ESCRS - POCOR542 - Ocular Manifestations Of Tangier Disease: Rare Reported Case With Comparative Review Of Published Literature

Ocular Manifestations Of Tangier Disease: Rare Reported Case With Comparative Review Of Published Literature

Published 2026 - 44th Congress of the ESCRS

Reference: POCOR542 | Type: Poster | DOI: 10.82333/qy4b-6852

Authors: Dr Muhammad Saad* 1

1Ophthalmology,University Hospital Galway,Galway,Ireland

Purpose

To describe the clinical and multimodal imaging features of ocular involvement in a patient with genetically confirmed Tangier disease presenting in Galway, Ireland, and to contextualize these findings within previously reported international case literature.
 

Setting

Department of Ophthalmology, Galway University Hospital, Galway, Ireland.

Methods

This is a single-patient observational case report.
 
A comprehensive ophthalmic evaluation was performed including:
 
Best-corrected visual acuity (BCVA)
 
Slit-lamp biomicroscopy
 
Intraocular pressure measurement
 
Dilated fundus examination
 
Optical coherence tomography (OCT) of macula and retina
 
Anterior Segment photography
 
Laboratory lipid profile
 
Clinical findings were compared with previously published case reports describing ocular manifestations of Tangier disease.
 

Results

A middle-aged patient presented with:
 
Markedly reduced HDL cholesterol levels
 
Known systemic diagnosis of Tangier disease
 
Bilateral corneal stromal opacification
 
Preserved central visual acuity 
 
No significant macular edema or active inflammatory pathology was observed.
 
Compared to previously reported cases:
 
Corneal involvement remains the most consistent ophthalmic feature.
 

Conclusions

Tangier disease, caused by mutations in the ABCA1 gene leading to severely reduced HDL cholesterol, can manifest with characteristic corneal lipid deposition and occasional retinal changes.
 
Although rare, ophthalmologists should consider Tangier disease in patients presenting with:
 
Bilateral corneal haze
 
Extremely low HDL cholesterol
 
Systemic findings such as enlarged tonsils or neuropathy
 
 
This case expands the global ophthalmic literature and reinforces the importance of multidisciplinary collaboration in diagnosing rare metabolic disorders with ocular manifestations.