Coats-plus syndrome: when imaging leads to genetic diagnosis

Maia, Carolina; Batista, Mariana; Palavra, Filipe; Pinto, Joana Marques

doi:10.1136/bcr-2022-249702

Cited by 4 publications

(3 citation statements)

References 3 publications

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“…Typical initial presentations include gastrointestinal bleeding, seizures, developmental delay, and bone fractures. [4][5][6] Because CPS is rare, the best treatment for CPS retinopathy is unknown. In a recent article published in this journal, Sears et al 24 reviewed treatments of infants with CPS including laser photocoagulation; cryotherapy; intravitreal antivascular endothelial growth factor injections; intraocular, periocular, and systemic steroids; and surgery.…”

Section: Discussionmentioning

confidence: 99%

“…Typical initial presentations include gastrointestinal bleeding, seizures, developmental delay, and bone fractures. 4 –6…”

Section: Discussionmentioning

confidence: 99%

“…Of the 30 cases of CPS in the literature, 2 –23 only 3 presented in patients older than 18 years; those patients were 19 years old, 21 years old, and 23 years old. 21 –23 We report a 38-year-old woman with a complex medical history and fluorescein angiographic evidence of severe bilateral retinal capillary nonperfusion with retinal arteriolitis who had genetic testing that confirmed the diagnosis of CPS.…”

Section: Introductionmentioning

confidence: 99%

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Coats Plus Syndrome Presenting in an Adult

Kayarian

Cohen

et al. 2023

Journal of VitreoRetinal Diseases

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Purpose: To present a case of retinal vascular disease characterized primarily by capillary nonperfusion in an adult with Coats plus syndrome (CPS). Methods: A case and its findings were analyzed. Results: A 38-year-old woman with a history of poliosis, thrombocytopenia, seizures, and white-matter brain lesions was referred for evaluation of bilateral blurred central vision. Fluorescein angiography showed extensive bilateral retinal capillary nonperfusion with retinal arteriolitis in the right eye. Genetic testing found 2 pathological mutations in the conserved telomere maintenance component 1 ( CTC1) gene, diagnostic of CPS. Conclusions: Genetic testing may be diagnostic in patients who present with retinal vascular disease and systemic disease suggestive of CPS.

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Section: Discussionmentioning

confidence: 99%

“…Typical initial presentations include gastrointestinal bleeding, seizures, developmental delay, and bone fractures. 4 –6…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Coats Plus Syndrome Presenting in an Adult

Kayarian

Cohen

et al. 2023

Journal of VitreoRetinal Diseases

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Neuroimaging of Ocular Abnormalities in Children

Aygun

Biswas

Taranath

et al. 2023

Neuroimaging Clinics of North America

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Telomere biology disorders: from dyskeratosis congenita and beyond

Roka,

Solomou,

Kattamis

et al. 2024

Postgraduate Medical Journal

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Defective telomerase function or telomere maintenance causes genomic instability. Alterations in telomere length and/or attrition are the primary features of rare diseases known as telomere biology disorders or telomeropathies. Recent advances in the molecular basis of these disorders and cutting-edge methods assessing telomere length have increased our understanding of this topic. Multiorgan manifestations and different phenotypes have been reported even in carriers within the same family. In this context, apart from dyskeratosis congenita, disorders formerly considered idiopathic (i.e. pulmonary fibrosis, liver cirrhosis) frequently correlate with underlying defective telomere maintenance mechanisms. Moreover, these patients are prone to developing specific cancer types and exhibit exceptional sensitivity and toxicity in standard chemotherapy regimens. The current review describes the diverse spectrum of clinical manifestations of telomere biology disorders in pediatric and adult patients, their correlation with pathogenic variants, and considerations during their management to increase awareness and improve a multidisciplinary approach.

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Coats-plus syndrome: when imaging leads to genetic diagnosis

Cited by 4 publications

References 3 publications

Coats Plus Syndrome Presenting in an Adult

Coats Plus Syndrome Presenting in an Adult

Neuroimaging of Ocular Abnormalities in Children

Telomere biology disorders: from dyskeratosis congenita and beyond

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