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.