Revesz syndrome
MONDO:0009990Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.
Also known as: DKCA5, Revesz syndrome, Revesz-DeBuse syndrome, dyskeratosis congenita with bilateral exudative retinopathy, dyskeratosis congenita, autosomal dominant 5, exudative retinopathy with bone marrow failure, retinopathy-anemia-central nervous system anomalies syndrome
59 clinical trials for this condition and its sub-types, 2 tagged with Revesz syndrome itself.
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New eye scanner could spot hidden signs of blindness
Diagnosis Not yet recruitingThis study will test a new, non-invasive eye scanner called wide field OCTA in 200 people with various eye diseases, including age-related macular degeneration, diabetic retinopathy, and dry eye. The goal is to see if this device can provide better images of blood vessels in the …
Sponsor: IRCCS San Raffaele • Aim: Diagnosis
Last updated Jun 27, 2026 08:07 UTC
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New eye camera could spot retinal disease earlier
Knowledge-focused Not yet recruitingThis study will test a new, noninvasive camera called XyCAM CRE that measures blood flow in the back of the eye. Researchers will compare its images with standard eye tests in 350 adults with retinal disorders. The goal is to see if this camera can provide extra information to he…
Sponsor: Stuart Terry Eye Associates • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:07 UTC
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New online tool aims to help families uncover hidden cancer risks
Knowledge-focused Not yet recruitingThis study tests whether a new online program can help families understand their inherited cancer risk and encourage relatives to get low-cost genetic testing. Researchers will enroll 400 adults who carry a cancer-related gene change and their family members. The goal is to see i…
Sponsor: Stanford University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:33 UTC
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Scientists track eye disease patterns to speed future cures
Knowledge-focused Not yet recruitingThis study looks back at medical records of 200 people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Researchers will analyze vision tests and eye scans to see how these diseases progress and how genetics affect symptoms. The goal is to find be…
Sponsor: IRCCS San Raffaele • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:02 UTC