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Daisuke Miyamichi, Sachiko Nishina, Katsuhiro Hosono, Tadashi Yokoi, Kentaro Kurata, Miho Sato, Shinsei Minoshima, Maki Fukami, Yoshihiro Hotta, Noriyuki Azuma; Changes in macular structure and retinal function in patients with Leber congenital amaurosis with RPGRIP1 mutations. Invest. Ophthalmol. Vis. Sci. 2017;58(8):574.
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© ARVO (1962-2015); The Authors (2016-present)
Leber congenital amaurosis (LCA) with RPGRIP1 mutations manifests in patients as a loss of photoreceptors within the first decade life regardless of whether they have a normal central fundus. We evaluated the macular structure and retinal function in patients with LCA with RPGRIP1 mutations.
We examined 4 Japanese patients in 2 families (family ID: LCA20, LCA55) at the National Center for Child Health and Development. Case 1: 13-year-old female in LCA20; Cases 2 and 3: 7-year-old male monozygotic twins in LCA20; Case 4: 15-year-old male in LCA55. We collected complete medical histories and conducted pedigree analyses and ophthalmic examinations, including optical coherence tomography (OCT). Electroretinography (ERG) was recorded according to International Society for Clinical Electrophysiology of Vision protocol. To identify causative mutations, 74 genes known to cause retinitis pigmentosa or LCA were examined by targeted-next generation sequencing (NGS), using a custom-designed Agilent HaloPlex target enrichment kit with illumine Miseq sequencer.
Cases 1, 2, and 3 carried the homozygous c.3565_3571del mutation. Case 4 was compound heterozygous for the novel splice mutation c.1467+1G>T and the exon 17 deletion mutation. ERG showed that rod and cone responses were severely reduced in Case 1 at 7 years of age. The rod response was subnormal while the cone response was severely reduced in Case 2 and 3 at 1 year 3 months. The cone response was undetectable and the rod response was slightly reduced in Case 4 at 7 years. OCT indicated that the outer nuclear layer (ONL) was slightly thinning with increasing age in Case 1 between 7 and 11 years. The OLN retained a relatively uniform thickness in Cases 2 and 3 at 1 year 6 months of age. ONL thickness in Case 4 at 7 years was lower than normal. Although OCT showed a thinning of the ONL in all 4 cases, lamellar structures were retained at the foveal area.
We described the ONL thinning at the perifoveal area as well as retinal dysfunction in 4 LCA cases with RPGRIP1 mutations. To our knowledge, this is the youngest OCT data of the patients with LCA with RPGRIP1 mutation. Although four cases in 2 families exhibited various clinical findings of LCA, it is suggested that ONL on OCT and rod function on ERG are relatively retained in patients with LCA with RPGRIP1 mutation in early childhood.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
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