J. Richard O. Collin

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Heterozygous, de novo, loss-of-function mutations in SOX2 have been shown to cause bilateral anophthalmia. Here we provide a detailed description of the clinical features associated with SOX2 mutations in the five individuals with reported mutations and four newly identified cases (including the first reported SOX2 missense mutation). The SOX2-associated(More)
The optic chiasm is one of the most popular models for studying axon guidance. Here axons make a key binary decision either to cross the midline to innervate the contralateral hemisphere or to remain uncrossed. In rodents, midline interactions between axons from the two eyes are critical for normal development, as early removal of one eye systematically(More)
Trichiasis is the sight-threatening consequence of conjunctival scarring in trachoma, the most common infectious cause of blindness worldwide. Trachomatous trichiasis is the result of multiple infections from childhood with Chlamydia trachomatis, which causes recurrent chronic inflammation in the tarsal conjunctiva. This produces conjunctival scarring,(More)
There is a long-standing association between wound healing and cancer, with cancer often described as a "wound that does not heal". However, little is known about how wounding, such as following surgery, biopsy collection or ulceration, might impact on cancer progression. Here, we use a translucent zebrafish larval model of Ras(G12V)-driven neoplasia to(More)
OBJECTIVE To evaluate higher-order kinematic analysis, a technique not previously applied to surgical skills assessment, as a tool for elucidating patterns of movement. METHODS An observational cohort study of 27 subjects, divided into 3 equal groups based on surgical experience consisting of novice (performed <5 prior procedures), intermediate (performed(More)
The authors report the 10-year follow-up of a case with a recurrent ptosis affecting both eyelids independently. The histology of the levator palpebrae superioris and Müller's muscle was consistent with a localised myopathic process. A therapeutic response to acetazolamide suggests that ion-channel dysfunction may be the underlying cause for this new(More)
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