June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Para-arterial preservation of the inner retinal layer in Leber congenital amaurosis: an early and transient sign of retinal degeneration
Author Affiliations & Notes
  • Ariane de Lassus
    Jules-Gonin Eye Hospital, Prilly, Switzerland
  • Bart Peter Leroy
    Ophthalmology, Ghent University Hospital, Ghent, Belgium
    Ophthalmic Genetics and Retinal Degenerations clinics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
  • Veronika Vaclavik
    Jules-Gonin Eye Hospital, Prilly, Switzerland
  • Daniel F Schorderet
    IRO-Inst for Research in Ophthalmology, Sion, Switzerland
  • Francis L Munier
    Jules-Gonin Eye Hospital, Prilly, Switzerland
  • Hoai Viet Tran
    Jules-Gonin Eye Hospital, Prilly, Switzerland
  • Footnotes
    Commercial Relationships   Ariane de Lassus, None; Bart Leroy, None; Veronika Vaclavik, None; Daniel Schorderet, None; Francis Munier, None; Hoai Tran, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 2762. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Ariane de Lassus, Bart Peter Leroy, Veronika Vaclavik, Daniel F Schorderet, Francis L Munier, Hoai Viet Tran; Para-arterial preservation of the inner retinal layer in Leber congenital amaurosis: an early and transient sign of retinal degeneration. Invest. Ophthalmol. Vis. Sci. 2017;58(8):2762.

      Download citation file:


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

      ×
  • Supplements
Abstract

Purpose : To describe para-arterial preservation of the inner retinal layers (PPIR) as an early, transient sign, of retinal degeneration in Leber congenital amaurosis (LCA).

Methods : Five patients from 4 different kindreds diagnosed with LCA and presenting with PPIR were included. A comlete ophthalmological evaluation including fundus color photography, optical coherence tomography (OCT), fundus autofluorescence (fAF), electroretinography (ERG), molecular diagnosis, and natural course of PRPPE- when available- is reported.

Results : All mutations involved ciliary functions: one patient presented with CEP290, two with IQCB1 and 2 with SPATA7 mutations. ERGs performed shortly after birth were non recordable. Initial fundus examinations were otherwise normal but revealed an attenuated vascular caliber and coalescent whitish flecks with PPIR in the mid-periphery during follow-up. Age of onset /offset of PPIR were 30.5+-8.8 months of age /150.0 +- 25.5 months later, respectively. OCT revealed accumulation of hyperdense lamellar debris from the ellipsoid to the plexiform layer which was autofluorescent on blue-light fAF. With time this debris disappeared and progressive thinning of the neuroretina was seen.

Conclusions : PPIR seems to be an early sign, albeit of transient nature, in the retinal degeneration seen in some forms of LCA. All the genes reported in this study are ciliary genes. Further studies are needed to confirm this correlation.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.

 

Fundus photography of the left eye of a patient with IQCB1 associated LCA. The confluent whitish flecks in the mid-preiphery spare the immediate para-arterial space. Note the diminution of arterial caliber and an orange couloured macula.

Fundus photography of the left eye of a patient with IQCB1 associated LCA. The confluent whitish flecks in the mid-preiphery spare the immediate para-arterial space. Note the diminution of arterial caliber and an orange couloured macula.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×