# Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases

## TL;DR

This paper reviews the rare eye condition PPACD, focusing on its genetic causes and diagnostic methods to better understand and treat it.

## Contribution

The paper provides a comprehensive review of PPACD's potential genetic contributors and emphasizes multimodal imaging for diagnosis.

## Key findings

- PPACD preserves the foveal region and optic disc while degenerating surrounding retinal areas.
- Multimodal imaging is crucial for diagnosing PPACD and understanding its pathophysiology.
- Comparisons with similar retinal disorders suggest possible genetic correlations in PPACD.

## Abstract

Posterior polar annular choroidal dystrophy (PPACD) is a rare ocular disorder and presents as symmetric degeneration of the retinal pigment epithelium (RPE) and the underlying choriocapillaris, encircling the retinal vascular arcades and optic disc. This condition distinctively preserves the foveal region, optic disc, and the outermost regions of the retina. Despite its distinct clinical presentation, due to the infrequency of its occurrence and the limited number of reported cases, the pathophysiology, and the genetic foundations of PPACD are still largely uncharted. This review aims to bridge this knowledge gap by investigating potential genetic contributors to PPACD, assessing current findings, and identifying genes that warrant further study. Emphasis is also placed on the crucial role of multimodal imaging in diagnosing PPACD, highlighting its importance in understanding disease pathophysiology. By analyzing existing case reports and drawing comparisons with similar retinal disorders, this paper endeavors to delineate the possible genetic correlations in PPACD, providing a foundation for future genetic research and the development of targeted diagnostic strategies.