Unilateral retinoblastoma with contralateral isolated choroidal Melanocytosis: Case report of an unexpected presentation

Cassanda C. Brooks, James J. Augsburger, Zélia M. Correa

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Congenital ocular melanocytosis has been shown to be extremely uncommon in studies of numerous infants and children with retinoblastoma and disorders such as retinopathy of prematurity. Case presentation: A 33-month-old Caucasian boy presented with a solid white predominantly endophytic retinoblastoma filling most of the nasal aspect of the fundus and extensive vitreous seeding. Fundus exam of the contralateral eye showed a broad-based flat melanotic area of the choroid extending from the subfoveal region to the ora serrata temporally. The child was treated by enucleation of the retinoblastoma-containing eye (homozygous non-germline RB1 mutation) and is being monitored annually. The patient has been followed for 4 years. Conclusions: This rare presentation of advanced unilateral retinoblastoma and contralateral isolated choroidal melanocytosis in a young child emphasizes the importance of detailed fundus mapping of the non-affected eye and has potential implications due to the increased incidence of uveal melanoma later in life.

Original languageEnglish (US)
Article number251
JournalBMC Ophthalmology
Volume18
Issue number1
DOIs
StatePublished - Sep 17 2018

Keywords

  • Melanoma
  • Ocular Melanocytosis
  • Retinoblastoma
  • Unilateral
  • Uveal

ASJC Scopus subject areas

  • Ophthalmology

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