An update on the ophthalmic features in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)

Abstract

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.

Retinal telangiectasia-like lesions in a 15-year-old female with Hereditary hemorrhagic telangiectasia – a case report

“…This aspect is also supported by Sindhar et al [5] as they used both fluorescein angiography and OCTA in their study of HHT patients. They also found the highest occurrence of intraocular malformations (78%) and that is probably due to the fact of the different examination modalities [5,9]. Ocular involvement in HHT patients is more common than assumed.…”

“…A recent article by Abdolrahimzadeh et al [9] discusses the different examination modalities of patients and that this may be a factor in the variation between the different frequencies of the retinal abnormalities found amongst studies. This aspect is also supported by Sindhar et al [5] as they used both fluorescein angiography and OCTA in their study of HHT patients.…”