Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.

doi:10.1371/journal.pone.0104163

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Article

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.

PloS one - 1 Jan 2014

Davidson Alice E, Cheong Sek-Shir, Hysi Pirro G, Venturini Cristina, Plagnol Vincent, Ruddle Jonathan B, Ali Hala, Carnt Nicole, Gardner Jessica C, Hassan Hala, Gade Else, Kearns Lisa, Jelsig Anne Marie, Restori Marie, Webb Tom R, Laws David, Cosgrove Michael, Hertz Jens M, Russell-Eggitt Isabelle, Pilz Daniela T, Hammond Christopher J, Tuft Stephen J, Hardcastle Alison J

Abstract excerpt

We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a reliable clinical diagnostic tool to distinguish between MGC1 and primary congenital glaucoma (PCG). Megalocornea is also a feature of Neuhäuser or megalocornea-mental retardation (MMR) syndrome, a rare condition of unknown etiology. In a male patient...

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Identifiers

PMID: 25093588
DOI: 10.1371/journal.pone.0104163
PMCID: PMC4122416

Genes

CHRDL1

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