1. From: A Frameshift Mutation in RPGR Exon ORF15 Causes Photoreceptor Degeneration and Inner Retina Remodeling in a Model of X-Linked Retinitis Pigmentosa
Invest. Ophthalmol. Vis. Sci ;47(4): doi: /iovs
Figure Legend:
Characterization of photoreceptor cell death and disease in XLPRA2. (A) Photoreceptor cell death in XLPRA2. (A1) TUNEL-labeling (green) of rod photoreceptor cells in a 5-week-old affected retina with DAPI nuclear counterstain (blue). (A2) TUNEL labeling (green) of a cone nucleus in a 40.6-week-old retina (arrow). An ectopically located cone nucleus that was not TUNEL-positive is highlighted (arrowhead). Cone photoreceptors were labeled with anti-human cone arrestin (red), and DAPI (blue) was used as a nuclear counterstain. (A3) Plastic section from peripheral retina of a 26-week-old retina shows a morphologically normal cone nucleus displaced in the IS (arrow and inset). (A4) TUNEL-labeling (green) of a fragmented ectopic cone nucleus (arrow) in a 40.6-week-old retina. Cone photoreceptors were labeled with anti-human cone arrestin (red), and DAPI (blue) was used as a nuclear counterstain. (B) Double immunofluorescence labeling of rod and cones with, respectively, anti-rod opsin (green) and anti-human cone arrestin (red) in normal (B1, 8.1 weeks) and affected (B2, B3) retinas. (B2) In a 7.9-week affected retina, rod opsin was mislocalized to the IS and ONL, and there was early rod neurite sprouting (arrows). (B3) In a 40.6-week affected retina, rod opsin–positive neurites extended deep into the inner retina. Rod opsin and cone arrestin expression persisted at this stage of disease, but there was a decrease in cone arrestin immunoreactivity at the level of the cone axons and pedicles, even though the cone IS and OS were present. (C) Double immunofluorescent labeling with anti-rod opsin (green) and anti-synaptophysin (red) in normal (C1) and affected (C2, C3) retinas. (C1) In a 12-week normal retina, both the OPL and IPL were labeled with the synaptophysin antibody. (C2) In a 12-week affected retina, there was OPL thinning and punctuate synaptophysin-positive labeling that colocalized with rod opsin positive neurites (arrows). (C3) A 40.6-week affected retina. A higher-magnification view showing colocalization of synaptophysin and rod opsin along beaded varicosities of rod neurites (arrowheads) and at their terminal ends (arrows). (D) Immunofluorescent labeling of cones with anti-S opsin (D1, D2), and anti-M/L opsin (D3, D4). (D1) In a 4-week normal retina, S opsin labeling was restricted to the OS of S cones. (D2) In a 3.9-week affected retina, S opsin was mislocalized to the IS (horizontal arrows), soma (vertical arrows), and axons (arrowheads) of some S cones. (D3) In a 6-week normal retina, M/L opsin labeling was predominantly restricted to the OS of M/L cones, although faint background labeling of the M/L cone somas and axons was present. (D4) In a 6-week affected retina, M/L opsin was mislocalized to the somas (vertical arrows), axons (arrowheads), and pedicles (oblique arrows) of most M/L cones in the peripheral retina. Scale bars: (A1) 40 μm; (A3) 10 μm; (A2, A4, B–D) 20 μm.
Date of download: 11/11/2017
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