Coloboma of choroid and retina

General Information (adopted from Orphanet):

Synonyms, Signs: COLOBOMA, UVEORETINAL
COLOBOMA OF IRIS, CHOROID, AND RETINA
COI
Number of Symptoms 3
OrphanetNr: 98942
OMIM Id: 120200
ICD-10: Q14.8
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: Ocular coloboma
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0007748) Irido-fundal coloboma 3 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
(OMIM) Coloboma of iris, choroid and retina 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Typical isolated ocular coloboma is a congenital abnormality caused by defective closure of the embryonic fissure of the optic cup. The defect is typically located in the inferonasal part of the iris. Gregory-Evans et al. (2004) provided a ...
Molecular genetics OMIM Azuma et al. (2003) identified a mutation in the PAX6 gene (607108.0019) in a 1-year-old boy who had iris anomaly, large coloboma of the optic nerve (120430), retina, and choroid, a remnant of hyaloid vessel proliferation (persistent hyperplastic ...
Population genetics OMIM The estimated prevalence of coloboma is 1 in 10,000 (Stoll et al., 1997).