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.
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.
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.
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, generally nonprogressive disorder. We identify that patients commonly have marked interocular asymmetry both on structural and functional assessment.
Pigmented paravenous chorioretinal atrophy is a rare retinal disorder of uncertain pathogenesis. In this large case series, we highlighted the characteristic clinical features. The absence of family history, the lack of progression in most patients, and the asymmetry of the retinal findings support the contention that pigmented paravenous chorioretinal atrophy is likely an acquired rather than inherited retinal disorder.
*Medical Retina Service, Moorfields Eye Hospital, London, United Kingdom;
†Retina Department, Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan;
‡Institute of Ophthalmology, University College London, Institute of Ophthalmology, University College London, United Kingdom; and
§Ophthalmology Department, School of Medicine, University of California San Francisco, San Francisco, California.
Reprint requests: Michel Michaelides, MD(Res), FRCOphth, Medical Retina Service, Moorfields Eye Hospital, EC1V 2PD, London, United Kingdom; e-mail: firstname.lastname@example.org
Supported by grants from the National Institute for Health Research Biomedical Research Center at Moorfields Eye Hospital National Health Service Foundation Trust and UCL Institute of Ophthalmology (United Kingdom), Fight For Sight (United Kingdom), Moorfields Eye Hospital Special Trustees (United Kingdom), Moorfields Eye Charity (United Kingdom), the Foundation Fighting Blindness (USA), Retinitis Pigmentosa Fighting Blindness (United Kingdom), and Research to Prevent Blindness USA (Unrestricted grant). M. Michaelides is supported by an FFB Career Development Award.
None of the authors has any financial/conflicting interests to disclose.
Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Web site (www.retinajournal.com).