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Isolated optic nerve hypoplasia

1 OMIM reference -
1 associated gene
No signs/symptoms info

COMMON GENES: 1

Isolated aniridia

1 OMIM reference -
1 associated gene
8 signs/symptoms

Isolated optic nerve hypoplasia

Isolated aniridia

PAX6

(UniProt - OMIM)

PAX6

(UniProt - OMIM)


COMMON GENES	PAX6

Citations in the biomedical literature:

Isolated optic nerve hypoplasia		Isolated aniridia

	Classification (Orphanet): - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Diseases of the eye and adnexa -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Isolated aniridia
	Very frequent - Aniridia / iris hypoplasia - Autosomal dominant inheritance - Macular dystrophy / absence / hypoplasia of the macula - Nystagmus - Visual loss / blindness / amblyopia Frequent - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Glaucoma
Isolated optic nerve hypoplasia
(no data available)