Choroidal infarction following ophthalmic artery chemotherapy

Kelley J. Bohm, Y. Pierre Gobin, Jasmine H. Francis, Gabrielle McInerney, Anahita Dabo-Trubelja, Paul H. Dalecki, Brian P. Marr, David H. Abramson

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Methylenetetrahydrofolate reductase (MTHFR) genetic mutations and intra-procedural inhaled nitrous oxide (N2O) independently increase blood levels of homocysteine, a compound associated with thrombosis. Patients with MTHFR mutations who also receive N2O during ophthalmic artery chemotherapy (OAC) for retinoblastoma may have a heightened thrombotic risk. Case presentations: Single-center retrospective review of pediatric patients with advanced retinoblastoma who received OAC and developed choroidal infarcts. Four retinoblastoma patients with advanced intraocular disease (2 males, 2 females: 13-58 months) experienced choroidal infarcts within the one-month period after OAC, in which procedural N2O induction was used (duration between 21 and 58 min). All 4 patients had MTHFR (chromosome 1p, position 36.22) genetic abnormalities: one was homozygous for the C677T mutation, one was C677T heterozygous, one was A1298C heterozygous, and one was heterozygous for both C677T and A1298C. In all 4 patients, indirect ophthalmoscopy and fundus photography showed marked disturbance of the retinal pigment epithelium and optical coherence tomography (OCT) confirmed thinning of the choroid. Follow-up time ranged from 15 to 46 months (median 21 months). Conclusions: Choroidal infarction in eyes treated with OAC developed in children who were both deficient in at least one working allele of the MTHFR gene (heterozygous or homozygous) and received N2O induction during OAC.

Original languageEnglish (US)
Article number16
JournalInternational Journal of Retina and Vitreous
Volume4
Issue number1
DOIs
StatePublished - 2018
Externally publishedYes

Keywords

  • Choroidal infarction
  • MTHFR
  • Nitrous oxide
  • Ophthalmic artery chemotherapy
  • Retinoblastoma

ASJC Scopus subject areas

  • Ophthalmology

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