Optic Atrophy 1; Opa1
Description
Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density (Votruba et al., 1998).Some patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see {125250}. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).Yu-Wai-Man et al. (2009) provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON ), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders.
Clinical Features
Top most frequent phenotypes and symptoms related to Optic Atrophy 1; Opa1
- Hearing impairment
- Ataxia
- Strabismus
- Sensorineural hearing impairment
- Visual impairment
- Peripheral neuropathy
- Hyperreflexia
- Optic atrophy
- Blindness
- Myopathy
And another 30 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Based on the latest data available OPTIC ATROPHY 1; OPA1 have a estimated prevalence of 3.3 per 100k in Europe.— No data available about the known clinical features onset.
Alternative names
Optic Atrophy 1; Opa1 Is also known as kjer-type optic atrophy, optic atrophy, kjer type, oak, optic atrophy, juvenile.
Researches and researchers
Doctors, researchs, and experts related to Optic Atrophy 1; Opa1 extracted from public data.
Optic Atrophy 1; Opa1 Experts map
Current Researchs and researchers
-
NEWCASTLE UPON TYNE — Dr Patrick YU WAI MAN
Investigator of research project
-
Institution/s:
— Newcastle University Institute for Ageing (NUIA), Newcastle Biomedicine -
Research area/topic::
What disease mechanisms contribute to multisystem tissue involvement in dominant optic atrophy due to OPA1 mutations?
-
Institution/s:
Optic Atrophy 1; Opa1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
OPA1 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
OPA1
Specificity
100 %
Genes
100 % |
OPA1 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
OPA1
Specificity
100 %
Genes
100 % |
OPA1 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
OPA1
Specificity
100 %
Genes
100 % |
mtDNA Depletion/Integrity Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories (United States).
SLC25A4, SUCLA2, SUCLG1, SUCLG2, TWNK, TK2, MGME1, RRM2B, DGUOK, TYMP, MPV17, OPA1, OPA3, POLG, POLG2
Specificity
7 %
Genes
100 % |
PEO Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories (United States).
SLC25A4, TWNK, MGME1, RRM2B, OPA1, OPA3, POLG, POLG2
Specificity
13 %
Genes
100 % |
OPA1 DNA Sequencing Test (Related to mtDNA depletion).
By Athena Diagnostics Inc (United States).
OPA1
Specificity
100 %
Genes
100 % |
Progressive External Ophthalmoplegia Evaluation (POLG, TWINKLE, ANT1, OPA1, MELAS).
By Athena Diagnostics Inc (United States).
SLC25A4, TWNK, MT-TL1, OPA1, POLG
Specificity
20 %
Genes
100 % |
You can get up to 99 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SINGLETON-MERTEN SYNDROME 2; SGMRT2 VAN BUCHEM DISEASE, TYPE 2 PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2 CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY PITT-HOPKINS SYNDROME; PTHS DESMOSTEROLOSIS