Sectoral iris heterochromia and retinal pigment variation in 13q-syndrome.
Chromosome 13q deletion syndrome is characterized by growth retardation, cognitive delays, and organ and musculoskeletal deformities. Typical ocular associations include retinoblastoma, microphthalmia, and colobomas. We report a case of bilateral iris heterochromia and retinal pigment abnormalities in a child with 13q-syndrome.
Kutzbach
Beth
B
Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
Mendelsohn
Nancy
N
Rath
Pamela
P
Summers
C Gail
CG
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15 / Q000235:genetics*; D020732:Cytogenetic Analysis / Q000379:methods; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008297:Male; D010857:Pigment Epithelium of Eye / Q000002:abnormalities*; D012160:Retina / Q000002:abnormalities*; D013577:Syndrome