Axenfeld-Rieger Syndrome (ARS) is a genetic that affects the anterior segment of the eye and which has systemic manifestations.


(1) PITX2: at 4q25

(2) FOXC1: at 6p25


Inheritance: autosomal dominant


Ocular findings associated with anterior segment dysgenesis:

(1) heterochromia

(2) aniridia

(3) coloboma of the iris

(4) corectopia

(5) pseudopolycoria

(6) corneal vascularization

(7) corneal hydrops

(8) persistent papillary membrane

(9) corneal opacities

(10) secondary glaucoma


Systemic findings (more common with FOXC1):

(1) dental defects (mandibular prognathism, hypodontia, microdontia, oligodontia)

(2) mild craniofacial malformations (midface hypoplasia, hypertelorism, telecanthus, prominent forehead, broad nasal bridge)

(3) umbilical anomalies (redundant periumbilical skin)

(4) variable malformations of the cardiac valves

(5) variable endocrine anomalies (pituitary)

(6) variable sensorineural hearing loss

(7) variable hypospadia in males

(8) variable anal stenosis

(9) variable growth retardation

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