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.

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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
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article

Ophthalmological phenotype associated with biallelic CPAMD8 variants: first report in Mexican patients

Juan Carlos Zenteno, David Apam-Garduño, Carolina Prado-Larrea, Vianney Cortés-González et al.
Ophthalmic Genetics
Glaucoma and retinal disorders
article

Ophthalmological phenotype associated with biallelic CPAMD8 variants: first report in Mexican patients

Juan Carlos Zenteno, David Apam-Garduño, Carolina Prado-Larrea, Vianney Cortés-González, Cristina Villanueva-Mendoza
article en

Abstract

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.

Ophthalmic Genetics
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)
Good health and well-being
Openalex Percentile: Top 22%
Glaucoma and retinal disorders
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Ophthalmological phenotype associated with biallelic <i>CPAMD8</i> variants: first report in Mexican patients — Juan Carlos Zenteno, David Apam-Garduño, et al. · Ophthalmic Genetics (2026) | TGRS Research Map | TGRS