EEM syndrome
MONDO:0009155EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).
Also known as: EEM syndrome, ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome, EEMS, ectodermal dysplasia, ectrodactyly, and macular dystrophy, ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
26 clinical trials for this condition and its sub-types, 0 tagged with EEM 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