Evidence map›Paper›PMID 26202387›Full record

ArticleGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2015

Retinal histopathology in eyes from patients with autosomal dominant retinitis pigmentosa caused by rhodopsin mutations.

Vera L Bonilha, Mary E Rayborn, Brent A Bell, Meghan J Marino, Craig D Beight, Gayle J Pauer, Elias I Traboulsi, Joe G Hollyfield, Stephanie A Hagstrom

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

  1. Article
  2. Gene Therapy for Rhodopsin Mutations.Cold Spring Harbor perspectives in medicine · 2022
    Article
  3. Article
  4. Review
  5. Article
  6. Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome.Investigative ophthalmology & visual science · 2016
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Vera L BonilhaCole Eye Institute, Cleveland Clinic, Ophthalmic Research - i31, 9500 Euclid Avenue, Cleveland, OH, 44195, USA. bonilhav@ccf.org.
Mary E RaybornCole Eye Institute, Cleveland Clinic, Ophthalmic Research - i31, 9500 Euclid Avenue, Cleveland, OH, 44195, USA.
Brent A BellCole Eye Institute, Cleveland Clinic, Ophthalmic Research - i31, 9500 Euclid Avenue, Cleveland, OH, 44195, USA.
Meghan J MarinoCole Eye Institute, Cleveland Clinic, Ophthalmic Research - i31, 9500 Euclid Avenue, Cleveland, OH, 44195, USA.
Craig D BeightCole Eye Institute, Cleveland Clinic, Ophthalmic Research - i31, 9500 Euclid Avenue, Cleveland, OH, 44195, USA.
Gayle J PauerCole Eye Institute, Cleveland Clinic, Ophthalmic Research - i31, 9500 Euclid Avenue, Cleveland, OH, 44195, USA.
Elias I TraboulsiCole Eye Institute, Cleveland Clinic, Ophthalmic Research - i31, 9500 Euclid Avenue, Cleveland, OH, 44195, USA.
Joe G HollyfieldCole Eye Institute, Cleveland Clinic, Ophthalmic Research - i31, 9500 Euclid Avenue, Cleveland, OH, 44195, USA.
Stephanie A HagstromCole Eye Institute, Cleveland Clinic, Ophthalmic Research - i31, 9500 Euclid Avenue, Cleveland, OH, 44195, USA.

Funding

Initiating Events in AMD: An Animal Model for the Human DiseaseR01EY014240 · NEI · CLEVELAND CLINIC LERNER COM-CWRU · PI HOLLYFIELD, JOE GILBERT · 2002 to 2015
$4.9M
NEI NIH HHS R01 EY014240NEI NIH HHS R01EY014240-08
6 · The paper itself

Abstract

purposeTo evaluate the histopathology in donor eyes from patients with autosomal dominant retinitis pigmentosa (ADRP) caused by p.P23H, p.P347T and p.P347L rhodopsin ( RHO ) gene mutations.

methodsEyes from a 72-year-old male (donor 1), an 83-year-old female (donor 2), an 80-year-old female (donor 3), and three age-similar normal eyes were examined macroscopically, by scanning laser ophthalmoscopy and optical coherence tomography imaging. Perifoveal and peripheral pieces were processed for microscopy and immunocytochemistry with markers for photoreceptor cells.

resultsDNA analysis revealed RHO mutations c.68C>A (p.P23H) in donor 1, c.1040C>T (p.P347L) in donor 2 and c.1039C>A (p.P347T) in donor 3. Histology of the ADRP eyes showed retinas with little evidence of stratified nuclear layers in the periphery and a prominent inner nuclear layer present in the perifoveal region in the p.P23H and p.P347T eyes, while it was severely atrophic in the p.P347L eye. The p.P23H and p.P347T mutations cause a profound loss of rods in both the periphery and perifovea, while the p.P347L mutation displays near complete absence of rods in both regions. All three rhodopsin mutations caused a profound loss of cones in the periphery. The p.P23H and p.P347T mutations led to the presence of highly disorganized cones in the perifovea. However, the p.P347L mutation led to near complete absence of cones also in the perifovea.

conclusionsOur results support clinical findings indicating that mutations affecting residue P347 develop more severe phenotypes than those affecting P23. Furthermore, our results indicate a more severe phenotype in the p.P347L retina as compared to the p.P347T retina.

Indexed as

Point MutationAgedAged, 80 and overArrestinElectroretinographyFemaleHumansImmunohistochemistryMaleOphthalmoscopyPedigreeRetinal Cone Photoreceptor CellsRetinal Rod Photoreceptor CellsRetinitis PigmentosaRhodopsinRod OpsinsArrestinlong-wavelength opsinmiddle-wavelength opsinRhodopsinRod OpsinsHistopathologyImmunohistochemistryPhotoreceptorsRetinitis pigmentosaRhodopsin mutations

Identifiers

PMID26202387
PMCPMC9629391

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.