PMID- 23289805
OWN - NLM
STAT- MEDLINE
DCOM- 20140514
LR  - 20131112
IS  - 1744-5094 (Electronic)
IS  - 1381-6810 (Linking)
VI  - 34
IP  - 4
DP  - 2013 Dec
TI  - Clinical findings and molecular diagnosis of retinoblastoma in older children.
PG  - 238-42
LID - 10.3109/13816810.2012.752015 [doi]
AB  - BACKGROUND: Retinoblastoma (RB) is the most common primary childhood intraocular 
      malignancy and usually presents before the age of 4 years. RB in late childhood 
      is rare and may pose a diagnostic challenge to clinicians. MATERIALS AND METHODS: 
      Patients over the age of 4 years with RB were identified retrospectively. 
      Clinical data, histological findings, and molecular genetic diagnoses were 
      obtained. RESULTS: Two cases of late onset RB were identified. Case 1 was a 
      10-year-old boy who presented with floaters, and was found to have a unilateral 
      exudative retinal detachment and RB on clinical examination. Genetic testing 
      showed a novel homozygous mutation in exon 20 of the RB1 gene in the tumor 
      sample, c.2027_2034dup, resulting in p.Ile679X. No mutation was found in the DNA 
      obtained from the peripheral blood sample. Case 2 was a 6-year-old boy who 
      presented with loss of vision and pain in the left eye. RB was diagnosed on 
      clinical examination with exudative retinal detachment. Genetic testing showed no 
      mutation in the RB1 gene, but complete methylation of the RB1 promoter region. 
      CONCLUSIONS: RB can rarely present in late childhood. Clinicians should consider 
      RB as a diagnosis when faced with a patient with unexplained exudative retinal 
      detachment.
FAU - Sheck, Leo H N
AU  - Sheck LH
AD  - Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical 
      and Health Sciences, University of Auckland.
FAU - Ng, Yvonne S P
AU  - Ng YS
FAU - Watson, Mike
AU  - Watson M
FAU - Vincent, Andrea L
AU  - Vincent AL
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20130104
PL  - England
TA  - Ophthalmic Genet
JT  - Ophthalmic genetics
JID - 9436057
RN  - 0 (Antineoplastic Agents)
RN  - 0 (Retinoblastoma Protein)
SB  - IM
MH  - Antineoplastic Agents/therapeutic use
MH  - Child
MH  - DNA Methylation
MH  - DNA Mutational Analysis
MH  - Diagnosis, Differential
MH  - Exons/genetics
MH  - *Genes, Retinoblastoma
MH  - Humans
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Molecular Diagnostic Techniques
MH  - *Mutation
MH  - Polymerase Chain Reaction
MH  - Retinal Detachment/diagnosis
MH  - Retinal Neoplasms/diagnosis/drug therapy/*genetics
MH  - Retinoblastoma/diagnosis/drug therapy/*genetics
MH  - Retinoblastoma Protein/*genetics
MH  - Retrospective Studies
MH  - Sequence Analysis, DNA
MH  - Visual Acuity
EDAT- 2013/01/08 06:00
MHDA- 2014/05/16 06:00
CRDT- 2013/01/08 06:00
PHST- 2013/01/08 06:00 [entrez]
PHST- 2013/01/08 06:00 [pubmed]
PHST- 2014/05/16 06:00 [medline]
AID - 10.3109/13816810.2012.752015 [doi]
PST - ppublish
SO  - Ophthalmic Genet. 2013 Dec;34(4):238-42. doi: 10.3109/13816810.2012.752015. Epub 
      2013 Jan 4.