NATURAL HISTORY OF CONGENITAL ACHROMATOPSIA: CLINICAL, FUNCTIONAL AND MORPHOLOGICAL ASPECTS. Carnevale C1, Fragiotta S2, Salvatore S2. 1
Department of Sense Organs UOC B, Policlinico Umberto I, “Sapienza” University of Rome, Viale del Policlinico 155, 00161 Rome, Italy. 2
Department of Ophthalmology, “Sapienza” University of Rome, Polo Pontino, “A.Fiorini” Hospital, Via Firenze 04019 Terracina (LT), Italy.
Purpose: longitudinal evaluation of clinical, functional and morphological features of congenital achromatopsia. Materials and Methods: In a retrospective study we examined 10 Caucasian patients (20 eyes), 6 male and 4 female, with congenital achromatopsia. The mean age ± standard deviation (SD) was 56 ± 7.5 years, all patients were followed for a mean of 20.8 ± 12.21 years. Best Corrected Visual Acuity (BCVA), slit-lamp biomicroscopy of the anterior segment, fundus ophthalmoscopy, electroretinogram (ERG), Optical Coherence tomography (OCT), chromatic tests (Ishihara and OCULUS Heidelberg Anomaloscope) were performed. Results: BCVA at baseline was 1.014 ± 0.18 logMAR, at the end of observation was 0.98 ± 0.18 logMAR. ERG scotopic responses were normal, while the cone responses were reduced or absent. Mean Central Foveal Thickness (CFT) ± SD was 234 µm ± 31.11 at the beginning of the study, compared to 196 µm ± 35.05 at the end of the followup. Conclusion: Our results show that congenital achromatopsia is not a stationary disease but a disorder which shows a slow, progressive course. Keywords: congenital achromatopsia, Optical Coherence Tomography (OCT), retinal dystrophy, Electroretinography (ERG).