Amaurosis-hypertrichosis syndrome
MONDO:0008766Amaurosis hypertrichosis is characterized by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.
Also known as: amaurosis congenita cone-rod type with congenital hypertrichosis, amaurosis congenita, cone-rod type, with congenital hypertrichosis
25 clinical trials for this condition and its sub-types, 0 tagged with Amaurosis-hypertrichosis 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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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