It is characterized by anterior segment dysgenesis and systemic abnormalities.
INHERITANCE PATTERN
AD
FACE AND FACIAL SYMMETRY
Facial bone defects - Hypertelorism, telecanthus, maxillary hypoplasia, and a broad, flat nasal bridge.
Dental – microdontia, oligodontia or hypodontia.
IRIS AND PUPIL
Iris strands adherent to the anteriorly displaced Schwalbe’s line – may be fine thread-like or broad-based.
Iris Hypoplasia/atrophy
Corectopia
polycoria
LENS
Posterior Embryotoxon – Anteriorly displaced Schwalbe’s Line
POSTERIOR SEGMENT
Signs of Glaucoma
IOP
Glaucoma occurs in about 50 percent of cases. it results from the development arrest of the neural crest cells with their retention in the anterior chamber angle during gestation, resulting in incomplete development of the trabecular meshwork or Schlemm canal.
FELLOW EYE
Similar Condition as the disease is bilateral.
SYSTEMIC CONDITIONS
Umbilical abnormalities – redundant umbilical skin
Pituitary abnormalities
Hypospadias
Anal stenosis growth retardation
Cardiovascular abnormalities
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