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IEMbase 0416: OPA1-related childhood-onset optic atrophy type 1

Scope

Field Value
IEMbase ID 416
Nosology 19.2.01.02
Gene OPA1
External IDs OMIM:165500; ORPHA:98673
Generated mapping UNMAPPED; low candidate Autosomal_Dominant_Optic_Atrophy_Plus.yaml
Candidate DisMech targets Partial context in Autosomal_Dominant_Optic_Atrophy_Plus.yaml
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents OPA1-related childhood-onset optic atrophy type 1, also called juvenile optic atrophy. It records autosomal dominant inheritance and no treatment rows. The phenotype is primarily ophthalmic: characteristic optic atrophy, vision-loss onset, temporal optic nerve pallor, color vision deficit, and scotomata, with nystagmus and strabismus as additional rows.

DisMech phenotype coverage

Local Autosomal_Dominant_Optic_Atrophy_Plus.yaml captures the OPA1 mechanism, retinal ganglion cell degeneration, progressive bilateral optic atrophy, temporal disc pallor, dyschromatopsia, centrocecal scotoma, and visual loss since childhood. It therefore provides strong mechanistic and phenotype context for this record.

However, the local disease target is explicitly the syndromic OPA1 plus/DOA plus entity, with extra-ocular sensorineural deafness, ataxia, neuropathy, ophthalmoplegia, mitochondrial myopathy, and spastic paraplegia. IEMbase 416 is the childhood/juvenile optic atrophy type 1 record without those plus features.

Concordance and completeness

Judgement: partial context but not an exact mapping; pure OPA1 childhood-onset optic atrophy remains a local gap or lump/split decision.

The core OPA1 optic neuropathy phenotypes are highly concordant, but the local file's disease identity is a syndromic plus phenotype. Mapping IEMbase 416 to it would overstate extra-ocular involvement unless the project intentionally decides to use one OPA1-spectrum entry for both pure and plus presentations.

Curation actions

  • Treat Autosomal_Dominant_Optic_Atrophy_Plus.yaml as context for OPA1 mechanism and optic atrophy phenotypes.
  • Keep exact mapping pending a pure OPA1/ADOA childhood-onset optic atrophy target, or an explicit subtype structure inside the OPA1 spectrum entry.
  • If curated, include autosomal dominant OPA1, childhood/juvenile onset, optic atrophy, temporal pallor, color vision deficit, scotomata, vision loss, nystagmus, and strabismus.