ArticleCase reports in perinatal medicine2024
Novel homozygous mutation in the human
Article in Case reports in perinatal medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objectives: Childhood visual impairment due to congenital malformation leads to severe handicaps and lifelong consequences for the affected child. Congenital anophthalmia remains a rare condition marked by a child born with an empty eye socket. The embryonic plant of the eye occurs approximately on day 22 of intrauterine development and ends within the first trimester of pregnancy. Mutations in the Case presentation: Here, we present a child's case diagnosed with bilateral anophthalmia at 33 weeks of gestation. The newborn was delivered vaginally with a Conclusions: Early and precise sonography is crucial in detecting these conditions on time to prepare postpartum care and avoid delays in optimal clinical treatment for the affected child. This case report aims to raise the scientific community's awareness about this rare genetic syndrome, showing an individualised two-year follow-up program that could help guide physicians and future parents of affected children.
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