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A Novel De Novo Missense Variant in Netrin-1 (NTN1) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly.
Clin Genet
December 2024
Development, Ageing and Disease, UCL Institute of Ophthalmology, London, UK.
Microphthalmia, anophthalmia and coloboma (MAC) comprise a highly heterogeneous spectrum of congenital ocular malformations with an estimated incidence of 1 in 5000 to 1 in 30 000 live births. Although there is likely to be a genetic component in the majority of cases, many remain without a molecular diagnosis. Netrin-1 was previously identified as a mediator of optic fissure closure from transcriptome analyses of chick and zebrafish and was shown to cause ocular coloboma when knocked out in both mouse and zebrafish.
View Article and Find Full Text PDFA Case of Congenital Bilateral Anophthalmia.
Curr Health Sci J
June 2024
King Hamad American Mission Hospital, A'ali 732, Bahrain.
Introduction: Anophthalmia and microphthalmia are orbito-facial developmental disorders characterized by deficient growth and impaired visual capability [1]. These rare disorders may be unilateral or bilateral. Congenital anophthalmia is the complete absence of the eye [2, 3].
View Article and Find Full Text PDFPhenotypic and cytogenetic variability of patau syndrome in Morocco.
Afr Health Sci
December 2023
Department of Genetics, Clinical Research Center, Mohammed VI University Hospital Center of Marrakech, Morocco.
Article Synopsis
- The study aimed to analyze the phenotypic and cytogenetic characteristics of trisomy 13 in a Moroccan population involving 9 diagnosed cases.
- A slight female predominance was observed, with major clinical findings including severe physical and developmental abnormalities such as holoprosencephaly, cleft lip and palate, and congenital heart defects.
- The cytogenetic analysis revealed that most cases had free and homogeneous trisomy 13, which often resulted in early mortality, while one variant, partial trisomy 13 (t(13;18)), had better outcomes with patients surviving longer but still facing significant health issues.
The current alternative for ocular surface and anophthalmic socket reconstruction, cryopreserved umbilical amniotic membrane (cUAM).
Int Ophthalmol
June 2024
University of Health Sciences, Beyoglu Eye Training and Research Hospital, Istanbul, Turkey.
Article Synopsis
- The report explores the effectiveness of cryopreserved umbilical amniotic membrane (cUAM) as a graft for reconstructing the ocular surface in patients with issues like socket contracture, eyelid problems, and conjunctival defects.
- It involved patients receiving cUAM grafts under non-commercial conditions, with success measured in terms of comfort with prosthetic eyes, natural eyelid positioning, and the healing of tissue defects.
- Results showed a high success rate of 83.3%, with cUAM proving to be a promising alternative for ocular repairs due to less donor impact and quicker recovery times.
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