Microcephaly and congenital grouped pigmentation of the retinal pigment epithelium associated with submicroscopic deletions of 13q33.3-q34 and 11p15.4.
Congenital grouped pigmentation of the retinal pigment epithelium (CGPRPE) is a rare ocular abnormality that has been described as an isolated finding or in conjunction with a few systemic conditions. We present the case of a patient with CGPRPE who also has microcephaly, intrauterine growth retardation, mild developmental delay, and deletions of 13q33.3-q34 and 11p15.4. We believe this represents a distinct syndrome in which CGPRPE and microcephaly are the predominant features and that the responsible gene possibly resides in one of the deleted chromosomal regions.
Siddiqui
Ajaz M
AM
Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio.
Everman
David B
DB
Rogers
R Curtis
RC
DuPont
Barbara R
BR
Smith
Brooke T
BT
Seaver
Laurie H
LH
Morales
Augusto
A
Varn
Mary
M
Cohen
Bruce
B
Traboulsi
Elias I
EI
D002675:Child, Preschool; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D012164:Retinal Diseases / Q000235:genetics*; D055213:Retinal Pigment Epithelium / Q000473:pathology*