Syndromic Anophthalmia Associating Multiple Malformations and Irreversible Loss of Vision: A Report of 3 Cases from Niger
DOI:
https://doi.org/10.5281/hra.v2i4.5459Keywords:
anophtalmie, syndromic, polymalformatif, NigerAbstract
RÉSUMÉ
L'anophtalmie est une malformation congénitale caractérisée par l'absence totale de globe oculaire. Cela signifie que la personne atteinte d'anophtalmie ne possède pas d'œil ou de cavité orbitaire. Cette condition peut être unilatérale (un seul œil manquant) ou bilatérale (les deux yeux manquants). C'est une affection rare qui peut être isolée ou associée à d'autres malformations. Nous rapportons une anophtalmie syndromique chez trois nouveaux nés (un garçon et deux filles) vus en consultation ophtalmologique à l’Hôpital National de Niamey. L’anophtalmie était apparente chez tous les enfants. Elle était associée à d’autres malformations parmi lesquelles des malformations faciales (fente labiale, front bombé, une fente palatine, des oreilles positionnés plus bas, un nez large), squelettiques (pieds bots, polydactylie), cardiaques (communication interventriculaire), kystes rénaux et hypoplasie du lobe olfactif. Devant ce tableau polymalformatif, la prise en charge pluridisciplinaire incluait une prise en charge psychologique familiale.
ABSTRACT
Anophthalmia is a congenital malformation characterized by the complete absence of an eyeball. This means that the person with anophthalmia does not have an eye or an orbital cavity. This condition can be unilateral (one eye missing) or bilateral (both eyes missing). It is a rare condition that may be isolated or associated with other malformations. We report syndromic anophthalmia in three newborns (one boy and two girls) seen at the Niamey National Hospital for ophthalmological consultations. Anophthalmia was apparent in all children. It was associated with other malformations including facial malformations (cleft lip, bulging forehead, cleft palate, lower positioned ears, wide nose), skeletal (bottoms, polydactyly), cardiac (tricular interventional communication), renal cysts, and olfactory lobe hypoplasia. In the face of this multifaceted picture, multidisciplinary care included family psychological care.
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