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]
References in periodicals archive ?
Another form of autosomal-dominant disease, NNO3 (OMIM 611897), was described in a family with simple microphthalmia, microcornea, and high hyperopia, and it was reported to be linked to chromosome 2q11-14 [86].
Based on the histological findings a pathological diagnosis of a microphthalmia with dominant cyst formation was made.
For clinicians, it is of interest to confirm that the de novo 3q26.33q27.3 microdeletion seems to typically have ocular absence or severe microphthalmia and microcephalia, along with mental delay [1].
Microphthalmia, which is frequently associated with multiple malformation, has been described in both domestic and nondomestic species, including several canine breeds (e.g., Doberman Pinscher, Saint Bernard, and Miniature Schnauzer, but more frequently as part of the collie eye anomaly), horses, cattle (Angus, Shorthorn, Hereford), Texel sheep, pigs, camel, white-tailed deer, and raptors [2].
In case of group II, anomalies observed were skin hemorrhage (2.5%) imbalanced body axis (5.0%), microphthalmia (2.5%), degenerated claws (3.75%) and kinky tail (3.75%).
PPM may also be accompanied by persistent hyperplastic tunica vasculosa lentis, persistent hyperplastic primary vitreous, cataract, microphthalmia (BAYON et al., 2002; MITCHELL, 2011), retinal dysplasia (BAYON et al., 2002), iris hypoplasia (MISK et al., 1998; PINARD & BASRUR, 2011), heterochromia iridis (MISK et al., 1998), angle-closure glaucoma caused by pupillary block, or peripheral anterior synechiae (YOUNG et al., 1974).
Eye involvement presents with epibulbar dermoid/lipodermoid, microphthalmia, anophthalmia, cataract, astigmatism, antimongoloid obliquity of palpebral fissures, blepharophimosis and colobomata of the upper eyelid, iris, and retina.
Boyden, "Microphthalmia with single central incisor and hypopituitarism," Journal of Medical Genetics, vol.
Garcia-Borron, "Inhibition of melanogenesis in response to oxidative stress: transient down-regulation of melanocyte differentiation markers and possible involvement of microphthalmia transcription factor," Journal of Cell Science, vol.
The strabismus was observed in 42 (27.6%) patients, cataract in 39(25.6%), extreme myopia in 32(21.1%), microphthalmia in 13(8.5%), anophthalmia in eight(5.3%), astigmatism in nine(5.9%) and nystagmus in six(3.9%) patients, while keratoconus, glaucoma and retinitis pigmentosa were in single(0.7%) patient each.
###* Morning glory disc anomaly optic nerve###* Microphthalmia
Ophthalmologic abnormalities have been estimated to occur in 87% of cases of FND and include optic nerve anomalies, ptosis, exophthalmos, orbital asymmetry, microphthalmia, cataract, dermoid, nystagmus, coloboma of iris, choroidea and optic disk, refractive errors, amblyopia, and strabismus [12].