A case of bilateral retinoblastoma with a novel mutation presenting at retinopathy of prematurity screening

Saudi Med J. 2012 Jun;33(6):680.

Author

Sameer Y Al-Abdi¹

Affiliation

¹ Neonatology Division, Department of Pediatrics, MC 315, King Abdulaziz Hospital for National Guard, PO Box 2477, Al-Ahsa 31982, Kingdom of Saudi Arabia. abdis@ngha.med.sa

PMID: 22729126

No abstract available

Publication types

Case Reports
Twin Study

MeSH terms

Antineoplastic Combined Chemotherapy Protocols / therapeutic use
Codon, Terminator / genetics
Female
Follow-Up Studies
Frameshift Mutation / genetics
Genetic Markers / genetics
Humans
Incidental Findings
Infant, Newborn
Infant, Premature
Laser Therapy / methods
Male
Neonatal Screening
Point Mutation / genetics*
Retinal Neoplasms / diagnosis*
Retinal Neoplasms / genetics*
Retinal Neoplasms / therapy
Retinoblastoma / diagnosis*
Retinoblastoma / genetics*
Retinoblastoma / therapy
Retinoblastoma Protein / genetics*
Retinopathy of Prematurity / diagnosis
Thymine / metabolism
Treatment Outcome
Twins, Dizygotic

Substances

Codon, Terminator
Genetic Markers
Retinoblastoma Protein
Thymine