Isolated optic nerve hypoplasia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr: 137902
OMIM Id: 165550
ICD-10: H47.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Optic neuropathy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000609) Optic nerve hypoplasia 26 / 7739
2
(HPO:0012521) Optic nerve aplasia 1 / 7739
3
(HPO:0000505) Visual impairment 297 / 7739
4
(HPO:0007663) Reduced visual acuity 100 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Concentric peripapillary halos 1 / 7739
7
(OMIM) Small discs 1 / 7739
8
(HPO:0012795) Abnormality of the optic disc 187 / 7739
9
(OMIM) Wandering eye movements 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Optic nerve hypoplasia is the most common congenital anomaly of the optic disc (Birkebaek et al., 2003). It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete ...
Molecular genetics OMIM Azuma et al. (2003) identified mutations in the PAX6 gene in patients with bilateral optic nerve hypoplasia (607108.0018) and aplasia (607108.0020).