July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Clinical and genetic characterization of Pseudoxanthoma Elasticum patients
Author Affiliations & Notes
  • Iyar Sheps
    Ophthalmology, Assaf Harofeh Hospital, Tel Aviv, Israel
    Matlow’s Ophthalmogenetic laboratory, Assaf Harofe Medical Center, Israel
  • Chen Weiner
    Matlow’s Ophthalmogenetic laboratory, Assaf Harofe Medical Center, Israel
  • Nadav Shoshany
    Ophthalmology, Assaf Harofeh Hospital, Tel Aviv, Israel
    Matlow’s Ophthalmogenetic laboratory, Assaf Harofe Medical Center, Israel
  • Eran Pras
    Ophthalmology, Assaf Harofeh Hospital, Tel Aviv, Israel
    Matlow’s Ophthalmogenetic laboratory, Assaf Harofe Medical Center, Israel
  • Footnotes
    Commercial Relationships   Iyar Sheps, None; Chen Weiner, None; Nadav Shoshany, None; Eran Pras, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 404. doi:
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    • Get Citation

      Iyar Sheps, Chen Weiner, Nadav Shoshany, Eran Pras; Clinical and genetic characterization of Pseudoxanthoma Elasticum patients. Invest. Ophthalmol. Vis. Sci. 2019;60(9):404.

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

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Abstract

Purpose : To identify underlying mutations in five Pseudoxanthoma Elasticum (PXE) patients of different ethnicities with variable disease expression.

Methods : Five affected individuals (two sib-pairs and a single patient) were recruited. Medical history, clinical findings and OCT were recorded. Mutation analysis of ABCC6 gene was carried out by both Sanger sequencing and whole-exome sequencing (WES).

Results : Various retinal findings ranging from peau d'orange, angioid streaks and CNV to severe retinal atrophy were documented. Skin papules were found in both sib-pairs, but were absent in the single patient (P3), who demonstrated severe retinal changes. He was found to be a compound heterozygote to two novel ABCC6 mutations – a missense mutation (p.G1475E), and a frame-shift mutation causing single nucleotide deletion (c.1413delG). Siblings P1 and P2 were found to carry a homozygous splice site mutation by WES (c.3883-6G>A). Siblings P4 and P5 were found to carry a heterozygous compound missense and a nonsense variant (p.R1064W, p.R1141*).

Conclusions : Our study stresses the significance of thorough history taking and clinical examination when evaluating patients suspected for PXE. It expands the repertoire of PXE mutations, presenting two novel mutations contributing to compound heterozygosity in a patient with an irregular phenotype. Finally, it highlights the role of genetic tools in present and future medical practice, empowering the physician to achieve diagnosis through molecular methods.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

 

Skin Papules in the neck area of P1

Skin Papules in the neck area of P1

 

Color fundus photograph of P3's right eye, demonstrating diffuse atrophic changes

Color fundus photograph of P3's right eye, demonstrating diffuse atrophic changes

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