Cases reported "Microphthalmos"

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1/48. retinitis pigmentosa, nanophthalmos, and optic disc drusen: a case report.

    OBJECTIVE: Although the associations of retinitis pigmentosa (RP) with nanophthalmos/microphthalmos and RP with optic disc drusen have previously been recognized, the concurrence of all three features, as far as the authors are aware, has not previously been reported. DESIGN: Case report. RESULTS: The authors report a sporadic case of nanophthalmos, RP, and optic nerve drusen with the additional complication of chronic angle closure glaucoma. CONCLUSIONS: Visual loss may be secondary to the complications of nanophthalmos, RP, or optic nerve drusen. Chronic angle closure may be caused by choroidal effusion with serous retinal detachment, which may, in turn, cause a pseudo-RP picture. It is therefore important to recognize the possible association of true RP with nanophthalmos as a cause for visual deterioration.
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2/48. optic nerve coloboma with retinal degeneration associated with cystic microphthalmia of the other eye.

    In a seventy-five-year old man an optic nerve coloboma with generalised retinal degeneration associated with a cystic microphthalmia of the other eye is described. The MR imaging revealed the existence of a left microphthalmic eye with a lower lid cyst. From the other eye an optic nerve coloboma with a cystic ectasia of the coloboma area freely open to the vitreous cavity was apparent. The ERG recorded from this eye was extinguished.
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ranking = 0.28571428571429
keywords = optic
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3/48. microphthalmos and optic disc coloboma associated with a retrobulbar cyst.

    The combination of microphthalmos, optic nerve coloboma, and retrobulbar cyst is very rare. We present such a case, demonstrated by ultrasonography, computed tomography (CT), and magnetic resonance imaging (MRI).
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4/48. Bilateral microphthalmos with colobomatous orbital cyst and de-novo balanced translocation t(3;5).

    A term Caucasian male infant, born to a healthy non-related couple, was noted at birth to have bilateral edema and bluish discoloration of the lower eyelids. On physical examination, the eye globes were not visualized and hypertelorism was noted. Radiological imaging revealed large bilateral orbital cysts, microphthalmos, and severe optic nerve hypoplasia. Histological study of the excised orbital masses showed cysts lined by primitive, immature retinal tissue which contained neuroglial elements and scattered dysplastic rosettes. Chromosome analysis revealed an apparent balanced reciprocal translocation between the long arm of chromosome 3 and 5, i.e. 46, XY, t (3; 5) (q27; q11.2).Chromosome studies in parents were normal. To our knowledge, the association of this balanced translocation and microphthalmos with cyst has not been previously described in the English literature.
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ranking = 0.14285714285714
keywords = optic
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5/48. Abnormal development of the lesser wing of the sphenoid with microphthalmos and microcephaly.

    We report two patients with abnormal development of the lesser wing of the sphenoid bone, globe, optic nerve and cerebral hemisphere without stigmata of neurofibromatosis type 1. The lesser wing of the sphenoid bone was abnormally formed and was not ossified ipsilateral to the dysmorphic eye and underdeveloped cerebral hemisphere. Maldevelopment of the sphenoid wing may interfere with the normal closure of the optic vesicle and normal growth of encephalic structures, possibly by disturbing developmental tissue interactions. These patients may exhibit a type of restricted primary sphenoid dysplasia, while the sphenoid dysplasia of neurofibromatosis type 1 may be secondary to orbital or ocular neurofibromas and other factors associated with that disease.
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ranking = 0.28571428571429
keywords = optic
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6/48. Bilateral ocular malformations in a newborn with normal karyotype: histologic findings.

    microphthalmos with cyst is a rare condition characterized by a small globe and an inferior uveoretinal coloboma. There is also a defect in the posterior aspect of the eye through which a cyst lined by neuroectodermically derived tissue protrudes into the orbit. A case of isolated bilateral colobomatous and cystic microphthalmos is reported in an otherwise healthy child, showing no evidence of chromosomal abnormalities. Microscopic findings in the enucleated eye consisted of iris and retinal dysgenesis, ectopia lentis, persistent anterior tunica vasculosa lentis and pupillary membrane, intrachoroidal smooth muscle, and optic nerve hypoplasia. In the orbital cyst, a thick membrane reminiscent of the retinal inner limiting membrane lay between the fibroadipose and vascularised outer wall and the inner neuroectodermal lining.
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ranking = 0.14285714285714
keywords = optic
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7/48. Orbital aspiration as treatment of microphthalmos with orbital cyst: a case report.

