Coloboma of optic nerve

A coloboma similar to autosomal dominant ocular coloboma (OMIM: 120200) both eyes are usually affected and it is frequently associated with detachment of the MACULA LUTEA and RETINA. Mutations in the PAX6 gene have been identified in some cases. OMIM: 120430

Also Known As:

Congenital coloboma of the optic nerve; Optic nerve coloboma; Optic nerve head pits, bilateral congenital

Eye Diseases: 3620
- Eye Abnormalities: 96
  - Coloboma: 487
    - Coloboma of optic nerve: 14
- Hereditary Eye Diseases: 19
  - Coloboma: 487
    - Coloboma of optic nerve: 14
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Eye Abnormalities: 96
    - Coloboma: 487
      - Coloboma of optic nerve: 14
Nervous System
- Peripheral Nervous System
  - Peripheral Nerves
    - Cranial Nerves
      - Optic Nerve
        Coloboma of optic nerve: 14

G S Manligas Selected Research

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Disease

Therapy/Procedure