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. Genetic Heterogeneity of Optic AtrophyOptic atrophy-2 (OPA2 ) maps to chromosome Xp11.4-p11.21. OPA3 (OMIM ) is caused by mutation in the OPA3 gene (OMIM ) on chromosome 19q13. OPA4 (OMIM ) maps to chromosome 18q12.2-q12.3. OPA5 (OMIM ) is caused by mutation in the DNM1L gene (OMIM ) on chromosome 12p11. OPA6 (OMIM ) maps to chromosome 8q21-q22. OPA7 (OMIM ) is caused by mutation in the TMEM126A gene (OMIM ) on chromosome 11q14. OPA8 (OMIM ) maps to chromosome 16q21-q22. OPA9 (OMIM ) is caused by mutation in the ACO2 gene (OMIM ) on chromosome 22q13; OPA10 (OMIM ) is caused by mutation in the RTN4IP1 gene (OMIM ) on chromosome 6q21; and OPA11 (OMIM ) is caused by mutation in the YME1L1 gene (OMIM ) on chromosome 10p12.

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.

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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?


Optic Atrophy 1; Opa1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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