I78.0
Conditions
Interventions
Group 1: Non-interventional observational study:
All enrolled adult patients with Osler’s disease (hereditary hemorrhagic telangiectasia, HHT) will undergo systematic evaluation without any therapeuti
Sponsors
Klinik für Augenheilkunde, Universitätsklinikum des Saarlandes UKS
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Inclusion criteria
Inclusion criteria: - Diagnosis of Osler’s disease according to the Curaçao criteria - Written informed consent from the patient - Presentation at the ENT clinic or via contact with the HHT patient support group
Exclusion criteria
Exclusion criteria: - Lack of consent or individuals unable to provide consent - Pregnancy - No performance of FLA/ICG in cases of: allergy to contrast agents (e.g., fluorescein/ICG), severely impaired renal function, significantly reduced cardiac function
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| * Visual acuity and intraocular pressure as functional ocular parameters. * Assessment of clinically visible neovascularizations of the conjunctiva and retina, with photographic documentation of vascular alterations. * Analysis of vascular changes using OCT-A: superficial capillary plexus density, perfusion density, foveal avascular zone including volume and circulation. * Quantitative evaluation of OCT macula (OCT-M): central macular thickness, subfoveal choroidal thickness, macular sensitivity, macular volume. * ENT clinical examination: endoscopic examination of ears, nose, oral cavity, pharynx, and larynx, with photographic documentation of vascular alterations where applicable, to assess mucocutaneous and endonasal telangiectasias. * Detection and characterization of neovascularizations and vascular changes (telangiectasias, leakages, hyper- and hypofluorescent areas) using fluorescein angiography (FA) and indocyanine green angiography (ICG). | — |
Secondary
| Measure | Time frame |
|---|---|
| * Documentation of ocular symptoms (e.g., bloody tears, visual disturbances) and systemic manifestations of the disease. * Examination of the correlation between ocular findings and systemic manifestations of the disease. * Evaluation of the potential role of ocular alterations as a clinical marker for disease progression and organ involvement. * Analysis of the association between ocular findings and mucocutaneous as well as endonasal telangiectasias. | — |
Countries
Germany
Contacts
Public ContactViola Katharina Merk
Klinik für Augenheilkunde, Universitätsklinikum des Saarlandes UKS
Outcome results
None listed