Skip to search formSkip to main contentSkip to account menu

Anophthalmos

Known as: Agenesis of eye, Congenital absence of eye, Anophthalmias 
A rare congenital abnormality characterized by the complete absence of ocular tissue in the orbit.
National Institutes of Health

Related topics

Related topics

33 relations
ANOP1 geneANOPHTHALMIA AND PULMONARY HYPOPLASIABilateral AnophthalmosBranchio-Oculo-Facial Syndrome

Narrower (4)

Anophthalmia plus syndromeArroyo Garcia Cimadevilla syndromeLeichtman Wood Rohn syndromeSamson Viljoen syndrome

Broader (3)

Congenital DisordersEye AbnormalitiesFetal Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2008
Highly Cited
2008
Nylon Foil “Wraparound” Repair of Combined Orbital Floor and Medial Wall Fractures
Purpose: To evaluate a technique of implanting a single 0.4-mm–thick nylon foil (Supramid) continuously across combined medial… 
Review
2005
Review
2005
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies
The SOX2 transcription factor is expressed early in the embryonic stem cells of the blastocyst and later in the neural stem cells… 
Highly Cited
2005
Highly Cited
2005
Bilateral anophthalmia and brain malformations caused by a 20‐bp deletion in the SOX2 gene
To the Editor: Structural congenital malformations of the eye in humans encompass a spectrum of clinically and genetically… 
Highly Cited
1999
Highly Cited
1999
Craniofacial distraction with a modular internal distraction system: evolution of design and surgical techniques.
The present report summarizes the evolution of design for a modular internal distraction system that is applicable throughout the… 
Review
1998
Review
1998
Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia.
Only few cases with an interstitial deletion of chromosome 14 have been described so far. We report on a 21-month-old girl with… 
1996
1996
Two sibs with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome).
We describe two sibs with pulmonary hypoplasia and anophthalmia; one also had a number of other malformations. Only one other… 
Highly Cited
1994
Highly Cited
1994
Erratum: PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects (Nature Genetics 7 (463-471))
Highly Cited
1991
Highly Cited
1991
Holoprosencephaly in a fetal macaque (Macaca nemestrina) following weekly exposure to ethanol.
Previous studies in rodents have indicated that the facial changes of fetal alcohol syndrome (FAS) closely resemble those of a… 
Highly Cited
1980
Highly Cited
1980
The ipsilateral optic pathway to the dorsal lateral geniculate nucleus and superior colliculus in mice with prenatal or postnatal loss of one eye
The projections, and more particularly the ipsilateral projections, from the retina to the dorsal lateral geniculate nucleus… 
1979
1979
Eye malformations in rats: induction by prenatal exposure to nickel carbonyl.
Exposure of pregnant rats to inhalation of nickel carbonyl on days 7 or 8 of gestation frequently causes the progeny to develop… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)