ABSTRACT
PURPOSE: Cockayne syndrome is a rare autosomal recessive disease, also known as a progeria disorder, causing dwarfism, senile appearance and multiple systemic affections. Ophthalmic abnormalities are frequent, for example, in the forms of pigmentary retinopathy with low visual acuity. We present two genetic-confirmed cases with a detailed electrophysiological exploration of their retinal findings. METHODS: Complete ophthalmic exploration is undertaken, including full-field electroretinogram under ISCEV guidelines and multifocal electroretinogram (RETI-scan science, Roland-Consult, Germany), ultra-wide-field retinography and autofluorescence (Optomap, Optos PLC, Dunfermline, Scotland, UK) and macular and retinal nerve fibre layer optical coherence tomography (Cirrus, Carl-Zeiss Meditec, Inc, Dublin, CA). RESULTS: Both cases presented with CSA/ERCC8 mutation and low visual acuity. Diffuse pigmentary retinopathy with macular atrophy was found in ultra-wide-field retinography and autofluorescence. Electrophysiological testing reported wide retinal dysfunction on both cone and rod system with macular involvement. CONCLUSIONS: Pigmentary retinopathy in CS could translate a wide dysfunction of the retina with major affection of external retinal layers of both cone and rod cells. Macular implication is also present and could explain progressive vision loss in such cases.
Subject(s)
Cockayne Syndrome/physiopathology , Retina/physiopathology , Retinitis Pigmentosa/physiopathology , Adult , Cockayne Syndrome/genetics , DNA Repair Enzymes/genetics , Diagnostic Techniques, Ophthalmological , Electroretinography/methods , Female , Humans , Male , Mutation , Tomography, Optical Coherence/methods , Transcription Factors/genetics , Vision Disorders/physiopathology , Visual Acuity/physiologyABSTRACT
Objective: In Parkinson's disease (PD), effects on behavior and cognition of levodopa/carbidopa intestinal gel (LCIG) and subthalamic stimulation (STN-DBS) and their practical consequences remain controversial. This study was designed to analyze the possible effects of these therapies on cognition and behavior after 1 year follow-up. Methods: This was an open-label, nonrandomized prospective study for pre- and postintervention analyses. Twenty-four patients were considered eligible to be candidates for complex therapies such as STN-DBS or LCIG; 23 patients treated with standard medication were included as controls. Several cognitive, behavioral, and motor scales were administered before and at 6 and 12 months after the intervention. Results: Patients treated with LCIG experienced significant improvement in specific neuropsychological functions when compared with patients receiving STN-DBS and conventional medical treatment after 1 year from the onset of the intervention. In this study, no significant cognitive or behavioral changes occurred in patients treated with subthalamic stimulation when compared to patients receiving conventional medical treatment at 1 year follow-up. Conclusions: Patients treated with LCIG may significantly improve some specific neuropsychological functions when compared with patients receiving STN-DBS and with patients receiving conventional medical treatment after 1 year from the intervention; there are not significant cognitive or behavioral changes in patients treated with STN-DBS when compared to PD patients receiving conventional medical treatment after 1 year from the intervention. The outcomes showed in the study can help to the selection of the appropriate candidates for STN-DBS and LCIG.
