Marc Figueras-Roca1,2, Vanessa Budi3, Montserrat Morató3, Anna Camós-Carreras3,4, José Esteban Muñoz4,5, Bernardo Sánchez-Dalmau3,4. 1. Institut Clínic d'Oftalmologia (ICOF), Hospital Clínic, Sabino de Arana St. (Casa Maternidad, 2nd floor), 08028, Barcelona, Spain. mafiguer@clinic.cat. 2. August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain. mafiguer@clinic.cat. 3. Institut Clínic d'Oftalmologia (ICOF), Hospital Clínic, Sabino de Arana St. (Casa Maternidad, 2nd floor), 08028, Barcelona, Spain. 4. August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain. 5. Department of Neurology, Hospital Clínic, Barcelona, Spain.
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.
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.
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Authors: V Laugel; C Dalloz; M Durand; F Sauvanaud; U Kristensen; M C Vincent; L Pasquier; S Odent; V Cormier-Daire; B Gener; E S Tobias; J L Tolmie; D Martin-Coignard; V Drouin-Garraud; D Heron; H Journel; E Raffo; J Vigneron; S Lyonnet; V Murday; D Gubser-Mercati; B Funalot; L Brueton; J Sanchez Del Pozo; E Muñoz; A R Gennery; M Salih; M Noruzinia; K Prescott; L Ramos; Z Stark; K Fieggen; B Chabrol; P Sarda; P Edery; A Bloch-Zupan; H Fawcett; D Pham; J M Egly; A R Lehmann; A Sarasin; H Dollfus Journal: Hum Mutat Date: 2010-02 Impact factor: 4.878