EPOS

European Paediatric Ophthalmological Society

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Cranio-ectodermal dysplasia - Sensenbrenner syndrome: A case presentation

FAHAD BADIA, CLAYTON-SMITH JILL, LLOYD CHRIS
¹MANCHESTER ROYAL EYE HOSPITAL, ²SAINT MARY'S HOSPITAL

Background: Cranio-ectodermal dysplasia (CED) is a rare autosomal recessive condition with characteristic craniofacial, skeletal, and ectodermal abnormalities. The ocular features have not been described in all patients as they are of later onset, and the life span in Sensenbrenner syndrome is often short. We present a case of a boy with both ocular and renal involvement. Patient and Methods: A boy presented, soon after birth, from a consanguinous Asian family, with short stature, brachydactyly, and ambiguous genitalia. A diagnosis of Robinow's syndrome was originally suspected based on radiological features. At the age of three years, he was found to have end stage renal failure, asthma, and developmental problems. An ophthalmological evaluation elicited horizontal nystagmus, myopia, and widespread granular abnormality of the retinal pigment epithelium with associated optic disc pallor. These features have previously been described in Sensenbrenner syndrome. No mutation was found within the Robinow gene. The electroretingram was extinguished in both light and dark adapted states. Conclusion: Retinal dystrophy and renal involvement are linked together in amny different genetic syndromes. Sensenbrenner syndrome is distinguished by the presence of ectodermal features. However, the gene remains to be elucidated.