Early-onset X-linked Optic Atrophy

Description

Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.

Clinical Features

Top most frequent phenotypes and symptoms related to Early-onset X-linked Optic Atrophy

  • Intellectual disability
  • Peripheral neuropathy
  • Dysarthria
  • Optic atrophy
  • Tremor
  • Babinski sign
  • Glaucoma
  • Reduced visual acuity
  • Abnormality of the nervous system
  • Pallor

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Early-onset X-linked Optic Atrophy Is also known as optic atrophy, non-leber type, with early onset, optic atrophy type 2, opa2, non-leber type optic atrophy with early-onset, optic atrophy, x-linked.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Genetic Syndrome Finder

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