Microphthalmia, isolated, with coloboma

MONDO:0000170

A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.

Also known as: MAC, colobomatous microphthalmia, microphthalmia with colobomatous cyst, microphthalmia-anophthalmia-coloboma syndrome, MCOPCB1, microphthalmia associated with colobomatous cyst, microphthalmos bilateral, colobomatous orbital cyst

1 clinical trial for this condition and its sub-types, 0 tagged with Microphthalmia, isolated, with coloboma itself.

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↑ Coloboma (6) ↑ Isolated anophthalmia-microphthalmia syndrome (3) ↑ Isolated microphthalmia (1)

Sub-types of Microphthalmia, isolated, with coloboma

Microphthalmia, isolated, with coloboma 5 1 trial
Microphthalmia with coloboma 1 0 trials
Microphthalmia with coloboma 2 0 trials
Microphthalmia, isolated, with coloboma 10 0 trials
Microphthalmia, isolated, with coloboma 3 0 trials
Microphthalmia, isolated, with coloboma 4 0 trials
Microphthalmia, isolated, with coloboma 6 0 trials
Microphthalmia, isolated, with coloboma 7 0 trials
Microphthalmia, isolated, with coloboma 8 0 trials
Microphthalmia, isolated, with coloboma 9 0 trials
Microphthalmia/coloboma 11 0 trials
Microphthalmia/coloboma 13 0 trials

Including sub-types (1) Tagged with Microphthalmia, isolated, with coloboma (0)

Terminated 1

Promising drug for recurrent brain tumor in kids falls short in early trial

Disease control Stopped early

This study tested an oral drug called CX-4945 (silmitasertib) in 21 children with recurrent SHH medulloblastoma, a rare brain tumor. The trial aimed to find the best dose and see if the drug could shrink tumors. However, the study was stopped early, so we don't have clear answers…

Phase 1/2 • Sponsor: Pediatric Brain Tumor Consortium • Aim: Disease control

Last updated Jun 27, 2026 07:56 UTC

Microphthalmia, isolated, with coloboma

Where it sits in the disease tree

Promising drug for recurrent brain tumor in kids falls short in early trial