Retinal thinning, reduced visual field sensitivity in Friedreich ataxia

This prospective study found that patients with Friedreich ataxia may have a measurable degree of retinal thinning on OCT and a generalized reduction of sensitivity in visual field testing.

The authors used spectral domain OCT and the Humphrey Field Analyzer to evaluate 10 patients with genetically confirmed Friedreich ataxia and 22 age- and gender-matched controls.

Patients with Friedreich ataxia showed significantly thinner peripapillary retinal nerve fiber layer (RNFL) thickness, average peripapillary retinal thickness and foveal retinal. Furthermore, visual field testing revealed a generalized reduction of sensitivity in the Friedreich ataxia patients.

Visual acuity was significantly correlated with age at onset (P = 0.021) and average RNFL value. There was also a significant correlation between foveal thickness and disease duration, and mean RNFL thickness was significantly correlated with the severity of neurological involvement (P = 0.039).

The authors conclude that progressive, diffuse and asynchronous neurodegeneration limited to the neuroretinal layer may be seen in patients with Friedreich ataxia. They say that additional studies with larger patient cohorts and more advanced OCT techniques may provide further neuro-ophthalmologic insights into these patients.