Hereditary benign intraepithelial dyskeratosis
MONDO:0007486A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported.
Also known as: HBID, Witkop-Von Sallmann disease, hereditary benign corneal intraepithelial dyskeratosis, Dkbi, dyskeratosis, hereditary benign intraepithelial
7 clinical trials for this condition and its sub-types, 0 tagged with Hereditary benign intraepithelial dyskeratosis itself.
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New eye scanner could sharpen diagnosis of glaucoma and retina diseases
Diagnosis CompletedThis study is testing a new eye imaging device called the VG200D, which uses advanced technology to take detailed pictures of the eye. Researchers want to see if it works as well as a standard device for measuring parts of the eye in people with glaucoma, retina problems, corneal…
Sponsor: Intalight, Inc • Aim: Diagnosis
Last updated Jul 31, 2026 00:00 UTC
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New registry aims to improve corneal transplants with AI
Knowledge-focused CompletedThis study created a nationwide registry to track long-term results of corneal surgeries and diseases. Researchers collected images and data from 19 participants to help understand what makes corneal transplants successful. The goal is to use this information to develop AI that c…
Sponsor: Nitin Vaswani • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:06 UTC
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AI eye chatbot matches doctors in taking patient history
Knowledge-focused CompletedThis study tested whether a large language model (like ChatGPT) could collect medical history and suggest eye tests as well as doctors do. 172 patients with non-emergency eye problems took part. The AI's performance was compared to standard care, with senior specialists checking …
Sponsor: Zhongshan Ophthalmic Center, Sun Yat-sen University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:10 UTC