Anophthalmia and serious microphthalmia: a summary of the problems associated with antenatal diagnosis and therapeutic refunding in Sub-Saharan Africa

Abstract

Anophthalmia and serious microphthalmia are conditions characterized by the complete lack of the primary optic vesicle or the presence of the rudimentary eye-like structure. These are rare prenatal conditions, yet diagnoses remain a challenge in Black African areas, raising a major concerns surrounding care after birth. This paper reports a case of anophthalmia and serious microphthalmia, the diagnosis of which was not possible despite many ultrasounds undergone by the mother during pregnancy.

Hereditary congenital anophthalmia:3 cases of children of the same family

“…Kouassi [9] also reported a case of bilateral congenital anophthalmia during the syndrome of Patau. So does Diomandé [10] in Bouaké who reported a case of a real congenital anophthalmia associated with severe microphthalmia in a newborn without any other observed clinical abnormalities. In addition, Stoll [11] noted that 90% of anophthalmia had associated malformations.…”

Genes related to inherited microphthalmia and anophthalmia

“…X-linked recessive or X-linked dominant patterns. Congenital eye malformations with higher clinical repercussion include microphthalmia and anophthalmia 1,6 . (cystic microphthalmia), which is thought to be the result of a failure in optic fissure closure [7][8][9][10] .…”

Genes relacionados con microftalmia y anoftalmia hereditarias

“…Las malformaciones oculares de etiología monogénica se transmiten a la descendencia con patrones autosómicos dominantes, autosómicos recesivos, ligados al X recesivos o ligados al X dominantes. Dentro de las malformaciones oculares congénitas con mayor repercusión clínica se encuentran la microftalmia y la anoftalmia 1,6 .…”