Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in theRPGRexon ORF15

Purpose To evaluate the donor retina of a patient with X-linked cone-rod dystrophy caused by anRPGRexon ORF15 mutation. Design Histopathologic study of the retina. Methods The eye of a 69-year-old man was fixed at 1.6 hourspostmortemand processed for histopathology and immunocytochemistry. Results G...

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Bibliographic Details
Published in:American journal of ophthalmology 2005-02, Vol.139 (2), p.386
Main Authors: Demirci, F Yesim K, Gupta, Nisha, Radak, Amy L, Rigatti, Brian W, Mah, Tammy S, Milam, Ann H, Gorin, Michael B
Format: Article
Language:English
Subjects:
Histopathology
Macular degeneration
Mutation
Photoreceptors
Retina
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Summary:Purpose To evaluate the donor retina of a patient with X-linked cone-rod dystrophy caused by anRPGRexon ORF15 mutation. Design Histopathologic study of the retina. Methods The eye of a 69-year-old man was fixed at 1.6 hourspostmortemand processed for histopathology and immunocytochemistry. Results Grossly, the macula was atrophic with a bull's-eye appearance. The remaining retina showedpostmortemedema but no intraretinal pigment. Microscopically, the macular retinal pigment epithelium was absent focally and had pigmentary changes elsewhere. Cones and rods were absent from the perifovea and reduced with shortened outer segments elsewhere in the macula. In the remainder of the retina, cones but not rods were reduced and all photoreceptor outer segments were shortened. Conclusions The abnormalities in both cone and rod photoreceptors confirm the importance ofRPGRin both cell types but leaves unresolved how various exon ORF15 mutations lead to different clinical phenotypes.
ISSN:0002-9394
1879-1891
DOI:10.1016/j.ajo.2004.08.041