Tajuddin, Liza Sharmini Ahmad
(2011)
A study of rbl gene in malaysian children
with retinoblastoma: association of exon
18 mutation with clinical presentation.
A study of rbl gene in malaysian children with retinoblastoma: association of exon 18 mutation with clinical presentation.
Abstract
Background
To date, there is no reports are available on RB I gene mutations in Malaysian children with retinoblastoma. The purpose
of this study is to determine the presence of pocket B ElA domain mutations of RBI gene and their clinical presentation
in Malaysian children with retinoblastoma (RB).
Material and methods
Children with RB from 2 main referral centers in Malaysia who fulfilled the inclusion criteria were enrolled into this
study. Their clinical presentation were analyzed. Three mililitres of blood was taken for the genetic analysis from each
patient. Mutations of exon 20 to 22 of RB I gene were identified by standard techniques of DNA extraction, PCR
amplification, dHPLC and sequencing DNA.
Results
Fifty RB children (69 eyes) were recruited in this study. The most common presentation was leukocoria (65%)
followed by strabismus (9%), proptosis (7%), orbital inflammation (10%), vitreous haemorhage (3%) and secondary
glaucoma (3%). Majority presented at advanced stage. There was one mutation identified at the flanking region of
intron 19 (substitution A~G).
Conclusion: Leukocoria is the main clinical presentation in this study. Although strabismus, proptosis and orbital
inflammation accounts about 26 % of the patients, it cannot be considered as rare presentation. One mutation was found
in the flanking region ofintron 19.
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