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

Beth Kutzbach, Nancy Mendelsohn, Pamela Rath, C. Gail Summers

Ophthalmology & Visual Neurosciences

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

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.

Original language	English (US)
Pages (from-to)	513-515
Number of pages	3
Journal	Journal of AAPOS
Volume	11
Issue number	5
DOIs	https://doi.org/10.1016/j.jaapos.2007.04.012
State	Published - Oct 2007

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Publisher link

10.1016/j.jaapos.2007.04.012

Find It

Find It at U of M Libraries

Cite this

@article{fd9de19ae94e4f619be1f8b8dc8d6bfd,

title = "Sectoral iris heterochromia and retinal pigment variation in 13q-syndrome",

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.",

author = "Beth Kutzbach and Nancy Mendelsohn and Pamela Rath and Summers, {C. Gail}",

year = "2007",

month = oct,

doi = "10.1016/j.jaapos.2007.04.012",

language = "English (US)",

volume = "11",

pages = "513--515",

journal = "Journal of AAPOS",

issn = "1091-8531",

publisher = "Mosby Inc.",

number = "5",

}

TY - JOUR

T1 - Sectoral iris heterochromia and retinal pigment variation in 13q-syndrome

AU - Kutzbach, Beth

AU - Mendelsohn, Nancy

AU - Rath, Pamela

AU - Summers, C. Gail

PY - 2007/10

Y1 - 2007/10

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=35148869623&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=35148869623&partnerID=8YFLogxK

U2 - 10.1016/j.jaapos.2007.04.012

DO - 10.1016/j.jaapos.2007.04.012

M3 - Article

C2 - 17933676

AN - SCOPUS:35148869623

SN - 1091-8531

VL - 11

SP - 513

EP - 515

JO - Journal of AAPOS

JF - Journal of AAPOS

IS - 5

ER -

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

Abstract

UN SDGs

Publisher link

Find It

Other files and links

Fingerprint

Cite this