Optic Atrophy 1
Last Posted: Jun 10, 2021
- 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
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