Purchase this article with an account.
Christoph Friedburg, Julia Hoeges, Susanne Kohl, Birgit Lorenz; Autosomal Recessive Achromatopsia Is Associated With Foveal Changes In Spectral Domain Optical Coherence Tomography And Fundus Autofluorescence. Invest. Ophthalmol. Vis. Sci. 2011;52(14):1024.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
To investigate foveal changes in patients with autosomal recessive achromatopsia.
Optical coherence tomography and fundus autofluorescence (SD-OCT and FAF; Spectralis, Heidelberg Engineering, Germany) were obtained from 10 patients (one aged 79, the remaining aged 6 to 34, median 20 years). Homozygous or compound heterozygous mutations were identified in CNGB3 in 6 patients, and in CNGA3 and GNAT2 in 2 patients, each. Clinical data including visual acuity, color vision and ERG were consistent with the diagnosis of achromatopsia. Ethic committee approval and written informed consent were obtained.
Despite nystagmus, SD-OCT of the fovea was obtained in 9 of 10 patients. Even at young age, 5 patients showed small subfoveal gaps at the level of the connecting cilium of the photoreceptors with a median diameter of 265 µm. Six patients had a more or less distinct ring of increased FAF with a median diameter of 1300 µm surrounding a central region with reduced signal with a median diameter of 300 µm. For the 2 patients with GNAT2 mutations no gaps were detected with either SD-OCT or FAF - instead, the SD-OCT of one of these patients showed an enhanced signal in the corresponding layer.
Achromatopsia has recently been suggested to show signs of progressive cone disease although stable regarding rod function. Small foveal gaps as found in our study appear to be a frequent feature in cases with mutations in CNGB3 and CNGA3, thus confirming OCT-findings by Thiadens et al. (2010, IOVS 51:5952-7), but possibly not in mutations of GNAT2.
This PDF is available to Subscribers Only