Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Coloboma”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

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

At least 55 records · Page 3Linked to original sources
PubMed1989

[Retinal detachment associated with coloboma of choroid].

Retinal detachment associated with congenital coloboma of choroid is an unusual type of the disease 32 cases (34 eyes), or 1.23% of all 2,602 cases of retinal detachment, were operated on during 1980 to 1986. 17 (53%) patients were under 20 years of age and 28(88%) under 30 years. Preoperative visual acuities ranged from light perception to 0.2, and 25 eyes(74%) under 0.05. The associated congenital abnormalities were coloboma of iris in 32 eyes(94%), cataract in 25(74%), microcornea in 17(50%), and nystagmus in 13(38%). The detection of breaks in the rudimentary retina was extremely difficult, with a positive rate of only 56%, and immediate operative success was obtained in 18 eyes(53%), which were followed up for an average 36 months with re-detachment in 5 eyes. The rate of long term operative success was 38%. With the choroidal coloboma below the optic disc, the retinal breaks outside of the coloboma or in the coloboma near the edge, or the detachment involving at most 3 quadrants of the fundus, the rates of operative success were 81%, 70%, and 100% respectively.

Adolescent↗
PubMed1997

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

Renal-coloboma syndrome is a recently described autosomal dominant syndrome of abnormal optic nerve and renal development. Two families have been reported with renal-coloboma syndrome and mutations of the PAX2 gene. The PAX2 gene, which encodes a DNA-binding protein, is expressed in the developing ear, CNS, eye, and urogenital tract. Ocular and/or renal abnormalities have been consistently noted in the five reports of patients with renal-coloboma syndrome, to date, but PAX2 expression patterns suggest that auditory and CNS abnormalities may be additional features of renal-coloboma syndrome. To determine whether additional clinical features are associated with PAX2 mutations, we have used PCR-SSCP to identify PAX2 gene mutations in patients. We report here four patients with mutations in exon 2, one of whom has severe ocular and renal disease, microcephaly, and retardation, and another who has ocular and renal disease with high-frequency hearing loss. Unexpectedly, extreme variability in clinical presentation was observed between a mother, her son, and an unrelated patient, all of whom had the same PAX2 mutation as previously described in two siblings with renal-coloboma syndrome. These results suggest that a sequence of seven Gs in PAX2 exon 2 may be particularly prone to mutation.

Abnormalities, Multiple↗
PubMed1998

[Characteristics of retinal detachment in eyes with choroidal colobomas].

We reviewed 6 eyes of 6 patients (1 male and 5 females) with retinal detachment associated with choroidal coloboma. Three of these 6 eyes had visible retinal breaks within or at the margin of the coloboma. In one eye, no retinal breaks were noted before or during vitreous surgery, and shallow retinal detachment was localized in the posterior fundus. One eye with bullous retinal detachment with retinal breaks within the coloboma had been having serous retinal detachment localized in the nasal area close to the optic nerve head. In all of these five eyes; vitrectomy, relaxing retinotomy inside the coloboma close to its edges, and cyanoacrylate retinopexy resulted in successful reattachment of the retina. Schisis-like separation similar to that in pit-macular syndrome was noted in the posterior retinal in one eye which had no visible retinal break. Non-rhegmatogenous retinal detachment may exist in association with choroidal colobomas.

Adolescent↗
PubMed1984

Coloboma of optic nerve associated with serous maculopathy. A clinicopathologic correlative study.

A rhesus monkey with a congenital coloboma of the optic nerve head associated with serous macular detachment underwent intravenous (IV), intrathecal, and retrobulbar fluorescein angiography. No fluorescein leaked beneath the serous detachment after IV or intrathecal injection, although the retrobulbar injection caused a bolus to extravasate from the margin of the optic nerve coloboma, drifting toward the macular region temporally. Histopathologically, glial tissue replaced optic nerve axonal bundles in the temporal coloboma. The intermediary tissue of Kuhnt was disrupted, and fluid from the retrobulbar space diffused into the subretinal space temporally, where a localized retinal detachment extended from the optic nerve to the macula. Subretinal fluid in the macula associated with optic nerve coloboma might derive from (1) fluid perfusing into the retrobulbar space from surrounding orbital tissue, (2) peripapillary choriocapillaris, or (3) CSF.

Animals↗
PubMed1981

Brief Clinical Report: coloboma hypospadias.

We report a five-year-old boy with bilateral ocular coloboma, hypertelorism, hypospadias, and mental retardation. The father has hypertelorism and a deceased sibling had unilateral iris coloboma. This observation my represent 1) the BBB syndrome with coincidentally segregating coloboma; 2) discovery of coloboma as a new but rare component manifestation of the BBB syndrome; or 3) a new autosomal dominant pleiotropic syndrome.

Child↗
PubMed1995

Schisis-like rhegmatogenous retinal detachment associated with choroidal colobomas.

