Ocular manifestations of Noonan syndrome

Marin, Lenina da Rocha Pitta; Silva, Felipe Theodoro Bezerra Gaspar Carvalho da; Sá, Luis Carlos Ferreira de; Brasil, Amanda Salem; Pereira, Alexandre C.; Furquim, Isabel; Kim, Chong; Bertola, Débora Romeo

doi:10.3109/13816810.2011.593606

Cited by 19 publications

(16 citation statements)

References 12 publications

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“…Further investigations are required to explore the potential involvement of Shp2 mutations or associated polymorphisms in various retinal indices in both health and disease conditions. Indeed, many patients with Noonan Syndrome, of whom 50% typically harbor PTPN11 gene mutation (Tartaglia et al, 2002 ; Zenker et al, 2004 ), were identified with ocular abnormalities including fundal changes (Marin et al, 2012 ), optic disk excavation, enhanced cup to disk ratio and myopia, symptoms which are associated with higher risk of glaucoma and retinal degeneration (Whitmore, 1992 ; Marin et al, 2012 ; Lee and Sakhalkar, 2014 ). Applying genetic ablation of PTPN11 gene in animal studies resulted in extensive retinal degeneration, cell death and optic neuropathy during various developmental stages highlighting its regulatory function in retinal neuroprotection and progenitor retinal cell fate (Cai et al, 2011 ; Puri and Walker, 2013 ).…”

Section: Role Of Shp2 In Bdnf Mediated Survival Signalingmentioning

confidence: 99%

Regulation of Brain-Derived Neurotrophic Factor and Growth Factor Signaling Pathways by Tyrosine Phosphatase Shp2 in the Retina: A Brief Review

Abbasi

Gupta

Chitranshi

et al. 2018

Front. Cell. Neurosci.

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SH2 domain-containing tyrosine phosphatase-2 (PTPN11 or Shp2) is a ubiquitously expressed protein that plays a key regulatory role in cell proliferation, differentiation and growth factor (GF) signaling. This enzyme is well expressed in various retinal neurons and has emerged as an important player in regulating survival signaling networks in the neuronal tissues. The non-receptor phosphatase can translocate to lipid rafts in the membrane and has been implicated to regulate several signaling modules including PI3K/Akt, JAK-STAT and Mitogen Activated Protein Kinase (MAPK) pathways in a wide range of biochemical processes in healthy and diseased states. This review focuses on the roles of Shp2 phosphatase in regulating brain-derived neurotrophic factor (BDNF) neurotrophin signaling pathways and discusses its cross-talk with various GF and downstream signaling pathways in the retina.

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Section: Role Of Shp2 In Bdnf Mediated Survival Signalingmentioning

confidence: 99%

Regulation of Brain-Derived Neurotrophic Factor and Growth Factor Signaling Pathways by Tyrosine Phosphatase Shp2 in the Retina: A Brief Review

Abbasi

Gupta

Chitranshi

et al. 2018

Front. Cell. Neurosci.

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“…NS is associated with a number of ocular anomalies. These include external features (e.g., ptosis, widely spaced eyes, downward-slanting palpebral fissures) as well as conditions like strabismus and nystagmus (Marin et al 2012). Refractory errors affect about 2/3 of individuals with NS (Lee et al 1992).…”

Section: Visual Processingmentioning

confidence: 99%

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

Pierpont

2015

J Pediatr Neuropsychol

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Noonan syndrome (NS) is a relatively common genetic syndrome with variable features including short stature, congenital heart disease, distinctive facial characteristics, skeletal anomalies, and varying degrees of developmental delay. NS is caused by gene mutations in a cellular signaling pathway that is essential for typical growth and development. Research in the past few decades has revealed that individuals with NS have highly variable neurocognitive and behavioral outcomes. To a certain extent, variability in cognitive functioning depends on the particular gene where a mutation is found; additionally, factors related to medical severity and environmental effects contribute substantially to outcomes. This article contains a systematic review of research on neuropsychological features of NS, including cognition, motor development, language, memory, attention, visual perception, adaptive behavior, social skills, and mental health concerns. Given the wide variety of possible cognitive and behavioral complications associated with NS, it is recommended that clinical neuropsychological evaluation of cognitive, adaptive, and psychological domains of functioning should be standard of care for all individuals with NS. Suggested considerations for assessment of individuals with NS are provided. The paper concludes with recommendations for educational and therapeutic interventions, as well as suggestions for future research directions.

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“…Anterior segment changes consisting of: Prominent corneal nerves, anterior stromal dystrophy, cataracts, and panuveitis. [ 17 18 ] Fundus changes including ONHD, optic disc hypoplasia, coloboma, and myelinated nerves. The diagnosis of Noonan syndrome is made purely on clinical grounds.…”

Section: Discussionmentioning

confidence: 99%

“…The diagnosis of Noonan syndrome was confirmed by the consultant pediatricians and clinical geneticists. [ 18 19 ]…”

Section: Discussionmentioning

confidence: 99%

Bilateral optic nerve head drusen with chorioretinal coloboma in the right eye

2016

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Chorioretinal coloboma is a congenital defect of the eye caused by improper closure of the embryonic fissure. Optic nerve head drusen (ONHD) are white calcareous deposits that are generally asymptomatic. We report a very rare association of both in a healthy patient with no any systemic syndrome. A 16-year-old man was referred to our clinic from suffering blurred vision. Best corrected visual acuity of the right eye was 6/10 and 10/10 in the left one. External ocular and slit lamp examination were normal. Dilated ophthalmoscopy showed marked swelling in both optic nerves and chorioretinal coloboma in the right eye inferiorly. Ultrasonography showed an echodense structure with acoustic shadowing in both eyes consistent with buried ONHD. Visual field testing showed normal field in the left eye and moderate superior field depression in the right eye corresponding to inferior coloboma in funduscopy. Results of general medical and neurologic, cardiologic, and other examinations were normal. To the best our knowledge combination of bilateral ONHD and unilateral chorioretinal coloboma in a healthy patient with no any systemic syndrome has not been published in the literature. We reported this very rare association and recommended examine eyes and other body organs. In such cases that coloboma is associated with ONHD, we should keep in mind Noonan syndrome. The diagnosis of Noonan syndrome is clinical and confirm by the consultant pediatricians and clinical geneticists.

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Ocular manifestations of Noonan syndrome

Abstract: The current study further supports the finding that ocular symptoms account for a large fraction of the clinical manifestations of NS. Additional characteristics are described here. The roles for the various mutations of PTPN11 in ocular development are yet to be established.

Cited by 19 publications

References 12 publications

Regulation of Brain-Derived Neurotrophic Factor and Growth Factor Signaling Pathways by Tyrosine Phosphatase Shp2 in the Retina: A Brief Review

Regulation of Brain-Derived Neurotrophic Factor and Growth Factor Signaling Pathways by Tyrosine Phosphatase Shp2 in the Retina: A Brief Review

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

Bilateral optic nerve head drusen with chorioretinal coloboma in the right eye

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