EPOS

European Paediatric Ophthalmological Society

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COHEN Syndrome - a possible differential diagnosis in retarded children with high myopia

Moser Elisabeth, Muellner-Eidenboeck Andrea, Frisch Herwig, Al-Taji Eva
¹Department of Ophthalmology,University of Vienna, Medical School, ²Department of Paediatrics, Endocrinology, University of Vienna, Medical School, ³Department of Paediatrics,3rd School of Medicine, Charles University Prague

Introduction: COHEN Syndrome(COH1)was first described in 1973 by Michael Cohen et al.Clinical signs are variable and include mental retardation, dysmorphic signs as typical facial features, narrow hands and feet, as well as high myopia and retinochoroidal dystrophy. The syndrome seems to be overrepresented in Finland, where Norio et al.mapped the gene to the long arm of chromosome 8. Horn et al.reported a family with a similar phenotype where the responsible gene overlapped the refined gene region for COH1 and hypothesized that these syndromes might be allelic. Aim of the study: To classify patients with distinct ophthalmological findings which will allow in cooperation with other specialists assignment to a well-known syndrome Methods: In the last two years we observed 13 patients including two pairs of siblings and four children from consanguineous families in whom the high myopia and pigmentary fundus changes combined with characteristic facial features made us suppose the diagnosis of COH1.All patients had mental retardation of unknown cause. Thorough paediatric examination was performed and blood sampled for serum chemistry, hormone analysis and molecular genetic analysis. Results: 12/13 patients had the typical combination if high progressive myopia, pigmentary fundus changes and visual deterioration starting at age 6-7, in 5 cases we could confirm the diagnosis by an extinguished ERG.We found no cataracts or other pathological signs of the anterior segment. Paediatric examination revealed the typical dysmorphic features in all patients and a variability of other clinical signs which are characteristic for COH1.Molecular genetic analysis is in progress. Conclusion: We have demonstrated COH1 as a possible diagnosis in children with pronounced and progressive myopia, pigmentary fundus changes and typical clinical features. We stress the importance of the ophthalmologist in initiating a comprehensive workup for rare syndromes.