Abstract

RESUMO Retinoblastoma e a neoplasia intraocular maligna mais comum da retina na infância, com alta incidencia nos primeiros dois anos de vida. Descrevemos o primeiro caso na Colombia, de retinoblastoma unilateral em uma paciente de 57 anos, que veio a consulta com glaucoma neovascular avancado. Ao exame, apresentava uma massa intraocular amelanotica esquerda, e precisou ser enucleada. O diagnostico foi confirmado por histopatologia e marcadores tumorais especificos. Foi realizado seguimento por 10 anos, com ressonância magnetica, sem achados de bilateralidade [...]

Highlights

  • Retinoblastomas (OMIM 180200) are malignant retinal tumors frequently affecting children, with an incidence of one per 15,000 to 20,000 live births.(1) This malignancy originates from mutations of the retinoblastoma or RB1 gene, located in the 13q14 chromosomal region, which are highly penetrant and show a dominant autosomal pattern

  • Retinoblastomas are the most common primary intraocular malignancy of childhood, with a high incidence in the first 2 years of life. This is the report of the first unilateral retinoblastoma case in a 57-year-old Colombian female, who presented to consultation with an advanced neovascular glaucoma in the left eye

  • The initial diagnosis was peripheral intraocular tumor associated to bullous retinal detachment, vitreous hemorrhage, and neovascular glaucoma

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Summary

Introduction

Retinoblastomas (OMIM 180200) are malignant retinal tumors frequently affecting children, with an incidence of one per 15,000 to 20,000 live births.(1) This malignancy originates from mutations of the retinoblastoma or RB1 gene, located in the 13q14 chromosomal region, which are highly penetrant and show a dominant autosomal pattern. This is the report of the first unilateral retinoblastoma case in a 57-year-old Colombian female, who presented to consultation with an advanced neovascular glaucoma in the left eye. Examination revealed an amelanotic intraocular mass that required enucleation.

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Conclusion

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