Microphtalmia (RBP4-related) – Irish Soft Coated Wheaten Terrier
Kodas: H631
Short description
Microphthalmia belongs to a group of congenital eye malformations.
General information
Microphthalmia belongs to a group of congenital eye malformations. An amino acid deletion in the retinol-binding protein 4 (RBP4) can cause of the disease. Normal RBP4 carries vitamin A from hepatic stores to peripheral tissues, like the placenta and eye. It is used as substrate for synthesis of retinoic acid, an important molecule for tissue development. The eye is most sensitive to impaired synthesis of retinoic acid and vitamin A deficiency is a known risk factor for ocular birth defect.
Specifications
| Breeds | |
|---|---|
| Gene | RBP4 |
| Chromosome | 28 |
| Mutation | c.90_92del |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive with Incomplete Penetrance |
Clinical features
Microphthalmia is characterised by a unilateral (one-sided) or bilateral (both-sided) reduction in eye size. Symptoms develop at a young age and will be visible shortly after opening of the eyes.
Additional information
It is an autosomal recessive trait, it is only expressed, when both dam and offspring are deletion homozygotes. Only if maternal and fetal RBP4 mutations are homozygous, the vitamin A level is reduced below the threshold for expression of the disease in the offspring.
References
Pubmed ID: 29847795
Year published: 2018
Omia ID: 2151
Omia variant ID:
Turnaround information
- 10 working days