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buphthalmos
Summary
- Synonym
-
- primary congenital glaucoma 3A
- simple buphthalmos
- Definition
- A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.
- Super Class
- hydrophthalmos
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11344 | Tyrosinase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000572 | Visual loss |
| HP:0000501 | Glaucoma |
| HP:0001052 | Nevus flammeus |
| HP:0000541 | Retinal detachment |
| HP:0012108 | Open angle glaucoma |
| HP:0000603 | Central scotoma |
| HP:0007854 | Glaucomatous visual field defect |
| HP:0000525 | Abnormality iris morphology |
| HP:0007906 | Ocular hypertension |
| HP:0000587 | Abnormal optic nerve morphology |
