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At least 163 records · Page 9Linked to original sources
PubMed2002

[Renal-coloboma syndrome].

CASE REPORT: We describe a woman with optic disc pit and bilateral renal hypoplasia as a papillorenal syndrome. DNA analysis for PAX2 mutations revealed a heterozygous mutation (nucleotide 619 in exon 9). A first uncle and a cousin had the same PAX2 mutation. DISCUSSION: The association of optic nerve colobomas and renal anomalies comprises a autosomal dominant syndrome for mutations in the PAX2 gene. Ophthalmic and renal diseases are highly variable; the ophthalmologist must check for a renal problem when a coloboma is detected.

Abnormalities, Multiple↗
PubMed2005

[Phacoemulsification of intumescent cataract, IOL implantation and reconstruction of congenital iris coloboma through one anterior chamber superior opening. Case report].

PURPOSE: To report a phacoemulsification of intumescens cataract and repair of congenital iris coloboma through one superior incision. MATERIAL AND METHODS: Retrospective case report. RESULTS: Postoperative repair resulted in adequate pupil restoration, exact IOL position that allowed good visual rehabilitation. CONCLUSIONS: Cataract surgery in most cases is performed through superior incision. Congenital iris coloboma repair using the same incision is difficult but provides good cosmetic and functional results.

Adult↗
PubMed1991

Retinochoroidal coloboma and subretinal neovascularization.

Subretinal neovascularization associated with retinochoroidal coloboma is rare. To the authors' knowledge, only three cases have been reported. We report a new case of isolated subretinal neovascularization and coloboma in a 26-year-old woman without other causes of choroidal neovascularization. Only the disruption of the normal retinal anatomy could explain the development of this subretinal neovascularization.

Adult↗
PubMed1990

Congenital macular coloboma in Down syndrome.

A 9-year-old girl with Down syndrome had bilateral congenital coloboma of the macula. She was born after an uneventful pregnancy, and the results of a Toxoplasma dye test were negative. We concluded that the condition in this patient was a rare occurrence of Down syndrome with macular coloboma.

Child↗
PubMedDate not supplied

[Chorioretinal coloboma and neovascular membrane].

Retinochoroidal coloboma results from an incomplete closure of the ocular embryonic fissure. Uni or bilateral, the coloboma can be associated with cataract, microphthalmia, retinal detachment... but rarely with neovascularization. This association is comparable with subretinal neovascularization in high myopia, angioid streaks, choroiditis and choroidal ruptures. The disruption of the normal anatomy of the Bruch's membrane is a possible entry site of choroidal blood vessels. But the reason why only rare cases are reported is unknown.

Adult↗
PubMed1989

Subretinal neovascularization associated with retinochoroidal colobomas.

The development of subretinal neovascularization as a complication of retinochoroidal coloboma has been reported in only three cases, in only one of which was the patient treated with laser photocoagulation. We report an additional case of subretinal neovascularization associated with retinochoroidal coloboma in a 57-year-old man that was treated with laser photocoagulation. The patient's visual acuity has remained stable at 20/50.

Choroid↗
PubMed1989

Bilateral optic disc colobomas with orbital cysts and hypoplastic optic nerves and chiasm.

A 3-month-old boy with bilateral optic disc colobomas and orbital cysts is presented. Both eyes appeared relatively normal in size. Ultrasonography on one side demonstrated a communication between the globe and cyst by way of the optic disc coloboma. On computed tomography and magnetic resonance imaging, the cysts' contents were similar to vitreous. The optic nerves and chiasm appeared markedly hypoplastic on neuroimaging tests. Fluorescein angiography, electroretinography, and visual evoked responses suggested that the visual deficit primarily was ascribable to optic nerve or anterior visual pathway dysfunction.

Coloboma↗
PubMedDate not supplied

[The interaction of the coloboma and aphakia mutant genes in mice].

The eye development has been studied in the 12-day-old, 14-day-old embryos and in neonates of Cm/+ ak/ak genotype. The gene coloboma (Cm) in heterozygous state causes a typical coloboma of the iris and the gene aphakia (ak) blocks the lens development in the homozygotes. It has been shown that in Cm/+ ak/ak mice the eyes go through mainly the same abnormal development as that in +/+ ak/ak animals. In mice of both genotypes the lens morphogenesis blocking at the vesicle stage and the retinal fold in the dorsal half of the eye develops. However, the ventral retinal fold which is characteristic for the +/+ ak/ak mice does not form in the Cm/+ ak/ak animals that is the result of the interaction of Cm and ak genes in the eye morphogenesis. The Cm gene suppressing the growth of the retina ventral half inhibits the formation of its fold in Cm/+ ak/ak embryos. As a result of the gene interaction a certain normalization of the eye development compared to the +/+ ak/ak mice is observed in the Cm/+ ak/ak animals. The obtained data show that the Cm gene expresses in the cell clones of the retina ventral half.

