An update on the ophthalmic features in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).
Solmaz AbdolrahimzadehMartina FormisanoCarla MaraniSiavash RahimiPublished in: International ophthalmology (2022)
Hereditary haemorrhagic telangiectasia (HHT) or Osler-Rendu-Weber syndrome is a rare autosomal dominant disease, characterised by systemic angiodysplasia. Dysfunction of the signalling pathway of β transforming growth factor is the main cause of HHT principally owing to mutations of the genes encoding for endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1). Clinical manifestations can range from mucocutaneous telangiectasia to organ arterio-venous malformations and recurrent epistaxis. The early clinical manifestations may sometimes be subtle, and diagnosis may be delayed. The main ophthalmic manifestations historically reported in HHT are haemorrhagic epiphora, and conjunctival telangiectasia present in 45-65% of cases, however, imaging with wide-field fluorescein angiography has recently shown peripheral retinal telangiectasia in 83% of patients. Optimal management of HHT requires both understanding of the clinical presentations and detection of early signs of disease. Advances in imaging methods in ophthalmology such as wide-field fluorescein angiography, spectral domain optical coherence tomography, and near infrared reflectance promise further insight into the ophthalmic signs of HHT towards improved diagnosis and early management of possible severe complications.
Keyphrases
- optical coherence tomography
- transforming growth factor
- diabetic retinopathy
- end stage renal disease
- high resolution
- newly diagnosed
- ejection fraction
- chronic kidney disease
- computed tomography
- optic nerve
- case report
- peritoneal dialysis
- early onset
- machine learning
- gene expression
- prognostic factors
- magnetic resonance
- risk factors
- genome wide
- deep learning
- binding protein
- signaling pathway
- drug induced
- fluorescence imaging
- transcription factor
- chemotherapy induced