EPOS

European Paediatric Ophthalmological Society

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BILATERAL RETINAL DYSPLASIA, DEVELOPMENTAL DELAY AND AUTISTIC BEHAVIOUR IN TWO BROTHERS. ANOTHER CHALLENGING CASE REPORT.

Campos, S., Sust, R., Diogo, L. 2, Garcia, P. 2, Silva, E. 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 two teenage brothers, born to healthy non-consanguineous parents, with developmental delay, autistic behaviour, stereotypias, bilateral total cataracts and phthysical globes.
During the first months of life, both sibs were submitted to several eye examinations resulting in diagnosis ranging from Coats disease to retinal dysplasia or congenital retinal detachments. They both rapidly developed childhood onset cataracts and subsequently phthisis bulbi.
Their facial features include: long narrow facies, midface hypoplasia, hypotelorism and marked enophthalmus. High palate and significant dental changes are also observed. They both present scoliosis and aracnodactyly. There is no information of hearing deficits.
Full metabolic work-up has been negative (lysosomes, peroxisomes, mitochondriae).
Any diagnostic clues?