# Atypical Presentation Revealing Sorsby Macular Dystrophy: A Case Report

## TL;DR

A case of Sorsby macular dystrophy was misdiagnosed due to its unusual presentation, highlighting the need for accurate diagnosis.

## Contribution

The paper presents a unique case of Sorsby macular dystrophy with atypical symptoms leading to misdiagnosis.

## Key findings

- The patient showed progressive unilateral visual acuity loss, initially mistaken for an infectious or inflammatory condition.
- The case highlights the importance of considering genetic disorders in differential diagnoses of atypical retinal presentations.

## Abstract

Sorsby macular dystrophy is an autosomal dominant disorder secondary to heterozygous mutations in the TIMP3 gene in 22q12. It begins with fine, pale, drusen-like deposits or confluent, faint yellow material or sheets beneath the retinal pigment epithelium, but it eventually progresses to either geographic atrophy with pigmentary clumps or scars due to the choroidal neovascular membrane around the fourth decade of life. We describe a patient who presented with a progressive loss of unilateral visual acuity, wrongly suggesting an infectious or inflammatory disease.