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April 24, 2026GenesOpen Access

A Rare Case of Childhood Glaucoma Resulting from Anterior Segment Dysgenesis Associated with a Homozygous Mutation in the CPAMD8 Gene

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Authors

NVNevyana Veleva-KrastevaAlexandrovska HospitalKGKiril GenovAlexandrovska HospitalKKKunka KamenarovaMedical University of Sofia

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Implication

Case report details a rare childhood glaucoma linked to anterior segment dysgenesis, indicating genetic factors in eye conditions.

Key Points

  • To present a rare case of childhood glaucoma resulting from a genetic mutation associated with anterior segment dysgenesis.
  • Case report of an infant with glaucoma due to anterior segment dysgenesis.
  • Identification of a homozygous mutation c.1881delG, p.(Arg627Serfs*6) in the CPAMD8 gene.
  • Infantile glaucoma diagnosed with associated elevated intraocular pressure and optic nerve damage.
  • Homozygous mutation identified as contributing factor leading to loss of function in the CPAMD8 gene.

Cite This Study

Veleva-Krasteva et al. (2026) studied this question.

synapsesocial.com/papers/69eb0cb2553a5433e34b5ab0https://doi.org/10.3390/genes17040494
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis2025 · 1 citations
  2. 2Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review2025 · 2 citations
  3. 3Ophthalmological phenotype associated with biallelic CPAMD8 variants: first report in Mexican patients2026 · 1 citations
  4. 4Childhood Glaucoma2025 · 2 citations
  5. 5Spontaneously arrested primary congenital glaucoma2026