Posterior polar annular choroidal dystrophy-like phenotype with foveal involvement

Fig. 1. A 65-year-old Asian Indian female presented with bilateral, progressive vision loss associated with nyctalopia for 2 years. The best-corrected visual acuity was 20/80 in the right eye and 20/120 in the left eye. Anterior segment examination revealed bilateral posterior subcapsular cataract. Fundus examination showed bilaterally symmetric peripapillary retinal pigment epithelium (RPE) and choriocapillaris atrophy extending along the vascular arcades in an annular configuration. The macula showed an approximately two-disc diameter area of central atrophy without clinical or imaging features suggestive of fibrosis or inactive choroidal neovascularization, consistent with foveal atrophy rather than a fibrotic scar (a and b). Fundus autofluorescence demonstrated corresponding annular hypoautofluorescence bilaterally (c and d). Spectral-domain optical coherence tomography revealed outer retinal layer loss with choriocapillaris attenuation and dilated choroidal vessels in the right eye and established foveal atrophy in the left eye (e and f).Figure 1: (a and b) Ultra-widefield fundus photographs demonstrating the characteristic bilateral annular peripapillary and periarcade distribution of RPE–choriocapillaris atrophy, which represents the key diagnostic feature of a PPACD-like phenotype; (c and d) fundus autofluorescence showing corresponding annular hypoautofluorescence; (e and f) spectral-domain optical coherence tomography illustrating outer retinal and choriocapillaris loss with associated foveal atrophyBased on the characteristic annular peripapillary and periarcade atrophy with choroidal involvement, the phenotype was considered consistent with a posterior polar annular choroidal dystrophy (PPACD)-like phenotype, rather than classic PPACD, given the presence of established foveal atrophy. Whole-exome sequencing did not identify any pathogenic variants associated with inherited retinal dystrophies. Screening of available first-degree relatives did not reveal similar fundus changes. While the absence of a pathogenic variant does not exclude PPACD, it underscores the need for cautious phenotypic labeling and supports classification based on clinical and imaging features rather than genetic confirmation. PPACD is classically described as a rare choroidal dystrophy characterized by bilateral, symmetric annular RPE and choriocapillaris atrophy surrounding the optic disc and vascular arcades, with relative foveal sparing considered a defining feature.[1] Recent understanding emphasizes that foveal involvement is uncommon and may reflect advanced disease or represent a phenotypic variant rather than the typical form.[2–4] The presence of central foveal atrophy in the present case therefore represents a deviation from the classic description and highlights the spectrum of disease expression. This case illustrates the phenotypic variability of PPACD-like presentations and reinforces the importance of multimodal imaging in accurate characterization. Recognition of foveal involvement is clinically relevant as it may significantly influence visual prognosis and counseling. Data availability The data that support the findings of this study are available from the corresponding author upon reasonable request. All data needed to evaluate the conclusions in the paper are presented in the paper and/or the Supporting Information. Authors' contributions Concepts: Vipin Rana, Definition of intellectual content: Ranjit Goenka, Literature search: Utkarsh Roodkee, Data acquisition: Vipin Rana, Manuscript preparation: Utkarsh Roodkee, Manuscript editing: Amit Nandan Tripathi, Manuscript review: Ranjit Goenka. The manuscript has been read and approved by all the authors. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship: Nil. Conflicts of interest: There are no conflicts of interest.