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Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11

Katrina Mears, MD1,2; Benjamin Bakall, MD, PhD1,2; Lisa A. Harney, BA1,2; Jessica A. Penticoff, BA1,2; Edwin M. Stone, MD, PhD1,2,3
[+] Author Affiliations
1Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City
2Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City
3Howard Hughes Medical Institute, University of Iowa, Iowa City
JAMA Ophthalmol. 2015;133(6):720-721. doi:10.1001/jamaophthalmol.2015.199.
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The syndrome now known as microcephaly associated with congenital lymphedema and chorioretinopathy (MLCR) was first described in 1980 by Alzial et al.1 Microcephaly with chorioretinal dysplasia has been reported to be inherited in an autosomal dominant or autosomal recessive manner and has a variety of associations, including lymphedema and mental retardation. Our patient displayed all 4 of these clinical characteristics and appeared to manifest an autosomal dominant inheritance pattern.

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Figure 1.
Color Fundus Photographs

Color fundus photographs of the right (A) and left (B) eyes showing gliosis of the optic nerve and an inferior area of chorioretinal atrophy extending from the arcades to the periphery.

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Figure 2.
Optical Coherence Tomographic Images

Horizontal (A and C) and vertical (B and D) optical coherence tomographic images of the right (A and B) and left (C and D) eyes showing thinning of the retina and loss of the ellipsoid zone in the perifoveal area. Green lines indicate the direction of the scan.

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