Microcephaly and chorioretinopathy 1
MONDO:0009624An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.
Also known as: Pseudotoxoplasmosis syndrome, TUBGCP6 microcephaly and chorioretinopathy, autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome, microcephaly and chorioretinopathy 1, microcephaly and chorioretinopathy caused by mutation in TUBGCP6, microcephaly and chorioretinopathy type 1, microcephaly and chorioretinopathy, autosomal recessive, type 1, MCCRP1
28 clinical trials for this condition and its sub-types.
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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 eye imaging study aims to map retinal disease progression
Knowledge-focused Not yet recruitingThis observational study will use advanced imaging techniques to measure changes in the retina and choroid (the layer beneath the retina) in people with eye diseases and healthy volunteers. Over 5 years, researchers will track thickness and blood vessel density to better understa…
Sponsor: Fondazione G.B. Bietti, IRCCS • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:00 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