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

• Published in: BMC ophthalmology 2022-11, Vol.22 (1), p.1-425, Article 425
• Main Authors: Ala, Ardiana, Sarensen, Torben Lykke, Laugesen, Caroline Schmidt
• Format: Article
• Language: English
• Subjects: Acuity; Age; Angiography; Atrophy; Case Report; Case reports; Complaints; Diabetes; Diabetes mellitus (insulin dependent); Diabetic retinopathy; Eye diseases; Family medical history; Health aspects; Hemorrhage; Hereditary hemorrhagic telangiectasia; Lesions; Medical imaging; Medical research; Medicine, Experimental; Ophthalmology; Outpatient care facilities; Patients; Rendu-Osler-Weber; Retina; Retinal abnormalities; Retinal telangiectasia; Telangiectasis; Tomography; Type 1 diabetes
• ISSN: 1471-2415; 1471-2415
• DOI: 10.1186/s12886-022-02658-7

Background Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome is a bleeding disorder that can affect all parts of the body including the eyes. Different ocular abnormalities have been described in relation to HHT, but the pathogenesis of retinal involvement is still unknown. A few cases have described chorioretinal abnormalities primarily occurring in elderly patients. In this study, we present a unique case of a young female with known HHT and a series of retinal fundus images including optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) with macular telangiectasia-like lesions. Case presentation A young female genetically diagnosed with hereditary hemorrhagic telangiectasia (HHT), is regularly attending retinal screening since she is diagnosed with Type 1 diabetes. At one visit, abnormal retinal telangiectasia-like lesions in the macula, are observed. These abnormalities are monitored over an extended period of time with fundus imaging, and further investigated with OCT and OCTA. The patient has no visual complaints at any time and best-corrected visual acuity is 20/20 Snellen equivalent in both eyes. Conclusions To the best of our knowledge, this is the first case to describe the occurrence of telangiectasia-like lesions in macula with secondary choriocapillaris atrophy in a patient diagnosed with HHT in such a young age. Keywords: Hereditary hemorrhagic telangiectasia, Rendu-Osler-Weber, Retinal telangiectasia, Retinal abnormalities, Case report