PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Coloboma”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources
PubMed1978

[Double optic papilla in eye coloboma (author's transl)].

The article reports on a 4-year-old girl with multiple congenital malformations. Ophthalmological examination revealed microphthalmia, bilateral colobomas of iris, leukoma of the right eye, convergent strabismus in the left eye. An oval salmon-coloured area was seen at the fundus of the left eye where the retinal vessesl proceed into the depth. There was no vascular infundibulum. A papilla-like cavity was seen at the bottom left of the coloboma (possibly a circulus zinnii, also called circulus vasculosus nervi optici, may be present). Both papillae are connected with each other by means of a vein. This patient, therefore, presented an extremely rare case of malformation with two papillae in one coloboma.

Abnormalities, Multiple↗
PubMed1978

[On the aetiology of coloboma of the lens (author's transl)].

The contrast is described between two different types of coloboma of the lens: congenital and traumatic origin. The former is combined with epicanthus, unilateral coloboma of iris, retina and choroid. There seems to be a close relation between coloboma of the lens and a defect of the zonule at least during growth of lens.

Adult↗
PubMed1976

[Tuberous sclerosis with megalocornea and coloboma of the iris (author's transl)].

A mentally and physically retarded 4 1/2 year-old boy with epileptic seizures showed a megalocornea on both sides, a coloboma of the iris in the right eye and a white area at the temporal side of the disc in the left eye. At first a coloboma of the disc was suspected. By further controls at the age of 8 years a typical two diopters elevated nodular opaque white mass was seen in place of the white area in the left eye, in addition two flat tumours were also seen. In the right eye with coloboma of the iris there was also a flat area. Radiographically the right kidney showed two ureters with flat calyces. At the age of 8 years symmetrical face naevi occurred only under atropine medication, and showed at the age of 10 years the typical picture of Pringle's tumours.

Abnormalities, Multiple↗
PubMed1976

Optic nerve colobomas of autosomal-dominant heredity.

Fifteen members of a family had congenital colobomas of the optic nerves, all of which were bilateral. The bolobomas appeared as enlargement of the physiologic cup with severely affected eyes having huge cavities in the site of the disc. A variable amount of glial tissue was present within the colobomas. Either macular or extramacular serous detachment or sequelae were present in 21 of the 30 affected eyes, and often led to total blindness. Radioisotope cisternography in one patient failed to implicate cerebrospinal fluid as the source of the subretinal fluid. The disorder is apparently inherited as an autosomal dominant.

Adolescent↗
PubMed1977

Macular colobomas in Leber's congenital amaurosis.

Two siblings with Leber's congenital amaurosis had the unusual association of bilateral macular colobomas. In addition to the colobomas, the patients also had deafmutism, severe myopia, large corneas, and an unusual discrete area of peripapillary tapetoretinal sheen. Electrodiagnostic evaluation of patients with congenitally poor visual ascuity and a central retinal defect differentiated a localized loss of funciton from a degeneration involving the entire retina.

Adult↗
PubMed1977

Coloboma in progressive hemifacial atrophy.

Over a seven-year period, a 22-year-old woman developed clinical linear scleroderma with associated ipsilateral coloboma of the upper eyelid, blepharoptosis, enophthalmos, and impairment of extraocular motility. Reconstructive surgery included correction of the enophthalmos by Silastic block implant, closure of the coloboma, and resection of the levator palpebrae superioris muscle for correction of the blepharoptosis.

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↗
PubMed1977

A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis.

A new syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis has been described. The family history suggests either an autosomal dominant mode of inheritance with limited expression in females or X-linkage. Other syndromes with similar phenotypes and modes of inheritance are discussed. The need for accurate and complete family histories in cases involving cleft palate and cleft lip/palate is discussed in relation to genetic counselling and recurrent risk estimates.

Abnormalities, Multiple↗
PubMedDate not supplied

Surgical repair of congenital colobomas.

Congenital colobomas usually occur as full-thickness defects of the medial third of the upper lid and are commonly associated with a benign dermoid at the apex. Exposure keratopathy and corneal trauma are rare; however, it can be prevented with the Expo Bandage--Bubble (Fig 18). Periodic examinations should also be performed. Surgical resonstruction should be performed at approximately 3 to 6 months of age and primary closure should be attempted initially. Lateral cantholysis, lid-sharing surgery, and external levator resection may be required to correct the residual deformity.

Abnormalities, Multiple↗