Pigmented Paravenous Chorioretinal Atrophy

PURPOSE: To review and describe in detail the demographics, functional and anatomical characteristics, and clinical course of pigmented paravenous chorioretinal atrophy in a large cohort of adults and children. METHODS: This is a retrospective case series of consecutive patients diagnosed with pigmented paravenous chorioretinal atrophy at a single U.K. referral center from 1974 to 2016. Clinical records, retinal imaging (color fundus photography, fundus autofluorescence, and optical coherence tomography), and electrophysiological assessments were reviewed. RESULTS: Twenty-three patients were identified (13 males and 10 females). The mean age at presentation was 35 years (range 10-67 years). Mean follow-up was 6.7 years (range 0-30 years). There was no family history of similar retinal disease. Thirteen (57%) patients were asymptomatic. Symptoms included photopsia (n = 1.4%), blurred vision (n = 4.17%), peripheral visual field loss (n = 3.13%), and nyctalopia (n = 2.8%). One patient had previous intermediate uveitis. Twenty-one (91%) patients had ≥6/12 in the better seeing eye at final follow-up; visual acuity loss over time was recorded in 2 patients. Color vision was normal in all 14 patients assessed. Paravenous hypoautofluorescence with surrounding increased fundus autofluorescence was characteristically observed. Optical coherence tomography over the retinal changes demonstrated choroidal, retinal pigment epithelium, and outer retinal layer thinning. Peripapillary atrophic changes on fundus photography were evident in 20 (87%) patients. Interocular asymmetry of fundus and electroretinography findings was common. The electroretinography findings showed a similar degree of generalized rod and cone photoreceptor dysfunction in most cases. CONCLUSION: Overall, most patients with pigmented paravenous chorioretinal atrophy maintained stable vision. The lack of other affected family members, slow or absent progression, and interocular asymmetry of the retinal features is suggestive of an acquired rather than inherited retinal disorder, which is generally nonprogressive. We identify that patients commonly have marked interocular asymmetry both on structural and functional assessment.