Ophthalmological Aspects of Pierson Syndrome

Bredrup, Cecilie; Matejas, Verena; Barrow, Margaret; Bláhová, Květa; Böckenhauer, Detlef; Fowler, Darren J.; Gregson, R; Maruniak‐Chudek, Iwona; Medeira, Ana; Mendonça, Érica; Kagan, Mikhail; Koenig, Jens; Krastel, H.; Kroes, Hester Y.; Saggar, Anand; Sawyer, Taylor; Schittkowski, Michael; Swietliński, Janusz; Thompson, Dorothy; VanDeVoorde, René G.; Wittebol–Post, D.; Woodruff, Geoffrey; Zurowska, Aleksandra; Hennekam, Raoul C. M.; Zenker, Martin; Russell‐Eggitt, Isabelle

doi:10.1016/j.ajo.2008.05.039

Cited by 70 publications

(63 citation statements)

References 14 publications

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“…A wide range of ocular anomalies has been described in patients with loss-offunction LAMB2 mutations, microcoria being the most characteristic lesion [11], usually caused by underdevelopment or dysfunction of the dilator pupillae muscle of the iris. In our patient, residual laminin protein expression can be assumed.…”

Section: Discussionmentioning

confidence: 99%

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR

Lehnhardt

Lama

Amann³

et al. 2012

Pediatr Nephrol

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Section: Discussionmentioning

confidence: 99%

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR

Lehnhardt

Lama

Amann³

et al. 2012

Pediatr Nephrol

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“…Mutations in human LAMB2 result in severe renal disease coupled to multiple ocular defects including lens malformation and cataract. 60 Similarly, mutations in zebrafish lama1, lamb1, and lamc1 genes result in retinal lamination and lens defects including ectopic position of the lens within the retina, loss of lens capsule integrity, and lens fragmentation, highlighting the importance of laminin in lens development and structural integrity. 25,61 Extracellular matrix-dependent myosin dynamics also contribute to the cytoskeletal organisation of the lens.…”

Section: Cataractmentioning

confidence: 99%

The zebrafish eye—a paradigm for investigating human ocular genetics

Richardson¹,

Tracey‐White²,

Webster

et al. 2016

Eye

153

162

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Although human epidemiological and genetic studies are essential to elucidate the aetiology of normal and aberrant ocular development, animal models have provided us with an understanding of the pathogenesis of multiple developmental ocular malformations. Zebrafish eye development displays in depth molecular complexity and stringent spatiotemporal regulation that incorporates developmental contributions of the surface ectoderm, neuroectoderm and head mesenchyme, similar to that seen in humans. For this reason, and due to its genetic tractability, external fertilisation, and early optical clarity, the zebrafish has become an invaluable vertebrate system to investigate human ocular development and disease. Recently, zebrafish have been at the leading edge of preclinical therapy development, with their amenability to genetic manipulation facilitating the generation of robust ocular disease models required for large-scale genetic and drug screening programmes. This review presents an overview of human and zebrafish ocular development, genetic methodologies employed for zebrafish mutagenesis, relevant models of ocular disease, and finally therapeutic approaches, which may have translational leads in the future.

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“…Pierson syndrome has been shown to be a consequence of mutations in LAMB2, and a multigenerational mennonite family with Pierson syndrome and mutations in LAMB2 has both chorioretinal pigmentary changes and abnormal retinal vascular development (Mohney et al, 2011). Other individuals with mutations in LAMB2 and Pierson syndrome exhibit retinal vascular defects (Bredrup et al, 2008). Recent reports also suggest a possibility of the role of various genetic mutations in other diseases, such as familial exudative vitreoretinopathy and retinopathy of prematurity (Dickinson et al, 2006).…”

Section: Laminins Are Necessary For Retinal Vascular Developmentmentioning

confidence: 99%

Laminins containing the β2 and γ3 chains regulate astrocyte migration and angiogenesis in the retina

et al. 2013

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SUMMARYPathologies of retinal blood vessels are among the major causes of blindness worldwide. A key cell type that regulates retinal vascular development is the astrocyte. Generated extrinsically to the retina, astrocytes migrate into the retina through the optic nerve head. Even though there is a strong correlation between astrocyte distribution and retinal vascular development, the factors that guide astrocytes into the retina remain unclear. In this study, we show that astrocytes migrate within a laminin-containing basement membrane -the inner limiting membrane. Genetic deletion of the laminin β2 and γ3 chains affects astrocyte migration and spatial distribution. We show that laminins act as haptotactic factors in vitro in an isoform-specific manner, inducing astrocyte migration and promoting astrocyte differentiation. The addition of exogenous laminins to laminin-null retinal explants rescues astrocyte migration and spatial patterning. Furthermore, we show that the loss of laminins reduces β1 integrin expression in astrocytes. Culturing lamininnull retinal astrocytes on laminin substrates restores focal localization of β1 integrin. Finally, we show that laminins containing β2 and γ3 chains regulate subsequent retinal blood vessel growth and maintain vascular integrity. These in vivo and in vitro studies demonstrate clearly that laminins containing β2 and γ3 chains are indispensable for migration and spatial organization of astrocytes and that they play a crucial role during retinal angiogenesis in vivo. RESEARCH ARTICLELaminins regulate angiogenesis treatment with exogenous laminins rescues astrocyte migration and spatial patterning phenotype ex vivo. Together, these data support the hypothesis that β2-and γ3-containing laminins are important cues in retinal vascular development.

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Ophthalmological Aspects of Pierson Syndrome

Cited by 70 publications

References 14 publications

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR

The zebrafish eye—a paradigm for investigating human ocular genetics

Laminins containing the β2 and γ3 chains regulate astrocyte migration and angiogenesis in the retina

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