A child with multiple absent extraocular muscles

Hart, Jane; Quinn, Anthony G.; Taylor, David

doi:10.1016/j.jaapos.2004.10.008

Cited by 5 publications

(2 citation statements)

References 19 publications

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“…There are however clinical reports of absence of ocular muscles. 1,44,45 Interestingly in heterozygous Pitx2 þ /À mice, superior, and inferior oblique muscles are affected, but the rectus muscles are less affected showing a differential effect of the gene dose. 46 Later expression differences include the fact that Pitx2, but not Foxc1 is expressed in the corneal stroma; whereas both genes are expressed in the trabecular meshwork 42 (Figure 1b).…”

Section: Developmental Mechanisms Of Anterior Segment Dysgenesismentioning

confidence: 99%

Molecular and developmental mechanisms of anterior segment dysgenesis

Sowden

2007

Eye

139

102

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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. Several different 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.

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Section: Developmental Mechanisms Of Anterior Segment Dysgenesismentioning

confidence: 99%

Molecular and developmental mechanisms of anterior segment dysgenesis

Sowden

2007

Eye

139

102

View full text Add to dashboard Cite

show abstract

“…[1][2][3][4][5] We report a 5-yearold girl who had posteriorly malinserted lateral rectus at 15 mm from the limbus in the right eye with multiple associated ocular and systemic congenital malformations.…”

mentioning

confidence: 99%