Pigmented paravenous retinochoroidal atrophy and retinitis pigmentosa-like phenotype in the same patient: A case series.

Abstract

Concomitant manifestation of PPRCA in one eye and RP-like retinopathy in the fellow eye is a rare clinical entity, with limited published descriptions to date. The aim of this study is to describe comprehensive clinical evaluations and long-term follow-up of three patients affected by this clinical picture. Three patients with concurrent PPRCA and RP-like retinopathy were prospectively re-evaluated and comprehensive assessments were performed. The progression of disease was assessed by comparing best corrected visual acuity (BCVA) and ellipsoid zone (EZ) width with data available from each patient's medical charts and previous SD-OCT scans. Blood samples were collected and tested to rule out autoimmune or infectious ocular diseases, for testing anti-retinal autoantibodies (ARAs) and for genetic analysis. Reduction in BCVA and a progressive concentric loss of the EZ band over time were detected in the eye with RP-like phenotype in all three patients, while in the eye with PPRCA none of the patients showed significant changes in BCVA and only one patient showed a progressive reduction of the EZ width. No clear etiology has been identified. Two or more ARAs subtypes were detected in two out of three patients. PPRCA was demonstrated to be a non-progressive or slowly progressive disease, instead the eye with RP-like phenotype showed a progressive visual impairment, highlighting the importance of shedding light on this condition. Its etiology remains unclear: a genetic trait with different phenotype between the two eyes is conceivable, as well as a potential role of ARAs.