July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Next Generation Sequencing in Pigmented Paravenous Retinochoroidal Atrophy
Author Affiliations & Notes
  • Huber Martins Vasconcelos
    Retina/Genetics, OHSU/Casey Eye Institute, Portland, Oregon, United States
  • Amanda Mitchell
    Ophth & Molecular Med Genetics, OHSU/Casey Eye Institute, Portland, Oregon, United States
  • Florin Gregorian
    Ophth & Molecular Med Genetics, OHSU/Casey Eye Institute, Portland, Oregon, United States
  • Pei-Wen Chiang
    OHSU, Portland, Oregon, United States
  • Rui Chen
    Baylor College of Medicine, Houston, Texas, United States
  • Yumei Li
    Baylor College of Medicine, Houston, Texas, United States
  • Richard G Weleber
    Ophth & Molecular Med Genetics, OHSU/Casey Eye Institute, Portland, Oregon, United States
  • Mark E Pennesi
    Ophth & Molecular Med Genetics, OHSU/Casey Eye Institute, Portland, Oregon, United States
  • Paul Yang
    Ophth & Molecular Med Genetics, OHSU/Casey Eye Institute, Portland, Oregon, United States
  • Footnotes
    Commercial Relationships   Huber Vasconcelos, None; Amanda Mitchell, None; Florin Gregorian, None; Pei-Wen Chiang, Molecular Vision Laboratory (E); Rui Chen, None; Yumei Li, None; Richard Weleber, AGTC (C), Foundation Fighting Blindness (C); Mark Pennesi, None; Paul Yang, Astellas pharma inc (C), Casey Eye Institute - Research to prevent Blindness (F), Foundation Fighting Blindness (F), NIH K08EY026650 (F)
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 2339. doi:
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      Huber Martins Vasconcelos, Amanda Mitchell, Florin Gregorian, Pei-Wen Chiang, Rui Chen, Yumei Li, Richard G Weleber, Mark E Pennesi, Paul Yang; Next Generation Sequencing in Pigmented Paravenous Retinochoroidal Atrophy. Invest. Ophthalmol. Vis. Sci. 2018;59(9):2339.

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

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Abstract

Purpose : Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare disease characterized by bilateral symmetric paravenous retinochoroidal degeneration with accumulation of pigment clumps. The underlying cause for PPRCA remains unknown, but genetic etiology and secondary infectious or inflammatory processes have been proposed. In this study, we conducted a case review of genetic test results in patients with PPRCA.

Methods : This is a retrospective observational case study, wherein all electronic medical records with a previous diagnosis of PPRCA at Casey Eye Institute underwent review of the chart and fundus photography. Of the 19 identified records, 9 patients had characteristic fundus findings consistent with PPRCA with no evidence of secondary uveitic etiology. Of these patients, 5 had large panel genetic testing using next generation sequencing (NGS) at one of our reference laboratories. The number of genes tested in the various NGS panels ranged from 183 to 260.

Results : Of the 9 patients with PPRCA, there were 3 males and 6 females. Two patients were siblings. The age at diagnosis ranged from 6 to 78 years (mean: 38 ±22 yrs). Average best-corrected visual acuity between the two eyes of each patient ranged from 20/15 to 20/80 (mean: 0.25 ±0.19 logMAR or 20/35). Three patients had negative results from genetic testing. One patient had one VUS in VCAN (c.4882G>A:p.Val1628Ile). One patient had one reported mutation in ABCA4 (p.Val2050Leu:c.6148G>C) and three VUS’s in ABCA4 (c.-92C>T), ROM1 (p.Arg229His:c.686G>A), and PITPNM3 (c.*88G>C), but notably had no characteristic fundus fleck deposits.

Conclusions : In this case series, patients with PPRCA were diagnosed over a wide age range, but presented with relatively preserved visual acuity. Large panel NGS was inconclusive in the five patients tested. Even though PPRCA has been associated with CRB1 in one reported family, CRB1 mutations were not identified in our cohort thus far. Future studies to expand genetic testing and utilize whole exome sequencing in larger cohorts will be necessary to further investigate the genetic etiology of PPRCA.

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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