The morphological observations of fetuses showed anomalies like open eye lid, distorted body axis, kyphosis, skin hemorrhage, drooping wrist, microphthalmia
, low set arm, kinky tail, exencephaly anophthalmia, maxillary macrognathia, microcephaly, clubbed foot and microtia.
PPM may also be accompanied by persistent hyperplastic tunica vasculosa lentis, persistent hyperplastic primary vitreous, cataract, microphthalmia
(BAYON et al.
Ophthalmologic findings can include retinal pigmentary changes with mottled hypopigmentation, abnormal peripheral retinal vessels with areas of nonperfusion (these two findings are nearly pathognomonic), retinal detachment, cataracts, microphthalmia
, optic atrophy, or foveal hypoplasia.
These visual impairment disorders include retinitis pigmentosa, keratoconus, cataract, nystagmus, astigmatism, glaucoma, microphthalmia
, anophthalmia, strabismus and myopia.
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 .
Goldenhar Syndrome, also termed oculo-auriculovertebral spectrum, is a congenital birth defect, which can result in ocular changes such as microphthalmia
, epibulbar dermoids, lipodermoids and coloboma, along with aural anomalies and vertebral defects.
Physical examination revealed microphthalmia
, erratic head movements, and ataxia.
transcription factor (MiTF) staining showed diffuse positive nuclear staining in the tumor (figure 4); vimentin was also diffusely positive but nonspecific.
Bilateral complex microphthalmia
with intraocular dermoid cyst in a neonate red deer (Cervus elaphus).
1) The main features of trisomy 9 syndrome are "bulbous" nose, microphthalmia
, dislocated limbs and other anomalies of skeletal, cardiac, genitourinary, and central nervous system (CNS).
Linking osteopetrosis and pycnodysostosis: regulation of cathepsin K expression by the microphthalmia
transcription factor family.
Adenosine 3',5'-cyclic monophosphate (cAMP) response element binding protein (CREB) and microphthalmia
transcription factor (MITF), which induce transcription of tyrosinase, are key transcription factors for melanogenesis .
UV radiation, which damages the DNA, results in an increase of the production of melanin and blocks the cell cycle through microphthalmia
associated transcription factor (MITF).
Fourteen different anomalies were recorded, of which agnathia, microcepahaly, microphthalmia
, anophthalmia, short neck and omphalocelle showed gradual increase in the percentage anomalies with the treatment of low to higher concentration of insecticide and observed with all applied concentrations.
Anophthalmia and microphthalmia
have been reported in rats exposed during organogenesis to verteporfin at 40 times the dose used in humans.