Ophthalmological phenotype associated with biallelic <i>CPAMD8</i> variants: first report in Mexican patients
INTRODUCTION: gene have been shown to result in abnormalities such as cataract, iris hypoplasia, and ectopia lentis. METHODS: gene were identified. Their phenotype included bilateral iris hypoplasia, ectropion uvea, zonular anomalies, and secondary childhood glaucoma. RESULTS: ):c.4478T>A-in the second patient. DISCUSSION: should be recommended in patients with anterior segment dysgenesis or secondary childhood glaucoma associated with non acquired ocular anomalies as the aforementioned alterations.
Authors
- Juan Carlos Zenteno
- David Apam-Garduño
- Carolina Prado-Larrea
- Vianney Cortés-González
- Cristina Villanueva-Mendoza
Institutions
- Universidad Autónoma Monterrey (CR)
- Institute of Ophthalmology (MX)
- Asociacion Para Evitar la Ceguera en México Hospital Dr. Luis Sánchez Bulnes (MX)
- Instituto Politécnico Nacional (MX)
- Universidad Nacional Autónoma de México (MX)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2026-03-31
- DOI
- https://doi.org/10.1080/13816810.2026.2651181
- Primary Topic
- Glaucoma and retinal disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00