Expression of FGFR-2 and FGFR-3 in the normal human fetal orbit

Clues from Crouzon: Insights into the potential role of growth factors in the pathogenesis of myelinated retinal nerve fibers

“…In mice, however, CNS myelination by oligodendrocytes requires FGFR2, 20 and in vitro analysis has demonstrated that FGFR2 helps regulate oligodendrocyte process growth 21 . Expression of FGFR2 and its ligands has also been detected in the human and mouse optic nerve and retina 22, 23, 24. This molecular link between developmental anomalies in Crouzon syndrome and myelination in animal and in vitro models may indicate that an overactivation of FGFR2 signaling might be associated with abnormal regulation of myelination.…”

“…Structural abnormalities of the LC may therefore permit oligodendrocyte access to the retina, leading to intraretinal myelination 9 . Khan et al postulate that FGFR2 overactivity in Crouzon syndrome may be associated with accumulation of abnormal fibrous tissue at the LC 22 . This might lend a further explanation for the potential link between Crouzon syndrome and MRNF.…”

Fibrous Band between Extraocular Muscles in Unilateral Coronal Synostosis

“…Therefore, unilateral coronal synostosis is frequently associated with development of strabismus, most typically superior oblique (SO) palsy on the ipsilateral side of the synostosis [1][2][3]. However, contrary to syndromic craniosynostosis, anomalies of the extraocular muscle structure themselves have not been reported in unilateral coronal synostosis [4]. We report a case of unilateral coronal synostosis and SO palsy with a fibrous band, which was found intraoperatively to course between extraocular muscles.…”

“…It is well known that there is a high prevalence of anomalies of the extraocular muscles in syndromic craniosynostosis, such as those related to Crouzon, Apert, or Pfeiffer syndrome [4]. Mutations in fibroblast growth factor receptor (FGFR) 2 are mostly responsible for syndromic craniosynostosis, and FGFR-2 has been reported to be predominantly expressed within extraocular muscles [4]. However, a mutation in the FGFR-3 gene is responsible for some cas-es of unilateral coronal synostosis.…”

Connecting raised intracranial pressure and cognitive delay in craniosynostosis: many assumptions, little evidence

“…Unfortunately, the assumption that an ICP capable of producing papilledema is the same as that with the potential to harm the brain fails to take into account the very different pathophysiological mechanisms involved, 29,45 the variable anatomy of the optic nerve sheath, and the effects of (mutated) FGFR2 receptors described within it 41 and, of course, its low sensitivity in children under the age of 8 years.…”