Microphthalmia
MONDO:0021129Congenital or developmental anomaly in which the eyeballs are abnormally small.
Also known as: microphthalmia, microphthalmos, nanophthalmos
14 clinical trials for this condition and its sub-types, 5 tagged with Microphthalmia itself.
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Sub-types of Microphthalmia
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Syndromic microphthalmia 0 trials · 11 incl. sub-types
19 sub-types
- Matthew-Wood syndrome 5 trials
- Anophthalmia/microphthalmia-esophageal atresia syndrome 4 trials
- COFS syndrome 1 trial Sub-types →
- MMEP syndrome 1 trial
- Behrens Baumann dust syndrome 0 trials
- RAB18 deficiency 0 trials Sub-types →
- X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome 0 trials
- Colobomatous microphthalmia-rhizomelic dysplasia syndrome 0 trials
- Linear skin defects with multiple congenital anomalies 0 trials Sub-types →
- Microphthalmia microtia fetal akinesia 0 trials
- Microphthalmia with brain and digit anomalies 0 trials
- Microphthalmia, Lenz type 0 trials
- Microphthalmia, syndromic 1 0 trials
- Microphthalmia, syndromic 11 0 trials
- Microphthalmia, syndromic 12 0 trials
- Microphthalmia, syndromic 2 0 trials
- Microphthalmia-brain atrophy syndrome 0 trials
- Oculoauricular syndrome 0 trials
- Syndromic microphthalmia type 5 0 trials
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Isolated microphthalmia 0 trials · 1 incl. sub-types
10 sub-types
- Microphthalmia, isolated, with coloboma 0 trials · 1 incl. sub-types Sub-types →
- Isolated microphthalmia 1 0 trials
- Isolated microphthalmia 2 0 trials Sub-types →
- Isolated microphthalmia 3 0 trials
- Isolated microphthalmia 4 0 trials
- Isolated microphthalmia 5 0 trials
- Isolated microphthalmia 6 0 trials
- Isolated microphthalmia 7 0 trials
- Isolated microphthalmia 8 0 trials
- Microphthalmia, isolated, with cataract 1 0 trials
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Kaplowitz-Bodurtha syndrome 0 trials
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Nanophthalmia 0 trials
4 sub-types
- Nanophthalmos 1 0 trials
- Nanophthalmos 2 0 trials
- Nanophthalmos 3 0 trials
- Nanophthalmos 4 0 trials
Most studied deeper 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 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
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Mini eyes grown in lab to unlock secrets of birth defects
Knowledge-focused Recruiting nowThis study takes skin or blood cells from 20 people with eye malformations and turns them into stem cells, which are then grown into tiny 3D eye-like structures (organoids) in a dish. Researchers will study these mini eyes to understand what goes wrong during development and test…
Sponsor: University Hospital, Toulouse • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:03 UTC