ArticleAmerican journal of ophthalmology case reports2022
Clinical and imaging findings of choroideremia in a pediatric patient due to a novel frameshift mutation.
Article in American journal of ophthalmology case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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.
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.
Who cites it
0 citing papers in PubMed, 0 citations in OpenAlex.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Purpose: To describe the clinical characteristics, imaging findings and genetic testing results of a young simplex male with choroideremia. Observations: A 6-year-old Hispanic-Chinese male was referred to the retina clinic for peripheral retinal pigmentary changes observed in both eyes on routine exam. The patient has an unremarkable family history and developmental history. Best corrected visual acuity was 20/25 in both eyes. Optical coherence tomography demonstrated attenuation of the ellipsoid and interdigitation zones. Widefield fundus autofluorescence demonstrated nummular hypo-autofluorescence peripherally in both eyes. Genetic testing revealed a variant originally described as a variant of uncertain significance (VUS) a c. 1775_1814del (p.Glu592Valfs*44) identified in the Conclusions: The multimodal imaging findings demonstrated here illustrate important clues to the diagnosis of Choroideremia in a simplex male.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.