Anophthalmia/microphthalmia-esophageal atresia syndrome
MONDO:0008799Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.
Also known as: MCOPS3, anophthalmia/microphthalmia-esophageal atresia syndrome, microphthalmia, syndromic type 3, syndromic microphthalmia type 3, Aeg syndrome, SOX2 anophthalmia syndrome, SOX2-related eye disorders, anophthalmia clinical with associated anomalies
4 clinical trials for this condition and its sub-types, 4 tagged with Anophthalmia/microphthalmia-esophageal atresia syndrome itself.
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Cartoon characters could make Kids' eye exams more accurate
Diagnosis Recruiting nowThis study tests whether showing cartoon video clips and using character voices during a visual field test can help children aged 5-8 stay focused and give more reliable results. Twenty children with certain eye conditions will be tested twice, once with the cartoon intervention …
Sponsor: Nova Southeastern University • Aim: Diagnosis
Last updated Jun 26, 2026 16:36 UTC
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Scientists hunt for genes behind rare eye conditions
Knowledge-focused Recruiting nowThis study aims to uncover the genetic causes of a group of eye conditions called MAC (microphthalmia, anophthalmia, and uveal coloboma), which can lead to vision loss or blindness. Researchers will collect DNA samples from 600 people—both those with MAC and their close relatives…
Sponsor: National Eye Institute (NEI) • Aim: Knowledge-focused
Last updated Sep 19, 2026 00:00 UTC
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800 kids with rare eye conditions to be tracked for 10 years
Knowledge-focused Recruiting nowThis study follows 800 children born with eye malformations like microphthalmia, anophthalmia, aniridia, or anterior segment defects. Researchers will track their vision, brain development, and overall health for up to 10 years to better predict outcomes. No new treatments are be…
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jul 09, 2026 00:00 UTC
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Massive study seeks clues to rare eye disorders in kids
Knowledge-focused Recruiting nowThis research study aims to learn more about children born with small or missing eyes (Microphthalmia, Anophthalmia, and Coloboma, or MAC) and how genetic changes may cause these conditions. Researchers will collect medical histories, saliva, and blood samples, and perform physic…
Sponsor: Baylor College of Medicine • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:29 UTC