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Microphthalmos

Known as: Simple microphthalmos, Microphthalmia, Microphthalmos [Disease/Finding] 
A congenital abnormality characterized by the presence of an abnormally small eye globe.
National Institutes of Health

Related topics

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Narrower (10)

ANOPHTHALMIA AND PULMONARY HYPOPLASIABehrens Baumann Dust syndromeCataract, congenital, with microcornea or slight microphthalmiaKaplowitz Bodurtha syndrome
Adams Oliver syndromeAicardi's syndromeBLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)Bilateral microphthalmos

Broader (1)

Eye Abnormalities

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2010
Highly Cited
2010
Perturbations of MicroRNA Function in Mouse Dicer Mutants Produce Retinal Defects and Lead to Aberrant Axon Pathfinding at the Optic Chiasm
Background During development axons encounter a variety of choice points where they have to make appropriate pathfinding… 
Highly Cited
2010
Highly Cited
2010
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish
Warburg Micro Syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia… 
Highly Cited
2008
Highly Cited
2008
Primary Cutaneous PEComa: Distinctive Clear Cell Lesions of Skin
PEComas arising in somatic soft tissue or skin are rare. To further characterize the clinicopathologic spectrum, we herein report… 
Highly Cited
2002
Highly Cited
2002
A New Role for the STAT3 Inhibitor, PIAS3
In vitro and in vivoevidence suggest that microphthalmia transcription factor (MITF) plays a key regulatory role in tissue… 
Highly Cited
1999
Highly Cited
1999
Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome.
Highly Cited
1995
Highly Cited
1995
An apoptotic defect in lens differentiation caused by human p53 is rescued by a mutant allele.
If deprived of wild-type p53 function, the body loses a guardian that protects against cancer. Restoration of p53 function has… 
Review
1994
Review
1994
Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy?
A infant girl had red stellate skin lesions on the cheeks and neck, and mildly short palpebral fissures. Her skin abnormality was… 
Highly Cited
1989
Highly Cited
1989
Analysis of lens cell fate and eye morphogenesis in transgenic mice ablated for cells of the lens lineage.
Transgenic mice carrying the diphtheria toxin A gene driven by mouse gamma 2-crystallin promoter sequences manifest… 
Review
1987
Review
1987
New autosomal dominant branchio‐oculo‐facial syndrome
We observed an autosomal dominant disorder of abnormal upper lip, which resembles a poorly repaired cleft lip, malformed nose… 
Highly Cited
1966
Highly Cited
1966
Experimental Diabetes in Pregnant Mice: Prevention of Congenital Malformations in Offspring by Insulin
The main purpose of these experiments was the prevention of congenital malformations in offspring of alloxan-diabetic mice by… 
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