inherited retinal dystrophy was suspected, prompting genetic testing to be performed. Panel based testing revealed multiple EYS variants, namely c.2470T > C, c.3250A > C, c.4402G > C, and c.3443+1G > T.

CONCLUSION

Phenotypic heterogeneity of EYS-associated RP can lead to a delay in diagnosis for atypical cases. A prior coats-like response may be considered in asymmetric cases exhibiting significant exudation or tractional bands.