Autosomal Dominant Optic Atrophy Plus Syndrome

Description

Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA; see this term) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.

Clinical Features

Phenotypes and symptoms related to Autosomal Dominant Optic Atrophy Plus Syndrome

  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment
  • Optic atrophy
  • Reduced tendon reflexes
  • Decreased nerve conduction velocity
  • Abnormality of color vision
  • Impaired pain sensation
  • Abnormality of visual evoked potentials

Incidence and onset information

— Based on the latest data available AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME have a estimated prevalence of 0.4 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Autosomal Dominant Optic Atrophy Plus Syndrome Is also known as doa+, optic atrophy-deafness-polyneuropathy-myopathy syndrome.

Researches and researchers

Doctors, researchs, and experts related to Autosomal Dominant Optic Atrophy Plus Syndrome extracted from public data.

Autosomal Dominant Optic Atrophy Plus Syndrome Experts map



Current Researchs and researchers

  • PADOVA — Pr Luca SCORRANO

    Investigator of research project

    • Institution/s:
      — Venetian Institute of Molecular Medicine
    • Research area/topic::

      Extending the Optic atrophy 1 dependent cristae remodeling: from models to a therapy of autosomal dominant optic atrophy



Mendelian

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Autosomal Dominant Optic Atrophy Plus Syndrome 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 %

We have 99 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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