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

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 stil...

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Bibliographic Details
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
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Summary: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
ISSN:1471-2415
1471-2415
DOI:10.1186/s12886-022-02658-7