GENETICS - Ocular Conditions and HLA types Flashcards
HLA Associations
1. Birdshot choroidoretinitis
2. Presumed Ocular histoplasmosis syndrome / MS
3. Sarcoidosis/Intermediate uveitis
4. Idiopathic ant uveitis, psoriatic, ank spond, Reiter’s, IBD
5. Retinal vasculitis
6. Behcet’s disease
7. Juvenile RA, VKH syndrome, sympathetic ophthalmia
- Birdshot - HLA-A29
- POHS - B7, DR2. MS - B7, DR2, DR15
- Sarcoidosis / IU - HLA-B8
- Idopathic AU, psoriatic, AS, Reiter’s, IBD - HLAB27
- Retinal vasculitis - B44
- Behcet’s - B51
- JRA, VKH, SO - DR4
What chromosome codes HLA antigen?
Chromosome 6
HLA Class I Antigens vs
HLA Class II Antigens
Class I : all nucleated cells, allows CD8+ cytotoxic T cells to recognise and eliminate virus infected cells
Class II: macrophages, dendritic cells, B cells, endothelial cells, allows initiation of immune response by interaction with T-helper CD4+ cells
What are the mutations associated with these glaucoma conditions?
- Pseudoexfoliation
- Axenfeld-Reiger syndrome
- Juvenile onset glaucoma
- Congenital glaucoma
- Normal tension glaucoma
- pseudo-exfoliation - pseudo locks on your eyes LOXL-1
- Axenfeld-Reiger syndrome - Fox and Pit are in Axenfeld FOXC1 or PITX2
- Juvenile onset glaucoma - GLC1A (MYOC)
- Congenital glaucoma - babies are always cyp-ing CYP1B1
- Ocular Hypertension -* optics* OPT
Where is the retinoblastoma gene found?
Rb gene on 13q
What gene is the cause of aniridia? Where is the gene located?
PAX-6
Chromosome 11 (Autosomal dominant)
What type of inheritance does retinitis pigmentosa have? What genes are the cause for which type?
- Autosomal dominant - RHO gene on chromosome 3.
- X-linked - RP2 and RPGR
What gene is linked to Startgart’s disease?
ABCA-4 transporter
What conditions are implicated with PAX-6 mutation (6)
4 As and A PC
1. Aniridia
2. Anophthalmia
3. Axenfeld-Reiger syndrome
4. Anterior segment dysgenesis
5. Peter’s anomaly
6. Congenital glaucoma
