Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, poorly understood chorioretinal disorder characterised by perivenous atrophy and pigment clumping. This systematic review aimed to synthesise the current evidence on its clinical features, diagnostic modalities, and management strategies, while identifying knowledge gaps and opportunities for future consensus guidelines. A systematic review was conducted following PRISMA guidelines and registered in PROSPERO (CRD42022346753). Nine databases were searched for English-language publications between January 1980 and April 2025. Eligible studies included case reports, case series, reviews, and commentaries reporting clinical, diagnostic, or therapeutic data on PPRCA. Data were extracted by independent reviewers, risk of bias was assessed with the CASP checklist, and findings were synthesised thematically and descriptively. Seventy-two studies reporting on 162 patients were included. The mean age was 38 years, with a slight female predominance (54%). Ophthalmoscopic findings-most notably chorioretinal atrophy (42%) and pigment clumping (35%)-were the most frequently described features. Imaging techniques such as ultra-wide field fundus photography and fluorescein angiography were widely used but lacked diagnostic uniformity. Electroretinography revealed variable functional deficits. Management was largely supportive, targeting associated complications (e.g., macular oedema, glaucoma), with limited long-term follow-up data. PPRCA remains a clinically heterogeneous and under-recognised condition without standardised diagnostic or therapeutic protocols. This review highlights the need for consensus diagnostic criteria, longitudinal registries, and collaborative studies to improve clinical care and inform future research into its pathogenesis and management.

BACKGROUND Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare and poorly understood retinopathy, characterized by retinochoroidal atrophy and pigmentation along the retinal veins. Its etiology remains unclear; proposed mechanisms include inflammatory, developmental, and genetic factors. Here, we describe a 56-year-old woman who was diagnosed with PPRCA via multimodal imaging. CASE REPORT A 56-year-old Chinese woman presented with a 3-day history of vision deterioration in her left eye. Dilated fundus examination revealed bilateral pigment clumps and retinochoroidal atrophy along the retinal veins, which was more pronounced and displayed macular involvement in the left eye. Ultra-wide fundus fluorescein angiography showed hyperfluorescence consistent with retinal pigment epithelium degeneration, whereas fundus autofluorescence revealed hypoautofluorescent patches and hyperautofluorescence at lesion borders. Optical coherence tomography angiography demonstrated areas of flow void beneath the retinal pigment epithelium-Bruch membrane layer, suggestive of choriocapillaris hypoperfusion that corresponded with fundus autofluorescence findings. Spectral-domain optical coherence tomography showed absence of the myoid zone, ellipsoid zone, and interdigitation zone in the macular region, along with partial preservation of the retinal pigment epithelium. Based on these findings, a diagnosis of bilateral PPRCA was made. The patient was advised to undergo routine follow-up. CONCLUSIONS Multimodal imaging is essential to confirm the diagnosis of PPRCA. Optical coherence tomography angiography provides valuable insight into disease pathogenesis by demonstrating primary choriocapillaris involvement. Further research into genetic factors and potential therapeutic targets, including vascular endothelial growth factor inhibitors, is warranted to improve understanding and management of this condition.

Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, typically non-progressive retinal disorder characterized by perivenous atrophy of the retinal pigment epithelium and choriocapillaris, with macular involvement being uncommon. This report aims to highlight a novel manifestation of asymmetrical macular thinning in PPRCA. A 40-year-old man presented with bilateral, gradual visual decline. Fundus examination revealed perivenous retinochoroidal atrophy with pigmentation along the arcades in both eyes and notable macular changes. Spectral-domain optical coherence tomography (OCT) demonstrated bilateral central retinal thinning, most marked in the temporal parafovea, with attenuation of both inner and outer retinal layers and preservation of the foveal depression. Fundus autofluorescence showed corresponding areas of hypoautofluorescence, while systemic evaluation excluded infectious and inflammatory causes. This case, to our knowledge, represents the first description of asymmetrical macular thinning in PPRCA, broadening the recognized spectrum of its macular involvement and emphasizing the diagnostic value of OCT in differentiating PPRCA from inflammatory and inherited retinal disorders.

To explore the clinical phenotype, genotype and genetic characteristics for a patient with unilateral Pigmented paravenous retinochoroidal atrophy (PPRCA) and Retinitis pigmentosa (RP) in the contralateral eye. A PPRCA pedigree which had presented at the Department of Medical Genetics of the Eye Hospital of Wenzhou Medical University in August 2021 was selected as the study subject. Clinical data of the family members were collected. The proband underwent wide-field fundus photography, wide-field autofluorescence, full-field electroretinogram (ff-ERG), visual field testing, optical coherence tomography (OCT), and fundus angiography (FFA and ICGA). Blood samples were collected from the proband and family members (parents and two sisters), and buccal mucosal cells were collected from the proband's daughter, and genomic DNA was extracted for each family member. Whole exome sequencing (WES) was performed on the proband. Candidate variants were verified using Sanger sequencing and pathogenicity analysis. This study was approved by the Medical Ethics Committee of the Eye Hospital of Wenzhou Medical University (Ethics No. 2019-134). Wide-angle fundus photography and autofluorescence showed that the right eye was consistent with PPRCA and the left eye with RP. OCT showed that the outer layer of the fovea was intact in the right eye, while disorganized outer segment was found in the fovea of the left eye, and outer segment atrophies outside the fovea were found in both eyes. The amplitudes of ff-ERG decreased significantly in both eyes, and the amplitudes in right eye were slightly higher than those of the left eye. Visual field showed a paracentral arcuate scotoma in the right eye and severe centripetal contraction in the left eye. FFA showed hyperfluorescence in the retinal vein distribution area caused by atrophy of retinal pigment epithelium of the right eye and hypofluorescence related to bone spicule pigmentation, in addition with mottled hypofluorescence of choroid in the left eye. ICGA showed mild paravenous retinochroidal atrophy of the right eye and diffuse choroid capillaries atrophy in the middle and peripheral area of the left eye. WES revealed that the proband had a heterozygous c.2234C>T (p.Thr745Met) variant of the CRB1 gene. Sanger sequencing confirmed that the proband and family members except the father of the proband carried the same CRB1 gene variant. Based on the criteria and guidelines for the classification of genetic variation and related consensus from the American College of Medical Genetics and Genomics (ACMG), this variant was classified as pathogenic (PM3_VeryStrong+PM1+PM2_Supporting +PP3). The heterozygous c.2234C>T (p.Thr745Met) variant of the CRB1 gene may underlay the unilateral PPRCA with contralateral eye RP in this proband. Above findings have enriched the mutational spectrum of the CRB1 gene.