Sectoral iris heterochromia and retinal pigment variation in 13q-syndrome

Beth Kutzbach; Nancy Mendelsohn; Pamela Rath; C Gail Summers

doi:10.1016/j.jaapos.2007.04.012

Sectoral iris heterochromia and retinal pigment variation in 13q-syndrome

J AAPOS. 2007 Oct;11(5):513-5. doi: 10.1016/j.jaapos.2007.04.012.

Authors

Beth Kutzbach¹, Nancy Mendelsohn, Pamela Rath, C Gail Summers

Affiliation

¹ Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.

PMID: 17933676
DOI: 10.1016/j.jaapos.2007.04.012

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / diagnosis*
Child, Preschool
Chromosome Aberrations*
Chromosomes, Human, 13-15 / genetics*
Cytogenetic Analysis / methods
Diagnosis, Differential
Eye Abnormalities / diagnosis*
Eye Abnormalities / genetics
Female
Humans
Iris / abnormalities*
Male
Pigment Epithelium of Eye / abnormalities*
Retina / abnormalities*
Syndrome