Primäres erbliches Glaukom (PCG)
Primary congenital glaucoma (PCG)
General description
Glaucoma is a leading cause of blindness due to characteristic damage to the retinal ganglion cells and optic nerve. Elevated intraocular pressure, globe enlargement and elongated ciliary processes were consistently observed in all affected cats by 8 weeks of age.
Breeds
Siamese
Order details
| Test number | 8395 |
| Abbreviation | PCG |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | from birth |
| Causality | causally |
| Gene | LTBP2 |
| Mutation | INS |
| Literature | OMIA:002017-9685 |
Detailed description
Glaucoma is a leading cause of blindness due to characteristic damage to the retinal ganglion cells and optic nerve. In domestic cats a mutation in LTBP2 causes primary congenital glaucoma (PCG). Elevated intraocular pressure, globe enlargement and elongated ciliary processes were consistently observed in all affected cats by 8 weeks of age. Varying degrees of optic nerve damage resulted by 6 months of age.
