ArticleMedical archives (Sarajevo, Bosnia and Herzegovina)2019
A Case Study of Choroideremia and Choroideremia Carrier.
Article in Medical archives (Sarajevo, Bosnia and Herzegovina), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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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.
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Who cites it
1 citing paper in PubMed, 1 citations in OpenAlex.
- Clinical and Population-Specific Insights Into Inherited Retinal Dystrophies From Whole-Exome Sequencing of the Polish Cohort.Investigative ophthalmology & visual science · 2026Article
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimThe aim of this case report was to report the clinical and genetic characteristics of choroideremia patient and a family member carrier. CASE REPORT: A comprehensive ophthalmologic examination, BCVA (best corrected visual acuity), fundus examination and photography, optical coherence tomography (OCT), OCT-angiography (OCTA), perimetry was conducted in choroideremia patient and a family member carrier. Clinical findings of choroidermia patient presented as significant atrophy of the choroid and retinal pigment epithelium (RPE) with the exception of a portion of preserved tissue in the macula. OCT showed foveal thickening with parafovoal RPE and fotoreceptor (FR) atrophy. OCTA revealed loss of choriocapillaris vasculature. Clinical diagnosis of CHM mutation was confirmed by multiplex ligation-dependent probe amplification assay (MLPA), followed by sequencing which revealed pathogen variance (c.1584_1587delTGTT). Clinical findings of carrier: small peripheral zones of atrophy and hyper pigmentation, without any symptoms or major visible changes on OCT or OCTA.
conclusionFollowing new frontiers in gene therapy it is of curtail importance to diagnose patients correctly as well as confirm clinical diagnosis by genetic testing.
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