Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context
This study broadens the molecular spectrum of syndromic A/M with 19 distinct variants identified across 16 different genes. Furthermore, some variants were detected in genes that have been rarely, or not previously, linked to human A/M, thereby highlighting atypical clinical findings and suggesting a possible expansion of the phenotypic spectrum associated with these genes.
Authors
- Mohamed I. Ateya
- Maha M. Eid (ORCID: https://orcid.org/0000-0001-6239-4760)
- Ebtesam Abdalla (ORCID: https://orcid.org/0000-0002-2486-8782)
- Mahmoud Y. Issa (ORCID: https://orcid.org/0000-0002-3899-2821)
- Frederike L. Harms (ORCID: https://orcid.org/0000-0003-2610-0600)
- Ahmed Ezz Elarab
- S. Soliman
- Mostafa Mobarak
- Gehad Elmakkawy
- Ghada M. Elhady (ORCID: https://orcid.org/0000-0001-8510-8050)
- Sara H El-Dessouky
- Wessam E Sharaf-Eldin
- Lova S. Matsa
- Mona M. Aboulghar
- Adel H. Ahmed
- Haissam Aref
- Nahla N. Abdel-Aziz
- Kerstin Kutsche
- Sameh M. Senousy
- Maha S. Zaki
- Dalia S. Zolfokar
- Asmaa E. Abdelmohsen
- Mohamed A. Maher
- Daniel Schorderet
Institutions
- Ain Shams University (EG)
- Cairo University (EG)
- Universität Hamburg (DE)
- University Medical Center Hamburg-Eppendorf (DE)
- National Research Centre (EG)
- École Polytechnique Fédérale de Lausanne (CH)
- Alexandria University (EG)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2026-03-08
- DOI
- https://doi.org/10.1080/13816810.2026.2630987
- Primary Topic
- Ocular Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00