Atypical Presentation Revealing Sorsby Macular Dystrophy: A Case Report

Area of Science:

• Ophthalmology
• Genetics
• Retinal Diseases

Background:

• Sorsby macular dystrophy is an autosomal dominant inherited retinal disorder.
• It is caused by heterozygous mutations in the TIMP3 gene located on chromosome 22q12.
• The condition affects the retinal pigment epithelium and choroid.

Observation:

• The disease presents with drusen-like deposits or subretinal material.
• It progresses to geographic atrophy or scarring from choroidal neovascularization.
• A patient experienced unilateral visual loss, initially misdiagnosed as infectious or inflammatory.

Findings:

• The patient's presentation mimicked infectious or inflammatory eye conditions.
• Progressive unilateral visual acuity loss was the primary symptom.
• Accurate diagnosis of Sorsby macular dystrophy is crucial despite atypical initial presentation.

Implications:

• This case underscores the importance of considering Sorsby macular dystrophy in patients with unexplained unilateral vision loss.
• Early and accurate diagnosis can guide appropriate management and genetic counseling.
• Understanding the varied clinical presentations is vital for ophthalmologists managing retinal dystrophies.