ArticleJapanese journal of ophthalmology2017
In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.
Article in Japanese journal of ophthalmology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 30 citations in OpenAlex.
- From Cellular to Metabolic: Advances in Imaging of Inherited Retinal Diseases.Diagnostics (Basel, Switzerland) · 2024Review
- Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights.Scientific reports · 2024Article
- Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.American journal of ophthalmology · 2020Article
- Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants.Japanese journal of ophthalmology · 2020Article
- Retinal imaging in inherited retinal diseases.Annals of eye science · 2020Article
- Intraobserver Repeatability and Interobserver Reproducibility of Foveal Cone Density Measurements inTranslational vision science & technology · 2020Article
- Photoreceptor Structure in GNAT2-Associated Achromatopsia.Investigative ophthalmology & visual science · 2020Article
- RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.Investigative ophthalmology & visual science · 2020Article
- Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.Molecular vision · 2020Article
- Cellular imaging of inherited retinal diseases using adaptive optics.Eye (London, England) · 2019Review
- Three cases of acute-onset bilateral photophobia.Japanese journal of ophthalmology · 2019Observational
- Adaptive Optics Retinal Imaging in CNGA3-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability.Investigative ophthalmology & visual science · 2019Article
- Adaptive optics imaging of inherited retinal diseases.The British journal of ophthalmology · 2018Review
- Gene Therapy for Color Blindness.The Yale journal of biology and medicine · 2017Review
- Photoreceptor-Based Biomarkers in AOSLO Retinal Imaging.Investigative ophthalmology & visual science · 2017Review
- Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia.Documenta ophthalmologica. Advances in ophthalmology · 2017Observational
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe 2 most common causative genes for achromatopsia (ACHM) are CNGA3 and CNGB3; other genes including GNAT2 account for only a small portion of ACHM cases. The cone mosaics in eyes with CNGA3 and CNGB3 variants are severely disrupted; the cone mosaics in patients with GNAT2-associated ACHM; however, have been reported to show a contiguous pattern in adaptive optics (AO) retinal images. The purpose of this study was to analyze the cone mosaic of another case of GNAT2-associated ACHM. PATIENT AND
methodsThe patient was a 17-year-old Japanese boy. Comprehensive ocular examinations including fundus photography, electroretinography (ERGs), optical coherence tomography (OCT), and whole-exome analysis were performed. The cone mosaic was recorded with a flood-illuminated AO fundus camera, and the cone density was compared with those of 10 normal control eyes.
resultsThe patient had the typical phenotype of ACHM, and a novel homozygous variant, c.730_743del, in GNAT2 was identified. The fundus did not show any specific abnormalities, and the OCT images showed the presence of the ellipsoid zone. The AO fundus image showed a clearly defined cone mosaic around the fovea. The cone density at 500 μm from the fovea was reduced by 15-30 % as compared with those of the normal eyes.
conclusionsThis is the first description of a Japanese patient with ACHM with a novel GNAT2 variant. The eyes of this patient had a preserved cone structure with loss of function.
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