Nystagmus in Children

Brodsky, Michael C.

doi:10.1007/978-0-387-69069-8_8

Cited by 5 publications

(1 citation statement)

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“…Given the complete blindness, congenital nystagmus, and absent pupillary light reflexes, we investigated optic nerve defects as the primary anatomical basis for NCRNA pathology. Nystagmus is common in children with severe optic nerve malformations 24 , and it is thought to arise from unbalanced sensory input to central autonomic centers controlling gaze, and a failure to calibrate oculomotor systems. The pupillary light reflex is triggered by rare photosensitive RGCs, which relay signals to the cortex of the olivary pretectal nuclei via the optic nerves.…”

Section: Resultsmentioning

confidence: 99%

Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease

et al. 2011

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Individuals with nonsyndromic congenital retinal nonattachment (NCRNA) are totally blind from birth. The disease afflicts ~1% of Kurdish people living in a group of neighboring villages in North Khorasan, Iran. We show NCRNA is caused by a 6523bp deletion that spans a remote cis regulatory element 20 kb upstream from ATOH7 (Math5), a bHLH transcription factor gene required for retinal ganglion cell (RGC) and optic nerve development. In humans, the absence of RGCs stimulates massive neovascular growth of fetal blood vessels within the vitreous, and early retinal detachment. The remote ATOH7 element appears to act as a secondary or ‘shadow’ transcriptional enhancer. It has minimal sequence similarity to the primary enhancer, which is close to the Atoh7 promoter, but drives transgene expression with an identical spatiotemporal pattern in the mouse retina. The human transgene also functions in zebrafish, reflecting deep evolutionary conservation. These dual enhancers may reinforce Atoh7 expression during early critical stages of eye development when retinal neurogenesis is initiated.

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Section: Resultsmentioning

confidence: 99%