July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Confirmation and Refinement of the Heterozygous Deletion of the Small Leucine-rich Proteoglycans Associated with Posterior Amorphous Corneal Dystrophy
Author Affiliations & Notes
  • Anthony Aldave
    Stein Eye Institute, Los Angeles, California, United States
  • Aleck Cervantes
    Stein Eye Institute, Los Angeles, California, United States
  • Katherine Gee
    Stein Eye Institute, Los Angeles, California, United States
  • Martha Whiting
    University of Maryland School of Medicine, Baltimore, Maryland, United States
  • Ricardo F Frausto
    Stein Eye Institute, Los Angeles, California, United States
  • Footnotes
    Commercial Relationships   Anthony Aldave, None; Aleck Cervantes, None; Katherine Gee, None; Martha Whiting, None; Ricardo Frausto, None
  • Footnotes
    Support  Support provided by National Eye Institute Grants 1R01 EY022082 (A.J.A.), P30 EY000331 (core grant), the Walton Li Chair in Cornea and Uveitis (A.J.A.), the Stotter Revocable Trust and an unrestricted grant from Research to Prevent Blindness.
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 2924. doi:
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      Anthony Aldave, Aleck Cervantes, Katherine Gee, Martha Whiting, Ricardo F Frausto; Confirmation and Refinement of the Heterozygous Deletion of the Small Leucine-rich Proteoglycans Associated with Posterior Amorphous Corneal Dystrophy. Invest. Ophthalmol. Vis. Sci. 2018;59(9):2924.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To present the clinical and cytogenetic features of a previously unreported family with posterior amorphous corneal dystrophy (PACD) associated with a heterozygous deletion of the small leucine-rich proteoglycan genes on chromosome 12.

Methods : Clinical characterization was performed using slit lamp biomicroscopic and optical coherence tomography (OCT) imaging. Genomic DNA was collected from affected and unaffected family members and a cytogenomic array was used to identify copy number variations (CNV) present in the PACD locus.

Results : Three members of a Guatemalan family presented with clinical characteristics consistent with PACD: bilateral posterior stromal lamellar opacification, decreased corneal curvature and iridocorneal adhesions. OCT corneal imaging demonstrated homogenous hyperreflectivity involving the posterior third of the stroma in each eye. CNV analysis confirmed the presumed clinical diagnosis of PACD by revealing a 0.304 Mb heterozygous deletion in the PACD locus on chromosome 12 that included the four small leucine-rich proteoglycan (SLRP) genes (KERA, LUM, DCN, and EPYC) deleted in each of the PACD families in which CNV analysis has been reported.

Conclusions : This is the first report of the OCT appearance of PACD and the second confirmation of a heterozygous deletion of chromosome 12q21.33 as the cause of PACD, highlighting the utility of array-based cytogenomics to confirm the suspected clinical diagnosis of PACD. As the smallest previously reported pathogenic deletion was 0.701 Mb, the 0.304 Mb deletion we report is the smallest identified to date and reduces the size of the PACD locus to 0.275 Mb.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.

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