ArticleGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2017
Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.
Article in Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 19 citations in OpenAlex.
- Independent Degeneration of Photoreceptors and Retinal Pigment Epithelium: Multimodal Imaging Evidence From Choroideremia Carriers.Investigative ophthalmology & visual science · 2026Article
- Choroideremia Carriers: Dark-Adapted Perimetry and Retinal Structures.Investigative ophthalmology & visual science · 2022Article
- Choroidal Vascularity Index in CHM Carriers.Frontiers in ophthalmology · 2021Article
- A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient.Molecular genetics & genomic medicine · 2020Article
- Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia.Investigative ophthalmology & visual science · 2020Article
- Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novelHuman genome variation · 2020Article
- Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM).Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2019Article
- Patterns and Intensities of Near-Infrared and Short-Wavelength Fundus Autofluorescence in Choroideremia Probands and Carriers.Investigative ophthalmology & visual science · 2019Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo describe clinical and molecular characteristics in a group of Italian female choroideremia (CHM) carriers and report fundus patterns.
methodsWe retrospectively studied 11 female carriers belonging to six CHM families examined at the Regional Reference Center for Hereditary Retinal Degenerations at the Eye Clinic in Florence. We took into consideration patients with a comprehensive ophthalmological examination, fundus photography, optical coherence tomography (OCT), full field electro-retinography (ERG), and visual field (VF). All patients were screened for mutations of the CHM gene.
resultsFundus examination revealed retinal abnormalities in all female carriers (11/11) in the study; in particular four fundus patterns were identified: pattern A (RPE dystrophy involving only the peripheral retina), pattern B (RPE dystrophy involving the peripheral retina and the posterior pole with small hypo-pigmented RPE areas), pattern C (RPE dystrophy involving the peripheral retina and the posterior pole with small yellowish well-defined dots), and pattern D (RPE dystrophy involving the peripheral retina and the posterior pole with large hypo-pigmented RPE areas and well-defined yellowish dots). Pattern D was characterized by widespread macular subretinal drusenoid deposits (SDD). Half of the observed mutations were novel mutations. A genotype-phenotype correlation was not identified.
conclusionsRetinal dystrophy and SDD were detected in our female CHM carriers, and fundus patterns have been described in this study. The recognition of specific fundoscopic patterns may permit a correct diagnosis, an appropriate molecular investigation and genetic counseling.
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