microphthalmus

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Related to microphthalmia: microphthalmia transcription factor

microphthalmus

[‚mī‚kräf′thal·məs]
(medicine)
A condition characterized by an abnormally small eyeball. Also known as nanophthalmus.
References in periodicals archive ?
Types of genetic eye disorders had 10 attributes; Strabismus, cataract, extreme myopia, anophthalmia, microphthalmia, astigmatism and nystagmus, keratoconus, glaucoma and retinitis pigmentosa.
An ophthalmic examination was performed, revealing microphthalmia of the right eye.
2%) was evaluated for the first time after nine months of life with chorioretinitis, cataract, and microphthalmia.
Both TFE3 and TFEB belong to the microphthalmia transcription factor (MiTF) subfamily.
A key regulator of this process is the microphthalmia transcription factor (MITF), which has been dubbed the 'master regulator' of the melanocyte, capable of modulating expression of several melanocytespecific proteins.
She said: "Angharad was born with bilateral congenital cataracts, microphthalmia, Peters plus syndrome, nystagmus and glaucoma.
RADIOLOGIC DIAGNOSIS: Findings are consistent with persistent fetal vasculature syndrome (PFVS) of the right eye associated with microphthalmia, bilateral optic nerve and optic chiasm hypoplasia, and absence of the neurohypophysis.
The 20-year-old was born blind as a result of two rare conditions: Bilateral Microphthalmia, a developmental disorder, and Coloboma, which occurs when a baby's eyes do not develop properly during pregnancy.
The analysis revealed for instance that the eponymous mutation (the one leading to white coats and small eyes - or microphthalmia - in mice) causes structural changes in the MITF that prevents it from binding to the DNA.
On the eighth day Lucas was diagnosed with Microphthalmia - a disorder where one or both eyes do not develop fully and, in most cases, results in blindness.
6% of cases with oral clefts were associated with other anomalies including hydrocephalus, polydactyly, microcephalus, hypospadias and microphthalmia.
Most anomalies detected in animal studies have been observed in clinical and epidemiologic studies of maternal fever and febrile illness, including neural-tube defects, microphthalmia, congenital cataracts, abdominal wall defects, congenital heart defects, microcephaly, limb defects, craniofacial malformations, and renal defects (Edwards 2006).