Retinitis Pigmentosa (RHO Pro347Leu Mutation) with Intermediate Uveitis

Our patient was referred for asymptomatic bilateral cystoid macular edema (CME) found on a routine eye exam. Initial visual acuity was 20/30 in both eyes with normal intraocular pressure. Posterior segment exam revealed 2+ vitreous cell, vascular sheathing, and low-grade nerve edema. Optical coherence tomography of the macula disclosed symmetric bilateral CME. Autofluorescence demonstrated bilateral symmetric dense hypoautofluorescence of the central macula with surrounding hyperautofluorescence Wide-field fluorescein angiography demonstrated no perifoveal leakage associated with macular edema. Additionally, vasculitis and perivascular hyperfluorescence was present in all three zones in late phases. The patient’s and family’s medical history were noncontributory. Review of system, uveitic serological workup, and neuro-imaging were within normal limits. A genetic panel revealed a heterozygous rhodopsin Pro347Leu pathogenic mutation followed by a full-field electroretinogram demonstrating rod-cone dysfunction with decreased rod responses to <40% and cone responses prolonged with reduced 30-Hz flicker, consistent with retinitis pigmentosa. Given the diagnosis, she was stopped on immunomodulatory therapy and was started on topical dorzolamide with improvement in central macular thickness. Vascular leakage and inflammatory changes have been reported in inherited retinal diseases, most commonly in those with CRB1 mutations. However, this case demonstrated an atypical degree of change on multi-modal imaging in a young asymptomatic patient, which has not been described before in this specific pathogenic rhodopsin mutation.

Presentation Date: 07/20/2023

Issue Date: 07/28/2023