microphthalmia


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Related to microphthalmia: microphthalmia transcription factor

microphthalmos

 [mi″krof-thal´mus]
a developmental defect causing moderate or severe reduction in size of the eye.

mi·croph·thal·mos

(mī'krof-thal'mos),
Abnormal smallness of the eye.
[micro + G. ophthalmos, eye]

microphthalmia

A congenital reduction in eye size, with the ocular bulb measuring 1/2 of the normal volume in extreme cases, due to an abnormal development of the optic vesicle in the optic cup.

Aetiology
• Congenital—e.g., encephalo-ophthalmic dysplasia, focal dermal hypoplasia, Hallermann-Streiff syndrome, incontinentia pigmenti, Lenz microphthalmia syndrome, retinopathy of prematurity, trisomy 13-15.
• Infectious—e.g., CMV, herpes, rubella, toxoplasmosis.
• Toxins—e.g., foetal alcohol syndrome.

Incidence
14/105; 3–11% of all cases of blindness.

microphthalmia

A congenital ↓ in eye size, with the ocular bulb measuring12 of the normal volume in extreme cases, due to an abnormal development of the optic vesicle in the optic cup, which may be
1. Congenital, as in encephalo-ophthalmic dysplasia, focal dermal hypoplasia, Hallermann-Streiff syndrome, incontinentia pigmenti, Lenz's microphthalmia syndrome, retinopathy of prematurity, trisomy 13-15 or.
2. Infectious–eg, CMV, rubella, toxoplasmosis. See TORCH.

microphthalmia

Congenital anomaly in which the eyeball is abnormally small and often deeply set in a small orbit. It is typically hyperopic. Syn. microphthalmos; microphthalmus. When there is no other abnormality (e.g. coloboma of the iris, microphthalmos with cyst), the condition is called nanophthalmos (Fig. M10). See anophthalmia; monophthalmia; pseudoptosis.
Fig. M10 Right eye microphthalmos (From Kanski 2007, with permission of Butterworth-Heinemann)enlarge picture
Fig. M10 Right eye microphthalmos (From Kanski 2007, with permission of Butterworth-Heinemann)

mi·croph·thal·mos

, microphthalmia (mī'krof-thal'mŏs, -mē-ă)
Abnormal smallness of the eye.
[micro- + G. ophthalmos, eye]

microphthalmia

References in periodicals archive ?
Frequent symptoms include microphthalmia (9-25% of cases), strabismus (12-60%), nystagmus (3-47%), cataract (1-14%), vitreitis (3-50%), and visual damage (50-100%).
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.
2,3,5-7) Posterior PRVS, on the other hand, is often associated with microphthalmia, retinal detachment, tubular- or triangular-shaped structure representing Cloquet's canal, and subretinal hemorrhages.
microphthalmia, congenital cataracts), cardiovascular, craniofacial, renal, and musculoskeletal defects (e.
In chick embryos exposed to ELF pulsed EMR, a potent teratogenic effect was observed, leading to microphthalmia, abnormal trunkal torsion, and malformations on the neural tube (Lahijani and Ghafoori, 2000).
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
Cross syndrome###HGF and microphthalmia, mental retardation, hypo-
Hallerrnann-Streiff syndrome is a congenital disorder invoMng glaucoma in both eyes, microphthalmia (smaller-than-normal eyesl, dwarfism, lower-than-normal amount of body hair, a characteristic "beak-shaped" nose, micrognathia, dental abnormalities, and increased upper airway resistance.
MICROPHTHALMIA is a developmental disorder of the eye that results in little to no eye development.
Causes of vision loss included retinitis pigmentosa (n = 5), glaucoma (n = 3), retinopathy of prematurity (n = 3), diabetic retinopathy (n = 3), retinal detachment (n = 2), microphthalmia (n = 2), and others (n = 14).
Common ocular manifestations of congenital infections include chorioretinitis and cataract, with less common occurrence of microphthalmos, glaucoma, keratitis, microphthalmia, iridocyclitis, iris dystrophy, optic neuritis, retinitis (3).
In pre-clinical trials of EFV, 3/20 cynomolgus macques exposed to the drug during pregnancy produced offspring with significant abnormalities: one with anencephaly and unilateral anophthalmia, one with microphthalmia and one with a cleft palate.