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Peer-reviewedCC BY-NC-ND 4.0American Journal of Ophthalmology Case Reports

Changes in expression of DNA-methyltransferase in neovascular age-related macular degeneration: Anti-VEGF response or disease severity?

  • Pedro Camacho1,2
  • Edna Ribeiro1
  • Bruno Pereira1,3,2
  • João Nascimento4,3
  • Paulo Caldeira Rosa3
  • José Henriques3
  • Sandra Barrão5
  • João Afonso6
  • Mariana Delgadinho1
  • Catarina Ginete1
  • Miguel Brito1
  • Diogo Cabral3,7
7 affiliations
  1. 1H&TRC- Health & Technology Research Center, ESSL- Escola Superior de Saúde de Lisboa, Universidade Politécnica de Lisboa, Portugal
  2. 2iNOVA4Health, NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Lisboa, Portugal
  3. 3Instituto de Retina de Lisboa, Lisbon, Portugal
  4. 4Hospital Beatriz Ângelo, Lisbon, 2674-514, Portugal
  5. 5Ophthalmology Department, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
  6. 6ITI / LARSyS, Instituto Superior Técnico, Universidade de Lisboa, Portugal
  7. 7Unidade Local de Saúde Almada Seixal, Almada, Portugal
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Abstract

Purpose: Recent studies suggest distinct patterns of DNA methyltransferase (DNMT) expression across different stages of age-related macular degeneration (AMD). However, whether these variations can be modulated by conventional therapeutic approaches remains unexplored. This study investigates DNMT expression dynamics in two patients with exudative neovascular AMD (nAMD) during the initial months of anti-VEGF treatment.

Observations: Case 1, a female in her 90s was seen for sudden loss of vision secondary to macular hemorrhage. During type 1 macular neovascularization (t1MNV) anti-VEGF treatment, DNMT analysis revealed sustained upregulation of DNMT1 (+116%) and DNMT3b (+179%) while exudative MNV remained presisted.

Case 2, a female in her 70s and asymptomatic subretinal fluid secondary to t1MNV showed a distinct DNMT expression pattern, with a more modest increase in DNMT1 (+28.9%) and DNMT3b (+17.6%) when exudation was resolved.

Conclusions: We hereby report varying DNMTs expression in nAMD patients with different disease manifestations giving new insights into the dynamic nature of epigenetic modifications in response to anti-VEGF treatment.

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Cite

BibTeXRIS
BibTeX
@article{camacho2026changes,
  title = {{Changes in expression of DNA-methyltransferase in neovascular age-related macular degeneration: Anti-VEGF response or disease severity?}},
  author = {Pedro Camacho and Edna Ribeiro and Bruno Pereira and João Nascimento and Paulo Caldeira Rosa and José Henriques and Sandra Barrão and João Afonso and Mariana Delgadinho and Catarina Ginete and Miguel Brito and Diogo Cabral},
  journal = {American Journal of Ophthalmology Case Reports},
  year = {2026},
  month = oct,
  doi = {10.1016/j.ajoc.2026.102681},
  url = {https://doi.org/10.1016/j.ajoc.2026.102681},
  note = {CC BY-NC-ND 4.0},
}
RIS
TY  - JOUR
TI  - Changes in expression of DNA-methyltransferase in neovascular age-related macular degeneration: Anti-VEGF response or disease severity?
AU  - Pedro Camacho
AU  - Edna Ribeiro
AU  - Bruno Pereira
AU  - João Nascimento
AU  - Paulo Caldeira Rosa
AU  - José Henriques
AU  - Sandra Barrão
AU  - João Afonso
AU  - Mariana Delgadinho
AU  - Catarina Ginete
AU  - Miguel Brito
AU  - Diogo Cabral
PY  - 2026
DA  - 2026/10/16
JO  - American Journal of Ophthalmology Case Reports
DO  - 10.1016/j.ajoc.2026.102681
UR  - https://doi.org/10.1016/j.ajoc.2026.102681
AB  - Purpose: Recent studies suggest distinct patterns of DNA methyltransferase (DNMT) expression across different stages of age-related macular degeneration (AMD). However, whether these variations can be modulated by conventional therapeutic approaches remains unexplored. This study investigates DNMT expression dynamics in two patients with exudative neovascular AMD (nAMD) during the initial months of anti-VEGF treatment.  Observations: Case 1, a female in her 90s was seen for sudden loss of vision secondary to macular hemorrhage. During type 1 macular neovascularization (t1MNV) anti-VEGF treatment, DNMT analysis revealed sustained upregulation of DNMT1 (+116%) and DNMT3b (+179%) while exudative MNV remained presisted.  Case 2, a female in her 70s and asymptomatic subretinal fluid secondary to t1MNV showed a distinct DNMT expression pattern, with a more modest increase in DNMT1 (+28.9%) and DNMT3b (+17.6%) when exudation was resolved.  Conclusions: We hereby report varying DNMTs expression in nAMD patients with different disease manifestations giving new insights into the dynamic nature of epigenetic modifications in response to anti-VEGF treatment.
SN  - 2451-9936
ER  -