OMIM ID:
Anterior Segment Mesenchymal Dysgenesis
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
The unique status of this entity remains to be established as there are overlapping features with aniridia (106210), and Peters anomaly (604229), posterior embryotoxon, and iridogoniodysgenesis type 1 (601631) and type 2 (137600). Anterior segment mesenchymal dysgenesis itself is clinically heterogeneous even within families. Schwalbe line is often anteriorly placed and there may be iris adhesions to the cornea, with or without corneal opacities. Some patients have microcornea. All layers of the cornea are dysplastic from the epithelium to the endothelium suggesting abnormal migration or function of neural crest cells. Lens opacities are highly variable but they can be progressive. Curiously, elevated intraocular pressure is usually not present. Visual acuity is highly variable with some patients having 20/20 vision and others bare hand motions depending on the degree of opacification of the lens and cornea.
Systemic Features
No systemic abnormalities are present.
Genetics
Inheritance
This is an autosomal dominant disorder secondary to mutations in either PITX3 (10q24.32) or FOXE3 (1p32) which are both transcription factors. The latter gene is also mutant in congenital primary aphakia (610256) and some cases of Peters anomaly (604229).
See also Anterior Segment Dysgenesis 6 (617315) and Anterior Segment Dysgenesis 8 (617319) for autosomal recessive conditions in which mutations result in malformations of the anterior chamber.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission