Correspondence

Dh, Abramson; Yp, Gobin; Dunkel, Ira J.; Bp, Marr; Freund, K. Bailey

doi:10.1097/iae.0b013e31822650ab

Cited by 2 publications

(1 citation statement)

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“…This, however, does not explain why the toxicity only affected one portion of the eye, rather than the entire territory fed by the ophthalmic artery. The patients may also have had pre-existing retinal detachments enabling chemotherapy accumulation and choroidal toxicity (though no serous retinal detachments were visualized on examination) [ 16 ], dietary deficiencies (i.e. vitamin B12, a necessary cofactor for the MTHFR pathway), or metabolic derangements.…”

Section: Discussionmentioning

confidence: 99%

Choroidal infarction following ophthalmic artery chemotherapy

et al. 2018

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BackgroundMethylenetetrahydrofolate 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 presentationsSingle-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).ConclusionsChoroidal 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.

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Section: Discussionmentioning

confidence: 99%