11/55. Proboscis lateralis: a case report.Proboscis lateralis is a rare facial anomaly resulting in incomplete formation of one side of the nose. We report a left-sided proboscis lateralis case of a 9 months old male with left-sided heminasal aplasia, microphthalmi, coloboma iris and retina and an arachnoid cyst in the temporal fossa of the brain. We present the clinical, radiological features of this unusual case.- - - - - - - - - - ranking = 1keywords = coloboma (Clic here for more details about this article) |
12/55. Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom.Two sporadic cases of eventration of the diaphragm are reported; one had bilateral colobomatous microphthalmia and the other had anophthalmia. Absence of polydactyly and presence of eventration rather than diaphragmatic hernia helped to exclude Fryns syndrome. These cases together with published cases with overlapping features support the thesis that this combination of defects is nonrandom and of heterogeneous cause. Some cases are due to a pleiotropic gene defect. In other cases, a polytypic developmental field involving an unknown developmental cascade common to the eye and diaphragm may provide a basis for the combination.- - - - - - - - - - ranking = 1keywords = coloboma (Clic here for more details about this article) |
13/55. Colobomatous microphthalmia and orbital neuroglial cyst: case report.We present the case of a boy with a congenital right orbital cyst with bilateral colobomatous microphthalmia. neuroimaging studies excluded communication between the cyst and the eye and between the cyst and the central nervous system. Analysis of cyst fluid obtained by aspiration detected beta 2-transferrin by high resolution immunofixation (IFE). The cyst recurred two months following aspiration. It was then completely excised and histopathologic studies demonstrated a cyst containing neuroglial tissue. No recurrence was observed for 12 months following excision.- - - - - - - - - - ranking = 1keywords = coloboma (Clic here for more details about this article) |
14/55. genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?Nonsyndromic congenital microphthalmia or anophthalmia is a heterogeneous malformation with autosomal dominant, autosomal recessive, and X-linked modes of inheritance. Lenz microphthalmia syndrome comprises microphthalmia with mental retardation, malformed ears, skeletal anomalies, and is inherited in an X-linked recessive pattern. Prior studies have shown linkage of both isolated (or nonsyndromic) anophthalmos (ANOP1, [MIM 301590]) and Lenz syndrome [MIM 309800] to Xq27-q28. Nonsyndromic colobomatous microphthalmia [MIM 300345] has been linked to Xp11.4-Xq11.1. We describe a five-generation African-American family with microphthalmia or anophthalmia, mental retardation, and urogenital anomalies, in an X-linked recessive inheritance pattern, consistent with Lenz syndrome. Initial linkage analysis with microsatellite markers excluded the region in Xq27-q28 previously reported as a candidate region for ANOP1 [MIM 301590]. An X-chromosome scan revealed linkage to a 10-cM region between markers DXS228 and DXS992 in Xp11.4-p21.2. Multipoint analysis gave a maximum lod score of 2.46 at marker DXS993. These data show that X-linked recessive syndromic microphthalmia exhibits genetic heterogeneity. In addition, it suggests that Lenz microphthalmia syndrome, previously thought to be a single disorder, may represent an amalgam of two distinct disorders.- - - - - - - - - - ranking = 1keywords = coloboma (Clic here for more details about this article) |
15/55. 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.- - - - - - - - - - ranking = 2keywords = coloboma (Clic here for more details about this article) |
16/55. 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.- - - - - - - - - - ranking = 1keywords = coloboma (Clic here for more details about this article) |
17/55. 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.- - - - - - - - - - ranking = 12keywords = coloboma (Clic here for more details about this article) |
18/55. microphthalmos with bilateral colobomatous orbital cyst accompanied by polycystic kidney disease and vacuolization of myeloid progenitor cells.A case of microphthalmos with bilateral colobomatous orbital cyst accompanied by polycystic kidney disease and vacuolization of myeloid progenitor cells is presented. association of these three entities has not been described previously in the literature.- - - - - - - - - - ranking = 5keywords = coloboma (Clic here for more details about this article) |
19/55. Microgastria-hypoplastic upper limb association: a severe expression including microphthalmia, single nostril and arhinencephaly.Report on a female infant with iris coloboma on the right and microphthalmia/orbital cyst on the left, single nostril, radial defectis, abnormal lung lobation, congenital heart defect, hypoplastic spleen, absent gallbladder, microgastria, unilateral renal aplasia, arhinencephaly and fused thalami. This case represents an unusually severe expression of a probably rare association recently reviewed by Lueder et al. (1989).- - - - - - - - - - ranking = 1keywords = coloboma (Clic here for more details about this article) |
20/55. retinoblastoma, microphthalmia, coloboma, and neuroepithelioma of the pineal body.A one-month-old infant boy was examined early in life because his mother had bilateral retinoblastoma and his father had bilateral microphthalmia. The ophthalmologist found his right eye was normal size with a coloboma of the iris, choroid, and retina. The left eye was microphthalmic with a coloboma of the uveal tract and retina. A vascularized fluffy white mass in the posterior pole was diagnosed clinically as a retinoblastoma. The tumor regressed with radiation. When the patient was four years of age, a large tumor was found in the region of the pineal recess, causing hydrocephalus and seizures. A biopsy showed an undifferentiated malignant neuroepithelial neoplasm. The patient died within three months of diffuse central nervous system tumor. The unusual findings of a retinoblastoma in a microphthalmic eye with bilateral colobomas and a neuroepithelial neoplasm of the pineal gland are discussed.- - - - - - - - - - ranking = 7keywords = coloboma (Clic here for more details about this article) |
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