Congenital Anomalies Flashcards
Whst are the 2 causes of BLUE sclera?
- Osteogenesis imperfecta type I - AD, common
2. Ehlers-Danlos syndrome type VI - AR, rare
CHED or Posterior polymorphous corneal dystrophy has changes at the level of Descemet’s membrane with group vesicles, snail tracks?
PPCD
Haab’s straie are vertical or horizontal and occur in what?
Horizontal or concentric to the limbus in GL.
Deposition of lipid in only a sector of the peripheral cornea and not a/w abnl serum lipid is called?
Arcus Juvenilis
What are the 3 d/o’s that give you blue sclera?
- Brittle cornea syndrome
- Osteogenesis imperfecta type I
- Ehlers-Danolos type 6
Fabry’s and Hunter’s have what type of inheritance pattern?
X linked RECESSIVE
If you have a kid with pseudomembranes, and recurrent pseudo dendrites what should you think of?
Tyrosinemia - AR; treat with dietary restriction in tyrosine and pheynlaline
Megalocornea is a/w what disease and what is the inheritance?
Marfans; X-linked recessive
Alkaptonuria is the inability to metabolize what?
Tyrosine and phenylalaine
What are clinical manifestations of Fabry’s disease?
Corneal Verticillata, periorbital edema, posteior spoke like cataracts, Comma shaped conjunctival anyresums, CME, Retinal vessel dilation
How do you treat Alkaptonuria?
High dose Vit C
Peter’s anomoly is B/L what percentage of the time?
60%
Alkaptonuria lacks what enzyme?
Homogenistic acid (ochronosis)
What are the genetics of anirdia?
- 2/3 familial (AD)
2. 1/3 sporadic - WILMS
Which anterior segment anomaly has sporadic inheritance vs AD?
Peter’s anomaly
