anophthalmia


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Related to anophthalmia: microphthalmia, the woman

anomaly

 [ah-nom´ah-le]
marked deviation from normal. adj., adj anom´alous.
Axenfeld's anomaly a developmental anomaly characterized by a circular opacity of the posterior peripheral cornea, and caused by an irregularly thickened, axially displaced Schwalbe's ring.
congenital anomaly (developmental anomaly) absence, deformity, or excess of body parts as the result of faulty development of the embryo.
Ebstein's anomaly see ebstein's anomaly.
May-Hegglin anomaly a rare dominantly inherited disorder of blood cell morphology, characterized by RNA-containing cytoplasmic inclusions (similar to Döhle bodies) in granulocytes, by large, poorly granulated platelets, and by thrombocytopenia.

an·oph·thal·mi·a

(an'of-thal'mē-ă),
Congenital absence of all tissues of the eyes.
Synonym(s): anophthalmos
[G. an- priv. + ophthalmos, eye]

an·oph·thal·mi·a

(anof-thalmē-ă)
Congenital absence of all tissues of the eyes.
[G. an- priv. + ophthalmos, eye]

anophthalmia 

Congenital absence of all tissues of the eyes. It is due to a failure of the outgrowth of the optic vesicle to form the optic cup. However, in many cases some development occurs and there is a rudimentary presence of one or both eyes, such as extreme microphthalmia. Syn. anophthalmos; anophthalmus; anopia. See optic cup; microphthalmia; monophthalmia; optic vesicle.

an·oph·thal·mi·a

, anophthalmos (anof-thalmē-ă, -mŏs)
Congenital absence of all tissues of the eyes.
[G. an- priv. + ophthalmos, eye]
References in periodicals archive ?
FitzPatrick, "Anophthalmia and microphthalmia," Orphanet Journal of Rare Diseases, vol.
The frequency of strabismus was observed in 42 (27.6%) patients, cataract in 39 (25.6%) patients, extreme myopia in 32 (21.1%) patients 13 (8.5%) persons of microphthalmia, 8 (5.3%) individuals with anophthalmia, 9 (5.9%) patients of astigmatism and 6 (3.9%) patients of nystagmus, while keratoconus, glaucoma and retinitis pigmentosa were observed in single patient (0.7%)each.
These include a single case of myelomeningocele and a single case of anophthalmia with severe oblique facial clefts and amniotic banding.
Peter, 40, a painter and decorator, has dedicated the past seven years to researching the effects of fungicides on children born with anophthalmia (no eyes) or microphthalmia.
([paragraph]) Structural eye abnormalities (microphthalmia/ anophthalmia, coloboma, cataract, intraocular calcifications, and chorioretinal anomalies [e.g., atrophy and scarring, gross pigmentary changes, excluding retinopathy of prematurity]); optic nerve atrophy, pallor, and other optic nerve abnormalities.
Specifically, the presence of one defective copy of PAX6 results in ocular malformations, but mutations in both copies of PAX6 cause ocular phenotypes that are more severe (e.g., anophthalmia) and brain abnormalities that are incompatible with life [6, 39, 40].
Bunyan et al., "SOX2 anophthalmia syndrome: 12 New cases demonstrating broader phenotype and high frequency of large gene deletions," British Journal of Ophthalmology, vol.
Morphological studies showed the abnormalities such as distorted axis, cryptophthalmia, anophthalmia, open eyelids, micromelia, phocomelia, agnathia, hydrocephaly, angular tail and subcutaneous hemorrhages.
Anophthalmia and microphthalmia have been reported in rats exposed during organogenesis to verteporfin at 40 times the dose used in humans.
The participant was "Yaffa," a 13-year-old girl with severe-profound intellectual disability, blindness due to bilateral congenital anophthalmia, and mild conductive hearing disorder.