Optic Atrophy 1
What's New
Last Posted: Jun 18, 2024
- Prenatal exome sequencing for morphologically normal fetus: Should we be doing it?
Zhi Gao et al. Prenat Diagn 2024 - Clinical and Genetic Profile of Leber's Hereditary Optic Neuropathy in a Cohort of Patients From a Tertiary Eye Care Center.
Bhate Manjushree et al. Journal of pediatric ophthalmology and strabismus 2022 1-6 - Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Charif Majida et al. Brain communications 2021 3(2) fcab063 - Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Canda Ebru et al. Pediatric health, medicine and therapeutics 2020 11127-133 - The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing.
Wang Dan-Dan et al. Frontiers in genetics 2019 101217 - Analysis of Inherited Optic Neuropathies.
Lazdinyte Simona et al. Klinische Monatsblatter fur Augenheilkunde 2019 Mar - The Oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders.
Patel Aara et al. Ophthalmology 2019 Jan - [Genetic Causes and Genetic Diagnostic Testing of Inherited Optic Atrophies].
Wissinger Bernd et al. Klinische Monatsblatter fur Augenheilkunde 2018 Nov 235(11) 1235-1241 - CLINGEN Actionability Report for Mucopolysaccharidosis type I-IDUA
ClinGen Actionability Working Group - Genetic Testing in Pediatric Ophthalmology.
Verma Ishwar Chander et al. Indian journal of pediatrics 2017 Oct - Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to OPA1 mutation status.
Gaier Eric D et al. Molecular vision 2017 23548-560 - Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar Mark B et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Apr 17(4) 253-261 - Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.
Tsai Fang-Chih et al. Journal of the Chinese Medical Association : JCMA 2017 Mar - High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.
Collet Marie, et al. European journal of human genetics : EJHG 2016 0 0. (8) 1112-6 - Autosomal dominant optic atrophy and cataract
From NCATS Genetic and Rare Diseases Information Center - Autosomal dominant optic atrophy plus syndrome
From NCATS Genetic and Rare Diseases Information Center - Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy
From NCATS Genetic and Rare Diseases Information Center - Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
From NCATS Genetic and Rare Diseases Information Center - Dominant optic atrophy
From NCATS Genetic and Rare Diseases Information Center - Optic atrophy 1
From NCATS Genetic and Rare Diseases Information Center - Optic atrophy 1 and deafness
From NCATS Genetic and Rare Diseases Information Center - Optic atrophy 2
From NCATS Genetic and Rare Diseases Information Center - Optic atrophy 5
From NCATS Genetic and Rare Diseases Information Center - Optic atrophy 6
From NCATS Genetic and Rare Diseases Information Center - Optic atrophy opthalmoplegia ptosis deafness myopia
From NCATS Genetic and Rare Diseases Information Center - Optic atrophy polyneuropathy deafness
From NCATS Genetic and Rare Diseases Information Center - Short stature with optic atrophy and Pelger-Huët anomaly syndrome
From NCATS Genetic and Rare Diseases Information Center
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- 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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