Coloboma of macula-brachydactyly type B syndrome
MONDO:0007353Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.
Also known as: Sorsby syndrome, apical dystrophy, coloboma of macula with type B brachydactyly
33 clinical trials for this condition and its sub-types.
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VR headsets tested as a possible treatment for blindness
Disease control TerminatedThis study tested whether using a virtual reality headset for one-hour sessions could help regenerate damaged optic nerves and improve vision in people with glaucoma or other retinal diseases. The idea came from promising results in rodents. However, the trial was terminated earl…
Phase: NA • Sponsor: Stanford University • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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Scientists dig into DNA to unravel rare eye disorders
Knowledge-focused TerminatedThis study looked at over 100 people with inherited retinal dystrophies, a group of rare eye diseases that can cause vision loss. Researchers collected genetic and eye exam data to find links between specific gene mutations and symptoms. The goal was to better understand these di…
Sponsor: Fondation Ophtalmologique Adolphe de Rothschild • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC