Proliferative retinopathy in Cowden syndrome

Mansoor, Qasim; Steel, David

doi:10.1136/bcr.11.2011.5273

Cited by 7 publications

(9 citation statements)

References 5 publications

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“…3 The presence of retinal astrocytoma in our patient may function as evidence that PHTS and TS can be linked through a common pathway. 1,[3][4][5] The degree of morbidity from retinal astrocytic hamartoma depends on lesion size, location, associated exudation, and presence of retinal detachment and/or neovascular glaucoma; the presence of the retinal hamartoma may not necessarily cause ocular morbidity. Generally, patients who have one or more retinal astrocytomas tend to have no visual symptoms, unless the tumor involves the macula.…”

Section: Discussionmentioning

confidence: 51%

“…Retinal astrocytoma has not previously been described in association with PHTS. [1][2][3] Heterozygous mutations in other genes in the PI3K/ PTEN/AKT/TSC/mTORC1-signaling pathway are also known to cause segmental overgrowth, hamartomas, and malignant tumors. This includes tuberous sclerosis (TS) caused by a heterozygous mutation in the TSC1 or TSC2 gene.…”

Section: Discussionmentioning

confidence: 99%

“…More peripheral and small lesions may be followed periodically, whereas those concerning for growth may warrant treatments such as laser photocoagulation or cryotherapy. 1,[3][4][5][6] Various ocular imaging studies are also useful during assessment of retinal glial lesions. Shields et al describe the distinctive characteristics between astrocytic hamartomas and retinal astrocytic proliferation when imaged with spectral domain OCT. Characteristics of retinal astrocytomas include origin within the nerve fiber layer with moth-eaten calcific nodules.…”

Section: Discussionmentioning

confidence: 99%

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Retinal astrocytoma in a young male with PTEN hamartoma tumor syndrome

Khanna

Statler

Chen

et al. 2019

Journal of American Association for Pediatric Ophthalmology and

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Section: Discussionmentioning

confidence: 51%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Retinal astrocytoma in a young male with PTEN hamartoma tumor syndrome

Khanna

Statler

Chen

et al. 2019

Journal of American Association for Pediatric Ophthalmology and

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“…Various optic abnormalities have been described in patients with PTEN syndrome such as optic nerve head drusen,9 proliferative retinopathy,10 and choroidal schwannoma 11. Schneider et al described a patient with CS who had bilateral posterior uveitis 12…”

Section: Discussionmentioning

confidence: 99%

Intermediate uveitis in a child with phosphatase and tensin homolog gene mutation and Bannayan-Riley-Ruvalcaba syndrome

Prat¹,

Mizrachi²,

Vishnevskia‐Dai³

2019

BMJ Case Rep

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Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a congenital disorder characterised by macrocephaly, multiple hamartomas, lipomas, and pigmented macules of the glans penis. Intermediate uveitis is characterised by chronic inflammatory cells aggregates on the pars plana (snowbanks) and within the vitreous cavity (snowballs). We describe what we believe to be the first case of intermediate uveitis associated with BRRS. Early examination under anaesthesia should be considered in the management of young children diagnosed with this syndrome in order to provide appropriate ocular evaluation, treatment and follow-up. Further research is needed to establish a better understanding of the ophthalmic manifestations of this syndrome.

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“…Clinically, germline mutations in PTEN have also been associated with Bannayan-Riley-Ruvalcaba syndrome, Proteus or Proteus-like syndrome, adult Lhermitte-Duclos disease and autism-like disorders [6]. Gicquel et al [7] reported a possible correlation of CS with retinal angioma and, more recently, Mansoor and Steel [8] described a case report of proliferative retinopathy in CS. We report the case of a young female patient affected by CS, who complained of ocular discomfort and epiphora.…”

Section: Introductionmentioning

confidence: 99%

Corneal Confocal Microscopy Anomalies Associated with Cowden Syndrome: A Case Report

Sbordone

Savastano²,

Savastano³

et al. 2013

Case Rep Ophthalmol

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Purpose: To describe bilateral corneal alterations through confocal microscopy in a patient affected by Cowden syndrome (CS). Methods: Evaluation of Schirmer's, fluorescein, and lissamine green dye tests. Confocal microscopy was performed in both eyes to investigate corneal abnormalities. Results: Slit lamp observation showed the focal involvement of anterior stromal and epithelial layers. Schirmer's, fluorescein, and lissamine green dye test results were regular, while corneal confocal examination confirmed the disorganization of anterior stromal and epithelial layers in both eyes. Conclusion: CS is a rare autosomal-dominant systemic disorder. In our case, confocal analysis revealed predominance of alterations in the anterior stromal corneal layer, showing an increase of reflectivity, and a totally unstructured architecture in the epithelium layer. Even though the main purpose remains the prevention and the early diagnosis of different systemic tumors that could occur in affected patients, corneal confocal evaluation could play an important role in the early diagnosis of this rare disease.

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Proliferative retinopathy in Cowden syndrome

Cited by 7 publications

References 5 publications

Retinal astrocytoma in a young male with PTEN hamartoma tumor syndrome

Retinal astrocytoma in a young male with PTEN hamartoma tumor syndrome

Intermediate uveitis in a child with phosphatase and tensin homolog gene mutation and Bannayan-Riley-Ruvalcaba syndrome

Corneal Confocal Microscopy Anomalies Associated with Cowden Syndrome: A Case Report

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