EPOS

European Paediatric Ophthalmological Society

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BILATERAL CONGENITAL ANOPHTHALMIA WITH CYST ASSOCIATED WITH SEVERE NEURODEGENERATION. A NEW SYNDROME OR ASSOCIATION?

Faria, P.1, Garcia, P. 2, Diogo, L. 2, Quadrado, M.J. 1, Silva, E. 1, Murta, J.N. 1
1. Dept. of Pediatric Ophthalmology, University of Coimbra, Portugal. 2. Dept of Metabolic Diseases, Neurology and Development, Children's Hospital of Coimbra, Portugal

We present a 3 year-old white male, second child of a consanguineous marriage, with bilateral anophthalmia with congenital cysts. The cysts were surgically removed shortly after birth and replaced with solid orbital prosthesis. The child's growth and development were unremarkable until age 14 months. This was followed by rapid progression to spastic tetraparesis, with positive startle, puffy facies, irritability and myoclonic seizures. MRI revealed thinning of the corpus callosum, cortical and subcortical atrophy and periventricular leukomalacia. Full metabolic work-up included a normal karyotype as well as normal results for assays for lysosomal storage diseases, peroxisomal diseases and aminoacidopathies. Analysis of muscle biopsy mitochondrial metabolism revealed a deficit in complexes I and IV.