Cargando…

Comparing Cone Structure and Function in RHO- and RPGR-Associated Retinitis Pigmentosa

PURPOSE: To study cone structure and function in patients with retinitis pigmentosa (RP) owing to mutations in rhodopsin (RHO), expressed in rod outer segments, and mutations in the RP-GTPase regulator (RPGR) gene, expressed in the connecting cilium of rods and cones. METHODS: Four eyes of 4 patient...

Descripción completa

Detalles Bibliográficos
Autores principales: Foote, Katharina G., Wong, Jessica J., Boehm, Alexandra E., Bensinger, Ethan, Porco, Travis C., Roorda, Austin, Duncan, Jacque L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7401955/
https://www.ncbi.nlm.nih.gov/pubmed/32343782
http://dx.doi.org/10.1167/iovs.61.4.42
_version_ 1783566664399323136
author Foote, Katharina G.
Wong, Jessica J.
Boehm, Alexandra E.
Bensinger, Ethan
Porco, Travis C.
Roorda, Austin
Duncan, Jacque L.
author_facet Foote, Katharina G.
Wong, Jessica J.
Boehm, Alexandra E.
Bensinger, Ethan
Porco, Travis C.
Roorda, Austin
Duncan, Jacque L.
author_sort Foote, Katharina G.
collection PubMed
description PURPOSE: To study cone structure and function in patients with retinitis pigmentosa (RP) owing to mutations in rhodopsin (RHO), expressed in rod outer segments, and mutations in the RP-GTPase regulator (RPGR) gene, expressed in the connecting cilium of rods and cones. METHODS: Four eyes of 4 patients with RHO mutations, 5 eyes of 5 patients with RPGR mutations, and 4 eyes of 4 normal subjects were studied. Cone structure was studied with confocal and split-detector adaptive optics scanning laser ophthalmoscopy (AOSLO) and spectral-domain optical coherence tomography. Retinal function was measured using a 543-nm AOSLO-mediated adaptive optics microperimetry (AOMP) stimulus. The ratio of sensitivity to cone density was compared between groups using the Wilcoxon rank-sum test. RESULTS: AOMP sensitivity/cone density in patients with RPGR mutations was significantly lower than normal (P < 0.001) and lower than patients with RHO mutations (P < 0.015), whereas patients with RHO mutations were similar to normal (P > 0.9). CONCLUSIONS: Retinal sensitivity/cone density was lower in patients with RPGR mutations than normal and lower than patients with RHO mutations, perhaps because cones express RPGR and degenerate primarily, whereas cones in eyes with RHO mutations die secondary to rod degeneration. High-resolution microperimetry can reveal differences in cone degeneration in patients with different forms of RP.
format Online
Article
Text
id pubmed-7401955
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher The Association for Research in Vision and Ophthalmology
record_format MEDLINE/PubMed
spelling pubmed-74019552020-08-18 Comparing Cone Structure and Function in RHO- and RPGR-Associated Retinitis Pigmentosa Foote, Katharina G. Wong, Jessica J. Boehm, Alexandra E. Bensinger, Ethan Porco, Travis C. Roorda, Austin Duncan, Jacque L. Invest Ophthalmol Vis Sci Retina PURPOSE: To study cone structure and function in patients with retinitis pigmentosa (RP) owing to mutations in rhodopsin (RHO), expressed in rod outer segments, and mutations in the RP-GTPase regulator (RPGR) gene, expressed in the connecting cilium of rods and cones. METHODS: Four eyes of 4 patients with RHO mutations, 5 eyes of 5 patients with RPGR mutations, and 4 eyes of 4 normal subjects were studied. Cone structure was studied with confocal and split-detector adaptive optics scanning laser ophthalmoscopy (AOSLO) and spectral-domain optical coherence tomography. Retinal function was measured using a 543-nm AOSLO-mediated adaptive optics microperimetry (AOMP) stimulus. The ratio of sensitivity to cone density was compared between groups using the Wilcoxon rank-sum test. RESULTS: AOMP sensitivity/cone density in patients with RPGR mutations was significantly lower than normal (P < 0.001) and lower than patients with RHO mutations (P < 0.015), whereas patients with RHO mutations were similar to normal (P > 0.9). CONCLUSIONS: Retinal sensitivity/cone density was lower in patients with RPGR mutations than normal and lower than patients with RHO mutations, perhaps because cones express RPGR and degenerate primarily, whereas cones in eyes with RHO mutations die secondary to rod degeneration. High-resolution microperimetry can reveal differences in cone degeneration in patients with different forms of RP. The Association for Research in Vision and Ophthalmology 2020-04-28 /pmc/articles/PMC7401955/ /pubmed/32343782 http://dx.doi.org/10.1167/iovs.61.4.42 Text en Copyright 2020 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
spellingShingle Retina
Foote, Katharina G.
Wong, Jessica J.
Boehm, Alexandra E.
Bensinger, Ethan
Porco, Travis C.
Roorda, Austin
Duncan, Jacque L.
Comparing Cone Structure and Function in RHO- and RPGR-Associated Retinitis Pigmentosa
title Comparing Cone Structure and Function in RHO- and RPGR-Associated Retinitis Pigmentosa
title_full Comparing Cone Structure and Function in RHO- and RPGR-Associated Retinitis Pigmentosa
title_fullStr Comparing Cone Structure and Function in RHO- and RPGR-Associated Retinitis Pigmentosa
title_full_unstemmed Comparing Cone Structure and Function in RHO- and RPGR-Associated Retinitis Pigmentosa
title_short Comparing Cone Structure and Function in RHO- and RPGR-Associated Retinitis Pigmentosa
title_sort comparing cone structure and function in rho- and rpgr-associated retinitis pigmentosa
topic Retina
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7401955/
https://www.ncbi.nlm.nih.gov/pubmed/32343782
http://dx.doi.org/10.1167/iovs.61.4.42
work_keys_str_mv AT footekatharinag comparingconestructureandfunctioninrhoandrpgrassociatedretinitispigmentosa
AT wongjessicaj comparingconestructureandfunctioninrhoandrpgrassociatedretinitispigmentosa
AT boehmalexandrae comparingconestructureandfunctioninrhoandrpgrassociatedretinitispigmentosa
AT bensingerethan comparingconestructureandfunctioninrhoandrpgrassociatedretinitispigmentosa
AT porcotravisc comparingconestructureandfunctioninrhoandrpgrassociatedretinitispigmentosa
AT roordaaustin comparingconestructureandfunctioninrhoandrpgrassociatedretinitispigmentosa
AT duncanjacquel comparingconestructureandfunctioninrhoandrpgrassociatedretinitispigmentosa