Genetics of Strabismus

Whitman, Mary C.; Engle, Elizabeth C.

doi:10.1007/978-3-030-42634-7_287

Cited by 4 publications

(6 citation statements)

References 131 publications

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“…Abducens fibers depend on Shh and other genes for differentiation of neurons in r5 of mice [69,84,[103][104][105][106]. Downstream, Sall4 is found in mice [97,107].…”

Section: Abducens Fibersmentioning

confidence: 99%

“…In contrast to CNVI, innervation of CNIII is unaffected by Hoxa3/b3 and Mafb [69,97,103]. Likewise, Hoxa1 loss-of-function deletions results in aberrant innervation of the abducens [111] interacting with Sall4 [105,107]. Conversely, loss of Lmx1b, Wnt1 and Phox2a, which eliminates CNIII and CNIV, results in an expansion of CNVI to innervate the denervation of remaining extraocular muscles [85,86,112], showing a plasticity in the residual innervation.…”

Section: Abducens Fibersmentioning

confidence: 99%

“…Eye alignment and movement requires the coordination of the six extraocular muscles (EOMs) which are innervated by the three ocular nerves CNIII, IV and VI in humans [49,105]. CNIII divides into a superior branch which innervates the superior rectus (SR) and levator palpebrae (LP) muscles; the motor neurons are born ipsilateral to the muscles they innervate, but then the SR motor neurons migrate across the floor plate and the levator palpebrae MNs migrate to the floor plate to innervate the contralateral SR or, bilaterally, the levator palpebrae muscles.…”

Section: Congenital Cranial Dysinnervation Disorders (Ccdd) In Humansmentioning

confidence: 99%

“…Further work detailing the complete absence or partial deletions of PHOX2A would be helpful. Abbreviations: CFEOM1-3, congenital fibrosis of the extraocular muscles; DRS, Duane retraction syndrome [105].…”

Section: Cfeom2: Phox2amentioning

confidence: 99%

“…By contrast, CHN1 and Epha4 knock-out mice have abducens axon wandering distinct from the CHN1 knock-in mice and do not have DRS. In addition, several guidance molecules help to fine tune abducens axon guidance, including Epha2, Efna5, various Sema's, Nrp1 and PlexinA, among others [105]. Further work is needed to consolidate guidance across all ocular motoneurons.…”

Section: Duane Retraction Syndrome (Drs)mentioning

confidence: 99%

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Evolution and Development of Extra-Ocular Nerves and Muscles in Vertebrates

Fritzsch¹

2023

Preprint

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Extraocular eye muscles (EOMs) are innervated by axons of three ocular motor nuclei, the oculomotor (CNIII), trochlear (CNIV), and abducens (CNVI) neurons. The purpose of this review is to analyze the origin of ocular motor neurons, define the pattern of innervation of nerve fibers that project to the EOMs, pro-vide an overview of vestibular pathway inputs to ocular motor nuclei, and describe congenital disorders that alter the development of ocular motor neurons. Oculomotor neurons originate in the midbrain and innervate the ipsilateral orbit, except for the superior rectus and the levator palpebrae which are contra-laterally innervated. Trochlear motor neurons originate at the midbrain-hindbrain junction and innervate the contralateral superior oblique muscle. Abducens motor neurons originate variously in the rhombomeres r4-6 and innervate the posterior (or lateral) rectus muscle and innervate the retractor bulbi. Genes allow yielding a distinction between special somatic (CNIII, IV) and somatic (CNVI) ocular motor neurons. The ocular motor neurons are innervating somites, which receive innervates vestibular nuclei that connects with the brainstem motor neurons. Development of ocular motor neurons and their axonal projections to the EOMs may be derailed by various genetic causes, resulting in the congenital cranial dysinnervation disorders.

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“…Abducens fibers depend on Shh and other genes for differentiation of neurons in r5 of mice [69,84,[103][104][105][106]. Downstream, Sall4 is found in mice [97,107].…”

Section: Abducens Fibersmentioning

confidence: 99%

Section: Abducens Fibersmentioning

confidence: 99%

Section: Congenital Cranial Dysinnervation Disorders (Ccdd) In Humansmentioning

confidence: 99%

Section: Cfeom2: Phox2amentioning

confidence: 99%

Section: Duane Retraction Syndrome (Drs)mentioning

confidence: 99%

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Evolution and Development of Extra-Ocular Nerves and Muscles in Vertebrates

Fritzsch¹

2023

Preprint

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Motor neurons are dispensable for the assembly of a sensorimotor circuit for gaze stabilization

Goldblatt,

Rosti,

Hamling

et al. 2024

Preprint

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Sensorimotor reflex circuits engage distinct neuronal subtypes, defined by precise connectivity, to transform sensation into compensatory behavior. Whether and how motor neuron populations specify the subtype fate and/or sensory connectivity of their pre-motor partners remains controversial. Here, we discovered that motor neurons are dispensable for proper connectivity in the vestibular reflex circuit that stabilizes gaze. We first measured activity following vestibular sensation in pre-motor projection neurons after constitutive loss of their extraocular motor neuron partners. We observed normal responses and topography indicative of unchanged functional connectivity between sensory neurons and projection neurons. Next, we show that projection neurons remain anatomically and molecularly poised to connect appropriately with their downstream partners. Lastly, we show that the transcriptional signatures that typify projection neurons develop independently of motor partners. Our findings comprehensively overturn a long-standing model: that connectivity in the circuit for gaze stabilization is retrogradely determined by motor partner-derived signals. By defining the contribution of motor neurons to specification of an archetypal sensorimotor circuit, our work speaks to comparable processes in the spinal cord and advances our understanding of general principles of neural development.

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Motor neurons are dispensable for the assembly of a sensorimotor circuit for gaze stabilization

Goldblatt,

Rosti,

Hamling

et al. 2024

eLife

View full text Add to dashboard Cite

Sensorimotor reflex circuits engage distinct neuronal subtypes, defined by precise connectivity, to transform sensation into compensatory behavior. Whether and how motor neuron populations specify the subtype fate and/or sensory connectivity of their pre-motor partners remains controversial. Here, we discovered that motor neurons are dispensable for proper connectivity in the vestibular reflex circuit that stabilizes gaze. We first measured activity following vestibular sensation in premotor projection neurons after constitutive loss of their extraocular motor neuron partners. We observed normal responses and topography indicative of unchanged functional connectivity between sensory neurons and projection neurons. Next, we show that projection neurons remain anatomically and molecularly poised to connect appropriately with their downstream partners. Lastly, we show that the transcriptional signatures that typify projection neurons develop independently of motor partners. Our findings comprehensively overturn a long-standing model: that connectivity in the circuit for gaze stabilization is retrogradely determined by motor partner-derived signals. By defining the contribution of motor neurons to specification of an archetypal sensorimotor circuit, our work speaks to comparable processes in the spinal cord and advances our understanding of general principles of neural development.

show abstract

Genetics of Strabismus

Cited by 4 publications

References 131 publications

Evolution and Development of Extra-Ocular Nerves and Muscles in Vertebrates

Evolution and Development of Extra-Ocular Nerves and Muscles in Vertebrates

Motor neurons are dispensable for the assembly of a sensorimotor circuit for gaze stabilization

Motor neurons are dispensable for the assembly of a sensorimotor circuit for gaze stabilization

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