children Flashcards
Primary congenital glaucoma - gene
CYP1B1
Primary congenital glaucoma - procentowo, M czy F
true congenital glaucoma 40%, infantile 55% prior to 3yo
Which sedative lower IOP less than others
ketamine
normal IOP in sedated
10-12 mmHg
corneal diameter and c/d
> 12 mm >1yo is suspicious. c/d>3 suspicious
trabeculodysgenesis in gonioscopy
anteriorly located iris insertion and a hypoplastic-appearing peripheral iris
congenital glaucoma - triad
watering (epiphora), photophobia, blepharospasm
Haab’s striae
horizontal breaks in the Descemet membrane
Axenfeld-Rieger syndrome - definition, risk of glaucoma, genes
defective neural crest cell-related processes during fetal development. 50% risk of glaucoma. FOXC1, PITX2, RIEG2, PAX6, may sporadic but when family history common AD
Axenfeld anomaly
posterior embryotoxon with attached strands of peripheral iris
Rieger anomaly
posterior embryotoxon, iris stromal hypoplasia, ectropion uveae, corectopia, full-thickness iris defects
Rieger syndrome
dental anomalies (hypodontia, microdontia), facial anomalies (maxillary hypoplasia, broad nasal bridge, telecanthus, hypospadias, hearing loss), cardiac, renal anomalies
Peters anomaly - cause, gene, types, proc glaucoma, prognosis
defective neural crest cell migration. most sporadic. type 1 - cornea alone. type 2 - cornea + lens. glaucoma 50%. prognosis worse than primary congenital glaucoma
Gillespie syndrome - gene, składowe
AR, not PAX6, aniridia, cerebellar ataxia, mr
Aniridia - cause, gene and associations
abnormal neuroectoderm, 2/3 AD. PAX6 adjacent to WT1. sporadic-WARG/Miller syndrome (Wilms, Aniridia, retardation, genitourinary abnormalities). >5yo USG every 3m., >10 every 6m., >16yo every year.