    A 6-month-old girl came to the hospital with swelling of the right lower eyelid, exophthalmos, chemosis and upward deviation of the eyeball--all of which had been present since birth. iris, optic disc, and chorioretinal coloboma were also apparent. magnetic resonance imaging revealed a small globe with a large cystic lesion in the orbit of the right eye. Pre- and post-operative photographs and magnetic resonance imaging indicated a safe, simple single orbital aspiration as an alternative treatment for mild microphthalmos with an orbital cyst.
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ranking = 0.14285714285714
keywords = optic
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8/48. Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.

    Ocular (uveoretinal) colobomas occur in one in 10,000 individuals and present a substantive cause of congenital poor vision. The genetic bases of most forms of uveoretinal coloboma are elusive; mutations in PAX2 are found in only a few cases of coloboma of the retina and optic nerve that occur with renal anomalies as part of the renal-coloboma syndrome (MIM#120330; #167409). From experimental data that upstream expression of sonic hedgehog (SHH) controls Pax2 expression in mice and zebrafish, and from clinical experience that colobomas are observed frequently in patients with holoprosencephaly, we hypothesized that SHH could be a candidate for non-syndromic ocular colobomas (NSOC). We identified a three-generation family in which both a proband and his mother presented with iris and uveoretinal colobomas without optic nerve involvement. A novel 24 bp deletion in the gene SHH was identified in these affected family members, and cosegregated with the phenotype. This is the first report of the association of SHH mutations and uveoretinal coloboma.
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ranking = 0.28571428571429
keywords = optic
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9/48. autopsy case of multiple anomalies with hypoplastic cerebrum, eyes, and endocrine organs, mimicking Micro syndrome.

    We report an autopsy case of multiple anomalies with severe micrencephaly, bilateral microphthalmos, and hypoplastic endocrine organs. We examined expressions of calcium-binding proteins and hypothalamic and pituitary hormones. A female proband presented with microcephaly, microphthalmia, and psychomotor development delay. At the age of 23 years, she died of cardiorespiratory failure. The endocrine organs demonstrated severe underdevelopment, and the hypoplastic eyeballs had remnant lens, vitreous hemorrhage, and retinal detachment. The brain weighed 260 g; the cerebrum, cerebellum, and brain stem were extremely small; and the tertiary sulci were absent in the cerebral surface. The cross-sectional area of cerebral cortex was reduced to about one third of those in the control, although six-layered lamination, density of pyramidal neurons, and expressions of calcium-binding proteins were comparatively preserved in the cerebral cortex. The third ventricle was hypoplastic, and the bilateral thalami appeared to be fused and the hippocampus was unrolled, whereas the corpus callosum was preserved. In the hypothalamus, the paraventricular nucleus was only identified, and the adenohypophysial somatotrophs were reduced. This may be the first autopsy report of Micro syndrome, which is characterized by microcephaly, brain malformations, optic atrophy, and hypogenitalism, although the case lacked agenesis of the corpus callosum.
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ranking = 0.14883933025487
keywords = optic, atrophy
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10/48. Ocular findings in cerebro-oculo-facial-skeletal syndrome (Pena-Shokeir-II syndrome).

    PURPOSE: To report the ocular findings in cerebro-oculo-facial-skeletal syndrome or Pena-Shokeir-II syndrome. methods: Case report. RESULTS: A five-month-old male infant presented with bilateral posterior polar cataract, microphthalmos, nystagmus, and marked non-glaucomatous optic nerve atrophy. Systemic abnormalities such as microcephaly, micrognathia, flexion contractures of the elbows and knees, hypotonic musculature, and failure to thrive, with pronounced statomotor retardation, led to the diagnosis of cerebro-oculo-facial-skeletal syndrome or Pena-Shokeir-II syndrome. cataract surgery did not improve the poor visual performance. CONCLUSIONS: Cerebro-oculo-facial-skeletal syndrome (Pena-Shokeir-II syndrome) should be included in the differential diagnosis of bilateral microphthalmos, congenital cataract, nystagmus, and pronounced optic nerve atrophy, and cataract surgery does not markedly improve vision.
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ranking = 0.29767866050974
keywords = optic, atrophy
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