Most of the reported deletions involve 20p12 deletions associated with Alagille syndrome, which is characterized by intrahepatic biliary ductal hypoplasia, peripheral pulmonary artery stenosis, a typical facies with deep set eyes, bossed forehead, posterior embryotoxon
of the eye, and vertebral defects [1-3].
(1) He referred to this abnormality as embryotoxon corneae posterius.
DISCUSSION: Posterior embryotoxon is a congenital anomaly, considered to be a relatively mild disorder and can occur as an isolated defect.
may not be a forme fruste of Axenfeld-Rieger's syndrome.
Her left eye revealed corectopia, with a superiorly displaced oval pupil, moderate conjunctival injection, diffuse dense confluent SPK, a nasal posterior embryotoxon
with no limbal ischemia, and a deep AC.
Axenfeld anomaly also called posterior embryotoxon
, is a congenital anomaly in which Schwalbe's line is anteriorly displaced and is associated with iris bands that extend to the cornea.
Common anterior segment abnormalities include [3-5] iris hypoplasia, corectopia, polycoria, iridocorneal adhesions, posterior embryotoxon
, and glaucoma.
Axenfeld characterized the anomaly which bears his name when he described posterior embryotoxon and iris strands adherent to the anteriorly displaced Schwalbe's line (1920).
Posterior embryotoxon is a clinical and histological term referring to displacement of Schwalbe's line.
In 1920, axenfeld characterised the anomaly which bears his name when he described posterior embryotoxon and iris strands adherent to the anteriorly displaced schwalbe's line (1).
1), eye changes in the form of iris hypoplasia, polycoria (multiple pupils), corectopia (eccentrically placed pupil), posterior embryotoxon (white rim of cornea), which refers to displacement of schwalbe's line anterior to limbus in the cornea.
Axenfeld-Rieger syndrome (ARS) is a rare genetic disease generally with autosomal dominant inheritance characterized by ocular disorders (potentially including iris hypoplasia, corectopia, pseudopolycoria, posterior embryotoxon
, and iris strands connecting to the trabecular meshwork or other angle structure anomalies) resulting in elevated intraocular pressure, sometimes accompanied by craniofacial abnormalities (telecanthus, hypertelorism) or dental defects (small or missing teeth).