Isolated anophthalmia-microphthalmia syndrome
MONDO:0016764Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit.
Also known as: MAC spectrum, microphthalmia-anophthalmia-coloboma spectrum, nonsyndromic anophthalmia-microphthalmia syndrome, clinical anophthalmia, isolated anophthalmia - microphthalmia, isolated pure microphthalmia, primitive anophthalmia
3 clinical trials for this condition and its sub-types.
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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 Aug 09, 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