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J AAPOS. 2018 Aug;22(4):323-325. doi: 10.1016/j.jaapos.2017.12.008. Epub 2018 Mar 14.

Ocular manifestations of PACS1 mutation.

Author information

1
Wills Eye Hospital, Philadelphia, Pennsylvania.
2
Einstein Medical Center, Philadelphia, Pennsylvania.
3
Hospital of University of Pennsylvania, Philadelphia.
4
Wills Eye Hospital, Philadelphia, Pennsylvania; Thomas Jefferson University, Philadelphia, Pennsylvania. Electronic address: alevin@willseye.org.

Abstract

Heterozygous mutation in the PACS1 (phosphofurin acidic cluster sorting proteins 1) gene is a known cause of developmental delay, multiple congenital anomalies, dysmorphism, and ocular abnormalities. We present the case of an affected 10-year-old girl, conceived by assisted reproductive technology, who has ocular coloboma and findings characteristic of PACS1 mutation.

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