Animals↗
PubMed1989

Colobomas of the optic area.

A 24-year old woman displayed a coloboma of the right optic nerve with multiple small parapapillary retinochoroidal colobomas. This rare association makes one suspect that the pathogenesis of colobomatous defects of the optic disc area are caused by a faulty closure of the embryonic fissure and an abnormal maturation of the cells of the anlage of the optic nerve head.

Adult↗
PubMed1987

Isolated coloboma of the optic nerve head: an echographic evaluation.

The echographic profile of the optic nerve was studied in ten eyes with coloboma of the optic nerve head. Optic nerve dimensions measured with A-scan ultrasonography revealed an increase in the overall diameter of the nerve; B-scan echography was performed in six patients and showed excavation of the optic discs with a double-walled lining posteriorly. Additional B-scan features included widening of the anterior angle of the nerve and random perpendicular echoes in the anterior part of the nerve head. The similarities and differences in echographic pictures observed in coloboma of the optic disc and glaucomatous optic atrophy are described, and the genesis of these ultrasonographic features is discussed.

Coloboma↗
PubMed1987

Computed tomography of optic nerve colobomas, morning glory anomaly, and colobomatous cyst.

CT scanning can be of great value in evaluating optic nerve colobomas, particularly in clinical situations in which corneal, lenticular, vitreal, or other opacities hinder visualization of the optic disc. Experience with the patients presented here demonstrates that CT scanning is useful in the assessment of the presence and size of classic colobomas, morning glory anomaly, and microphthalmos with cyst. It is also of value in assessing associated ocular defects such as microphthalmos, shallow anterior chamber, and atrophic ciliary body.

Child↗
PubMed1987

Remnants of Bergmeister's papilla and retinochoroidal colobomas.

The case of a patient having a Bergmeister's papilla associated with a small retinochoroidal coloboma and multiple pigment epithelial defects in one eye and a retinochoroidal coloboma in the other eye is described. Such abnormalities of neuroectodermal origin probably result from an anomalous maturation of the cells of the proximal part of the embryonic cleft in the sixth week of development.

Adult↗
PubMed1979

[Macula hole as a retinal complication of congenital malformation of optic disk and coloboma choroideae in the same eye (author's transl)].

Case report of a 24-year-old woman with combined ocular malformation: bilateral pits in the optic disc and coloboma of choroidea. Complication: macula hole in the colobom-eye. -- Within 3 years preexistent myopia increased 2 dpt in all. Possibly combination of unphysiological retinal traction by coloboma on the one side and axial myopia on the other side is cause of macula hole.

Abnormalities, Multiple↗
PubMed1983

Optic disc colobomas.

This paper describes optic disc colobomas in a father and his twin sons. Two of the six eyes had associated anterior colobomas (one of the iris and the other of the peripheral retina), and there was evidence of abnormal development of Bergmeister's papilla in the father's left eye.

Child↗
PubMed1983

Uveal coloboma associated with amniotic band syndrome.

A baby girl had constriction bands and digital amputations typical of the amniotic band syndrome, as well as a typical uveal coloboma in a slightly microphthalmic eye. A small, free-floating amniotic band may have lodged in the fetal uveal cleft at 5 to 6 weeks of gestation, preventing closure of the cleft and thus resulting in this first reported instance of an association between amniotic band syndrome and an isolated uveal coloboma.

Amniotic Band Syndrome↗
PubMed1982

Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma.

This communication describes a 7-year-old male with growth and psychomotor retardation and dysmorphic features who has a small terminal deletion of the long arm of chromosome 7. The proband, in addition, had bilateral coloboma of the retina and choroidea which was not reported previously in patients with this rare chromosomal deletion syndrome. Our finding and available data in the literature on the association of the coloboma of the eyes with various chromosomal abnormalities points out the importance of karyotype studies in such patients, especially in the presence of concomitant extraocular findings.

Adult↗
PubMed1982

Surgical management of congenital eyelid coloboma.

Congenital eyelid colobomas are a partial or total absence of eyelid structures. The degree of severity determines the surgical techniques employed for repairing the eyelid. We feel that early surgical treatment reduces the risk of ocular scarring with satisfactory results. We present four cases of congenital upper eyelid colobomas of differing severity and discuss surgical approaches to these lid abnormalities.

Child, Preschool↗