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Gayle Pauer, Vera Bonilha, Mary Rayborn, Brent Bell, Meghan Marino, Craig Beight, John Chiang, Elias Traboulsi, Stephanie Hagstrom, Joe Hollyfield; Retinal Histopathology in Eyes from Patients with Autosomal Recessive Retinitis Pigmentosa Caused by EYS Mutations. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1362.
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© ARVO (1962-2015); The Authors (2016-present)
To evaluate the histopathology in donor eyes from patients with autosomal recessive retinitis pigmentosa (arRP) caused by EYS mutations.
Eyes were obtained from a 72 year-old female (donor 1), a 91 year-old female (donor 2), and her 97 year-old sister (donor 3). Eyes were fixed in 4% paraformaldehyde and 0.5% glutaraldehyde in PBS within 6 to 11 hours postmortem. Globes were evaluated with macroscopic, SLO and OCT imaging. Macular and peripheral regions were processed for electron microscopy and immunocytochemistry. Three age-matched normal eyes and an eye donated by donor 1’s asymptomatic mother (donor 4) were used as controls. DNA was obtained from blood samples of the donors for mutation analysis.
DNA analysis of the affected brother of donor 1 revealed the EYS gene mutations, IVS11+1G→A and Q874X. DNA analysis of donors 2 and 3 led to identification of a heterozygous 7 base pair deletion, L1451fs, in exon 26 of the EYS gene. The histopathological findings of the retina of donor 1 and her asymptomatic mother (donor 4) were reported previously and are here compared to the findings in the retinas of donors 2 and 3. SLO of donor 3 showed hypofluorescence in one contiguous region involving the optic disk and macular region as opposed to the individually demarcated and isolated regions seen in donors 1 and 2. Histology of all three affected donors revealed a highly degenerate retina with little evidence of stratified nuclear layers in all peripheral areas studied. In contrast, the macular area displayed a prominent inner nuclear layer. Donors 2 and 3 revealed patchy areas of RPE in the macula whereas the RPE was thin in the macula and absent in the far periphery of donor 1. Rhodopsin-labeled rods were absent except in the far periphery of donor 1. However, rods were still present in the periphery of donors 2 and 3. Of interest, some rods were observed in the choroid of these eyes. In the macula, donor 2 displayed no rods while donor 3 displayed several disorganized rods. Cone arrestin-labeled cells were present in the macula, but were mostly absent from the periphery of donor 1. Patches of cones were observed in the perimacula of both donors 2 and 3.
Advanced retinal degenerative changes with near-total absence of rods and preservation of macular cones characterize the retinal histopathology of arRP patients due to EYS mutations.
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