Genetic Basis of Congenital Strabismus

Engle, Elizabeth C.

doi:10.1001/archopht.125.2.189

Cited by 69 publications

(45 citation statements)

References 82 publications

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“…Most of the genes were downregulated in the visually deprived retina, confirming a reduced maturation of the retinal tissue and pointing to a genetic basis of postnatal visual-deprivation-induced amblyopia [61] . Transcripts of several enzymes, crystallins and immunoglobulin binding [62] were found to be regulated.…”

Section: Discussionmentioning

confidence: 72%

Postnatal Visual Deprivation in Rats Regulates Several Retinal Genes and Proteins, Including Differentiation-Associated Fibroblast Growth Factor-2

et al. 2014

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Little is known about the retinal cellular basis of amblyopia, which is a developmental disease characterized by impaired visual acuity. This study examined the retinal transcripts associated with experimentally induced unilateral amblyopia in rats. Surgical tarsorrhaphy of the eyelids on one side was performed in pups prior to eye opening at postnatal day 14, thereby preventing any visual experience. This condition was maintained for over 2 months, after which electroretinograms (ERGs) were recorded, the retinal ganglion cell (RGC) arrangement and number were determined using neuroanatomical tracing, the retinal transcripts were studied using microarray analysis, regulated mRNAs were confirmed with quantitative reverse-transcriptase PCR, and proteins were stained using Western blotting and immunohistochemistry. An attenuated ERG was found in eyes that were deprived of visual experience. Retrograde neuroanatomical staining disclosed a larger number of RGCs within the retina on the visually deprived side compared to the non-deprived, control side, and a multilayered distribution of RGCs. At the retinomic level, several transcripts associated with retinal differentiation, such as fibroblast growth factor 2 (FGF-2), were either up- or downregulated. Most of the transcripts could be verified at the mRNA level. To unravel the role of a differentiation-associated protein, we tested FGF-2 in dissociated postnatal retinal cell cultures and found that FGF-2 is a potent factor triggering ganglion cell differentiation. The data suggest that visual experience shapes the postnatal retinal differentiation, whereas visual deprivation induces changes at the functional, cellular and molecular levels within the retina.

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Section: Discussionmentioning

confidence: 72%

Postnatal Visual Deprivation in Rats Regulates Several Retinal Genes and Proteins, Including Differentiation-Associated Fibroblast Growth Factor-2

et al. 2014

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“…The underlying gene defects lead to errors at various developmental stage and locations along the developing neuroaxis, including predicted errors in hindbrain segmentation (HOXA1), motoneuron specification (PHOX2A), and axon targeting (CFEOM1, ROBO3). 49 …”

Section: Genetics Of Congenital Strabismusmentioning

confidence: 99%

Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs)

Assaf

2011

Eye

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“…Thus, deciphering the genetics of strabismus is a challenging task requiring researchers to employ a variety of strategies. There are a number of excellent articles that have reviewed the genetics of comitant strabismus including one by Engle in 2007. 1 In this current manuscript, we will focus on developments in the field since that time.…”

Section: Introductionmentioning

confidence: 99%

An Update on the Genetics of Comitant Strabismus

Kruger

Mansouri

Cestari

2013

Seminars in Ophthalmology

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Genetics play a significant role in the development of comitant strabismus and elucidating the relevant mechanisms that cause it may lead to the development of new therapeutic options. The genetics of strabismus are complex and involve the interactions of multiple genes. This article reviews the progress that has been made in the understanding of the genetic causes of comitant strabismus including linkage studies that have identified a variety of candidate sites, RNA and protein studies that have identified genes with altered regulation, and a study that establishes a role for genetic imprinting in comitant strabismus.

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Genetic Basis of Congenital Strabismus

Cited by 69 publications

References 82 publications

Postnatal Visual Deprivation in Rats Regulates Several Retinal Genes and Proteins, Including Differentiation-Associated Fibroblast Growth Factor-2

Postnatal Visual Deprivation in Rats Regulates Several Retinal Genes and Proteins, Including Differentiation-Associated Fibroblast Growth Factor-2

Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs)

An Update on the Genetics of Comitant Strabismus

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