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Background: Congenital diseases are sometimes incompatible with life. Others are, but sometimes at the cost of suffering for the child and family. These abnormalities often have a rich symptomatology and interest several specialties. Ocular signs rarely help in prenatal diagnosis. After birth, the ophthalmologist may contribute to early diagnosis of these diseases generally serious.
Objective: To identify ophthalmological signs of some congenital diseases.
Design: A descriptive and transversal study.
Subjects: Four children were seen between January 2012 and December 2014 for ophthalmological damages due to congenital disease.
Results: Ophthalmological lesions observed were: lens subluxation with high myopia due to Marfan's syndrome, retinitis pigmentosa and obesity due to Bardet-Biedl's syndrome, cryptophthalmia due to Fraser's syndrome, dermoid cyst in a context of Goldenhar's syndrome.
Conclusion: The ophthalmologist can be the first to move towards the congenital disease diagnosis.