Achromatopsia 3
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Last Posted: Sep 03, 2024
- Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Pam A T Heutinck, et al. Investigative ophthalmology & visual science 2024 0 (10) 40 - HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis.
Li Huang, et al. Retina (Philadelphia, Pa.) 2023 0 (1) 117-126 - Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia.
Maria Solaki, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 0 100979 - Clinical and Genetic Features of Korean Patients with Achromatopsia.
Choi Yong Je, et al. Genes 2023 0 (2) - Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.
Burkard Markus, et al. The Journal of clinical investigation 2018 0 (12) 5663-5675 - Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Weisschuh Nicole, et al. Human mutation 2019 0 (1) 255-264 - Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Felden Julia, et al. Human mutation 2019 0 (8) 1145-1155 - Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.
Sun Wenmin, et al. Molecular vision 2020 0 588-602 - PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.
Daich Varela Malena, et al. Investigative ophthalmology & visual science 2020 0 (12) 1 - Phenotypes and genotypes underlying paradoxical pupillary reaction in children.
Khan Arif O, et al. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2022 0 (4) 205-207 - Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki Maria, et al. Human mutation 2022 0 (7) 832-858 - Molecular genetic cause of achromatopsia in two patients of Czech origin.
Hlavatá L, et al. Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti 2020 0 (5) 272-276 - Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Kuht Helen J, et al. Ophthalmology 2022 0 (6) 708-718 - Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.
Weisschuh Nicole, et al. Human mutation 2018 8 - Novel CNGA3 mutations in Chinese patients with achromatopsia.
Liang Xiaofang, et al. The British journal of ophthalmology 2015 4 (4) 571-6 - Achromatopsia 2
From NCATS Genetic and Rare Diseases Information Center - Achromatopsia 3
From NCATS Genetic and Rare Diseases Information Center - Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
Thiadens AA, et al. Ophthalmology 2009 7 - CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Kohl Susanne, et al. European journal of human genetics : EJHG 2005 3 (3) 302-8
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
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- Microcephaly
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- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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