Developmental Eye Disorders Flashcards
Genetic pediatric glaucoma is caused by…
primary malformation of the travecular meshwork
Children before the age of 5 with glaucoma tend to have symptoms, however, children >5 do not and often it is not recognizued unitl…
irreversible vision loss
Primary Congenital Glaucoma
* usual inheritance pattern
* most common gene
* recommendation if no gene found
- AR
- CYP1B1 more common in Midddle East than in US
- in absence of gene diagnosis all siblings shoudl be examined in the 1st week of life to ensure early detection
Which aneuploidy is associated with eye anomalies?
Trisomy 21
Patients with aniridia can present with nsytagmus. They have a 50% risk for what condition, so should be followed closely?
glaucoma
also cataract risk
When an infant has an ocular malformation, can this predict vision in the future?
NO
Aniridia
* gene
* inheritance
- PAX6
- AD
WAGR syndrome is associted with
* Wilms tumor
* Aniridia
* Genitourinary
* Restriction of growth
aniridia
Testing to order for aniridia
- if infant or suspect WAGR = SNP microarray or FISH for deletions
- PAX6 sequencing and del/dup analysis
- DCDC1 and ELP4 deletion
* some labs offer panel for all of the above
Peter’s anomaly seuquence
- “scleracornea”
- lens fails to form from surface ectoderm following induction by optic vesicle
- leads to neural crest cells secondarily unable to migrate to complete formation of cornea and/or segment structures
Peter’s anomaly patients have a 50% risk for …
glaucoma
Axenfield-Rieger spectrum characteristics
- anterior segment ocular findings
- glaucoma risk
- dental anomalies
- HL
- heart defects
- AD
- FOXC! or PTX2
MAC stands for
Microphthalmia
Anophthalmia
Coloboma
Axenfield Reiger
- belly button
- teeth
- iris/eyes
MAC
- keyhole iris
- maternal vit A deficiency during pregnancy can cause temporary night blindess
