Open AccessIris Hypoplasia as the Presenting Sign of Retinoblastoma in a Child With a 13q Deletion
Author(s) -
Sona Shah,
Yaran Koban,
Bao Han A. Le,
Mercy Bechtold,
Emily Zolfaghari,
Jonathan W. Kim,
Jesse L. Berry
Publication year - 2018
Publication title -
journal of pediatric ophthalmology and strabismus
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.416
H-Index - 46
eISSN - 1938-2405
pISSN - 0191-3913
DOI - 10.3928/01913913-20180215-02
Subject(s) - retinoblastoma , medicine , iris (biosensor) , hypoplasia , germline , gene deletion , pathology , genetics , gene , anatomy , biology , computer security , computer science , mutant , biometrics
Germline partial chromosomal deletions of the entire RB1 gene (13q deletions), account for 6% of the RB1 mutational spectrum. The authors report the rare case of one patient with suspected bilateral iris heterochromia who actually had iris hypoplasia (often masquerading as heterochromia) and bilateral retinoblastoma, due to 13q deletion syndrome. [J Pediatr Ophthalmol. 2018;55:e10-e13.].