SD-OCT contribution in congenital achromatopsia diagnosis (6 patients)

Purpose. - Achromatopsia (ACH) is a congenital autosomal recessive cone disorder. The purpose is to describe particular SD-OCT macular images in ACH. Methods. - The study included 6 patients from 3 consanguineous Tunisian families with congenital bystagmus and ambloypia with ACH. All patients had clinical examination with funds photography, autofluorescence, 100-Hue Color vision and the apperance and thickness of all retinal layers were evaluated by spectral-domain optical coherence tomography (SD-OCT). Results. - All patients had ACH. The feature was loss of inner-and outer-segments (IS/OS) with disruption of the ciliary layer on OCT and an appearance of partial-thickness hole in the outer macular retina. Conclusion. - This feature seems to be characteristics of ACH. SD-OCT correlated to clilnic signs help the diagnosis. (C) 2014 Elsevier Masson SAS. All rights reserved.