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

Achromatopsia (ACH) is a congenital autosomal recessive cone disorder. The puspose is to describe particular SD-OCT macular images in ACH. The study included 6 patients from 3 consanguineous Tunisian families with congenital nystagmus and amblyopia with ACH. All patients had clinical examination with fundus photography, autofluorescence, 100-Hue Color vision and the appearance and thickness of all retinal layers were evaluated by spectral-domain optical coherence tomography (SD-OCT). 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. This feature seems to be characteristic of ACH. SD-OCT correlated to clinic signs help the diagnosis.