Jornal Internacional de Patologia Oftalmológica

Retinal Nerve Fiber Layer Thickness Analysis with Optical Coherence Tomography in Wolfram Syndrome

Agata Mota, Sofia Fonseca, Carla Sofia Ferreira, Olinda Faria, Sergio Estrela Silva, Manuel Falcao, Susana Penas, Elisete Brandao, Fernando Falcao Reis

Retinal Nerve Fiber Layer Thickness Analysis with Optical Coherence Tomography in Wolfram Syndrome

Purpose: To evaluate the peripapillary retinal nerve fiber layer (RNFL) in Wolfram’s Syndrome (WS) using optical coherence tomography (OCT).

Methods: The peripapillary RNFL of eighteen eyes of nine patients
with the clinical diagnosis of WS were measured using Stratus OCT. The RNFL was determined consecutively three times.

Results: The mean RNFL thickness is inferior to the 99% normal limit given by the instrument´s normative database in all patients. The superior and inferior quadrants were beneath the 99% normal limit in every patient. The nasal quadrant was at the level 1-5% in 37.0% of the measurements and at the level 5-95% in 3.7%. The temporal quadrant was at the level 1-5% in 13.0% of the measurements and at the level 5-95% in 5.5%.

Conclusion: In our series, there is an overall decrease of the RNFL thickness. The nasal and temporal quadrants were the least affected. This is the first time that this characteristic of the disease is described. Understanding the pattern of RNFL damage can be important clinically to differentiate WS from other causes of hereditary optic atrophy that have distinct patterns of RNFL loss. This provides further insight in the lesion pattern and pathophysiology of the disease.