Autosomal recessive optic atrophy, OPA6 type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OPTIC ATROPHY, CONGENITAL OR EARLY INFANTILE, AUTOSOMAL RECESSIVE OPA6 Congenital or early infantile optic atrophy |
| Number of Symptoms | 12 |
| OrphanetNr: | 99012 |
| OMIM Id: |
258500
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| ICD-10: |
H47.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
Infantile onset [Omim] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive isolated optic atrophy
-Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000642) | Red-green dyschromatopsia | 25 / 7739 | ||||
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(HPO:0000613) | Photophobia | 158 / 7739 | ||||
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(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
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(HPO:0000505) | Visual impairment | 297 / 7739 | ||||
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(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
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(OMIM) | No retinal degeneration | 1 / 7739 | ||||
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(OMIM) | Visual acuity for distant vision ranges from 1/10 to 2/10 as adult | 1 / 7739 | ||||
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(HPO:0003677) | Slow progression | 134 / 7739 | ||||
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(OMIM) | Optic atrophy, isolated | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
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(OMIM) | Photophobia, moderate | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Barbet et al. (2003) reported a consanguineous family of French origin in which 4 sibs were affected with early-onset, slowly progressive isolated optic atrophy. All complained of visual impairment beginning between ages 2 and 6 years. Detailed examination ... |