• Mashup Score: 2

    Summary A 53-year-old female presented to a tertiary ophthalmology referral centre complaining of unilateral painless loss of vision. Subsequent assessment revealed malignant hypertension causing right-sided cystoid macular oedema. During the course of secondary hypertension workup, she was diagnosed with a 7.8 cm phaeochromocytoma which was resected. Testing for a panel of all predisposing…

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    • Read this interesting case from Clare Miller et al. detailing #pheochromocytoma due to a novel SDHD variant presenting as unilateral visual loss. https://t.co/cFi5CbDwNY Authored by @ESEndocrinology members https://t.co/fAy9TUUOcg

  • Mashup Score: 0

    Background Traditional genotype-phenotype correlations for the succinate dehydrogenase-complex II (SDH) genes link SDHB variants to thoracic-abdominal pheochromocytoma-paraganglioma (PPGL) and SDHD variants to head and neck paraganglioma (HNPGL). However, in a recent study we found strong and specific genotype-phenotype associations for SDHD variants. In the present study we zoom in on the…

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    • #SDHB variant type impacts phenotype & malignancy in #pheochromocytoma #paraganglioma ▶️https://t.co/WgnY7SiYXf #NeuroendocrineTumors #NETs #CancerGenetics #Cancer #RareDisease @KvdTuin @PheoPara @UKINETS @ncukcharity @CureNETs @CNETSCanada @NECancerAus Pic: @theNCI https://t.co/WGEDs0vwzv