Bilateral retinoblastoma with one eye manifesting only posterior chamber infiltration and no retinal involvement.
We report the case of a 23-month-old girl with bilateral retinoblastoma that demonstrated absence of retinal lesions in one eye but had an isolated white tumor in the posterior chamber. Genetic testing confirmed a novel and de novo RB1 germline mutation in the proband that was not carried by her parents. After intravenous chemotherapy and brachytherapy to the eye with apparently disease-free retina, anatomic and functional preservation of the eye was achieved. The patient has been in remission for 18 months.
Ophthalmology Department, Clínica Alemana de Santiago, Facultad de Medicina Universidad del Desarrollo, Santiago, Chile; Ophthalmology Department, Hospital San Juan de Dios, Santiago, Chile.
Diego
D
Ossandon
Ophthalmology Department, Pontificia Universidad Católica de Chile, Santiago, Chile. Electronic address: akastner@uc.cl.
Alan
A
Kastner
Ophthalmology Department, Clínica Alemana de Santiago, Facultad de Medicina Universidad del Desarrollo, Santiago, Chile.
Mario
M
Zanolli
Ophthalmology Department, Pontificia Universidad Católica de Chile, Santiago, Chile.
Federica
F
Solanes
Ministerio de Salud, Gobierno de Chile, Programa Infantil Nacional de Drogas Antineoplásicas (PINDA), Santiago, Chile.
Verónica
V
Pérez
Genetic and Genomic Centre, Clínica Alemana de Santiago, Facultad de Medicina, Universidad del Desarrollo, Santiago, Chile.
Gabriela
G
Repetto
Genetic and Genomic Centre, Clínica Alemana de Santiago, Facultad de Medicina, Universidad del Desarrollo, Santiago, Chile.
Felipe
F
Benavides
Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.
Carol L
CL
Shields
D001918:Brachytherapy; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D012160:Retina; D019572:Retinal Neoplasms / Q000235:genetics* / Q000628:therapy; D012175:Retinoblastoma / Q000235:genetics* / Q000628:therapy; D056286:Retinoblastoma Binding Proteins / Q000235:genetics; D044767:Ubiquitin-Protein Ligases / Q000235:genetics
C000606393:RB1 protein, human; D056286:Retinoblastoma Binding Proteins; D044767:Ubiquitin-Protein Ligases