ArticleScientific reports2016
Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 14 citations in OpenAlex.
- Article
- Outer retinal tubulation associated with photoreceptor degeneration.Progress in retinal and eye research · 2026Review
- iPSC-derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function.The Journal of clinical investigation · 2023Article
- The first Japanese family of CDH3-related hypotrichosis with juvenile macular dystrophy.Molecular genetics & genomic medicine · 2021Article
- Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report.Skin appendage disorders · 2021Article
- Cell-Cell Junctions Organize Structural and Signaling Networks.Cold Spring Harbor perspectives in biology · 2018Review
- Article
- CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING.Retina (Philadelphia, Pa.) · 2017Review
- New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.BMC medical genetics · 2017Article
- Hypotrichosis with Juvenile Macular Dystrophy.International journal of trichologyArticle
- Novel Compound Heterozygous Variants inCase reports in ophthalmologyArticle
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder that causes childhood visual impairment. HJMD is caused by mutations in CDH3 which encodes cadherin-3, a protein expressed in retinal pigment epithelium (RPE) cells that may have a key role in intercellular adhesion. We present a case of HJMD and analyse its phenotypic and molecular characteristics to assess the potential for retinal gene therapy as a means of preventing severe visual loss in this condition. Longitudinal in vivo imaging of the retina showed the relative anatomical preservation of the macula, which suggested the presence of a therapeutic window for gene augmentation therapy to preserve visual acuity. The coding sequence of CDH3 fits within the packaging limit of recombinant adeno-associated virus vectors that have been shown to be safe in clinical trials and can efficiently target RPE cells. This report expands the number of reported cases of HJMD and highlights the phenotypic characteristics to consider when selecting candidates for retinal gene therapy.
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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.