Axenfeld-Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion.
Axenfeld-Rieger (AR) ocular anomaly might be due to deletions of different chromosomes. No association between AR, mental retardation, and retinoblastoma has been described. We report a 2-month-old female with general development delay and dysmorphic features. AR anomaly was detected, and a retinoblastoma (RB) was diagnosed in a very early stage. De novo 13q deletion was identified. Systemic chemotherapy, focal cryotherapy, transpupillary thermotherapy, brachytherapy, and intra-arterial chemotherapy were needed to control the RB. This is the first report of an association of AR, 13q deletion, and retinoblastoma, to be disclosed in patients born with such ocular and dysmorphic features.
Roche
Ana
A
Department of Child Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
Mora
Jaume
J
Perez
Maria Del Mar
Mdel M
Gean
Esther
E
Perez
Belen
B
O'Callaghan
Mar
M
Catala
Jaume
J
De Torres
Carmen
C
Cruz
Ofelia
O
Prat
Joan
J
Parareda
Andreu
A
D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D012175:Retinoblastoma / Q000235:genetics*; D013577:Syndrome