Anterior segment mesenchymal dysgenesis

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Anterior segment mesenchymal dysgenesis
Other names: Anterior segment dysgenesis (ASD)
Anterior segment mesenchymal dysgenesis is inherited in an autosomal dominant manner.

Anterior segment mesenchymal dysgenesis, or simply anterior segment dysgenesis (ASD), is a failure of the normal development of the tissues of the anterior segment of the eye. It leads to anomalies in the structure of the mature anterior segment, associated with an increased risk of glaucoma and corneal opacity.

Peters' (frequently misspelled as Peter's) anomaly is a specific type of mesenchymal anterior segment dysgenesis, in which there is central corneal leukoma, adhesions of the iris and cornea and abnormalities of the posterior corneal stroma, Descemet's membrane, corneal endothelium, lens and anterior chamber.[1]

Signs and symptoms

a) Shows the severely affected right eye with peripheral sclerocornea b) shows the mildly affected left eye, with peripheral corneal stromal opacity c) shows childs eyes without upper and with lower a colored contact lens in the right eye to mask the corneal opacity

The clinical presentation of this condition is as follows:[2]


Several gene mutations have been identified underlying these anomalies, with the majority of ASD genes encoding transcriptional regulators. In this review, the role of the ASD genes, PITX2 and FOXC1, is considered in relation to the embryology of the anterior segment, the biochemical function of these proteins, and their role in development and disease aetiology. The emerging view is that these genes act in concert to specify a population of mesenchymal progenitor cells, mainly of neural crest origin, as they migrate anteriorly around the embryonic optic cup. These same genes then regulate mesenchymal cell differentiation to give rise to distinct anterior segment tissues. Development appears critically sensitive to gene dosage, and variation in the normal level of transcription factor activity causes a range of anterior segment anomalies. Interplay between PITX2 and FOXC1 in the development of different anterior segment tissues may partly explain the phenotypic variability and the genetic heterogeneity characteristic of ASD. In the most recent research, the PAX6 gene has been implicated in Peters' Anomaly [3]


The diagnosis of this condition, Anterior segment mesenchymal dysgenesis is done via the following:[4]


Management is based on monitoring for glaucoma and pupillary dilation using topical phenylephrine [4]


This congenital anomaly was first described by German ophthalmologist Albert Peters (1862–1938).[5]


  1. Pomella, K. M.; Wagner, H. (1998). "Unilateral Peters' anomaly complicated by a corneal tattoo". Optometry and Vision Science. 75 (9): 635–639. doi:10.1097/00006324-199809000-00017. PMID 9778695.
  2. "Anterior segment dysgenesis". GARD. Archived from the original on 15 May 2021. Retrieved 8 July 2022.
  3. Sault, R. W., & Sheridan, J. (2013). Peters’ Anomaly. Ophthalmology and Eye Diseases, 5, 1–3.
  4. 4.0 4.1 "Peters Anomaly - EyeWiki". Archived from the original on 25 May 2022. Retrieved 8 July 2022.
  5. doctor/3158 at Who Named It?

External links

External resources