BACKGROUND: The breaks that cause retinal detachments in colobomatous eyes are often hidden within the lesion and difficult to find. METHOD: To elucidate the pathoanatomy and possible pathomechanism of such detachments, histological sections of eight choroidal colobomas were reviewed. RESULTS: Sections of the margin showed central continuation of the inner neuroblastic layer (the intercalary membrane) and eversion and separation of the outer neuroblastic layer. The opposite direction of continuity of the neuroblastic layers created a schisis-like configuration between the intercalary membrane and the everted outer retina. The zone of duplication was a point of retinal adhesion, but also a locus minoris resistentiae due to vitreous attachments and variable glial support at the margin. CONCLUSION: The subset of coloboma-associated retinal detachments requires both a central break in the inner layer and a break in the outer layer at the margin of the coloboma. The inner layer break may be precipitated by retinovascular ischemia or scleral stretching; that in the outer layer may be caused by vitreous traction on the margin of the coloboma or extension of the formerly isolated detachment through the outer marginal zone of decreased glial support.

Child, Preschool↗
PubMedDate not supplied

Ocular coloboma.

Ocular coloboma is common malformation which includes a spectrum of anomalies that ranges from iris coloboma to clinical anophthalmos. Coloboma is etiologically heterogeneous. As an isolated defect, it is usually inherited as an autosomal dominant disorder, although autosomal recessive inheritance also occurs. Patients with multiple malformations and coloboma may have a recognized malformation syndrome of unknown etiology, a single gene disorder, or chromosomal abnormality. Prognosis and recurrence risk can be determined only after complete evaluation of the patient and other family members.

Child↗
PubMedDate not supplied

Anterior coloboma with macrophthalmos and cyst: MR findings.

Coloboma is one of the congenital ocular malformations presenting important diagnostic and therapeutic problems, especially in infants. Coloboma can be associated with microphthalmia frequently and macrophtalmia rarely. However, the association of coloboma, macrophthalmia, and orbital cyst was not reported previously in the literature. A case of coloboma associated with macrophtalmia and cyst was presented, and MR findings of this anomaly was defined with emphasis to the importance of radiologic examinations in the diagnosis of some congenital ocular malformations.

Coloboma↗
PubMed2006

Surgical technique for congenital iris coloboma repair.

We describe a surgical technique for managing congenital iris coloboma. After phacoemulsification with placement of an intraocular lens in the capsular bag, coloboma repair is begun by bisecting the iris sphincter on both sides of its attachment near the chamber angle. The iris leaflets central to the sphincterectomies are approximated using a 10-0 polypropylene suture (Prolene, Ethicon, Inc.) and a modified Siepser pupilloplasty technique. The remaining peripheral iris defect is closed in a similar fashion. In patients with congenital iris coloboma, phacoemulsification with in-the-bag IOL implantation followed by this pupilloplasty technique was effective in providing functional and cosmetic repair of a congenital iris coloboma.

Adult↗
PubMed2001

Congenital intraocular teratoma associated with eyelid coloboma.

PURPOSE: To describe the first case of intraocular teratoma associated with eyelid coloboma and the second reported case of intraocular teratoma. DESIGN: Interventional case report. METHODS: A left intraocular tumor was surgically resected from a 2-day-old female with an associated lower eyelid coloboma. RESULTS: Pathologic evaluation revealed a completely intraocular tumor comprising derivatives of all three germ cell layers giving a diagnosis of intraocular teratoma. The eyelid coloboma was repaired, and a scleral-wrapped hydoxyapatite-integrated orbital implant was placed. CONCLUSION: To our knowledge, this is the second reported instance of teratoma originating within the globe and the only reported case of teratoma associated with eyelid coloboma. Although exceedingly rare, intraocular teratoma should be added to the differential diagnosis of congenital intraocular tumors.

Coloboma↗
PubMed2003

Choroidal neovascular membrane associated with optic nerve coloboma in a patient with CHARGE association.

PURPOSE: To report a patient with CHARGE association (coloboma, heart disease, choanal atresia, growth retardation, genital hypoplasia, and ear abnormalities) who developed a choroidal neovascular membrane in association with an optic nerve coloboma. DESIGN: Interventional/observational case report. METHOD: A 21-month-old boy with CHARGE association developed a grayish choroidal neovascular membrane associated with lipid exudation, subretinal fluid, and retinal hemorrhage at the temporal edge of his right optic nerve coloboma. RESULTS: The patient underwent transpupillary diode laser of the choroidal neovascular membrane. Five months later, it and the serous retinal detachment had resolved. CONCLUSIONS: Patients with CHARGE association may develop choroidal neovascular membrane with serous retinal detachments in association with optic nerve colobomas. These neovascular membranes may be treated successfully with transpupillary diode laser.

Abnormalities, Multiple↗
PubMed2000

Progressive optic nerve cupping and neural rim decrease in a patient with bilateral autosomal dominant optic nerve colobomas.

PURPOSE: To document progressive optic nerve cupping and neural rim decrease in a patient with normal intraocular pressures and bilateral autosomal dominant optic nerve colobomas. METHODS: The ophthalmology records, stereoscopic fundus photographs, and visual fields of a 27-year-old woman with familial (autosomal dominant) optic nerve colobomas were reviewed. The appearance of the optic nerves was documented over a 13-year period (1985 to 1998). RESULTS: Despite repeatedly normal intraocular pressures, the patient showed progressive optic nerve cupping and neural rim decrease in both eyes. Visual field testing was available over a 5-year period (1993 to 1998) and was abnormal, but no progression was seen. CONCLUSIONS: This case of progressive cupping and neural rim decrease in a patient with autosomal dominant optic nerve coloboma in both eyes may provide insight into the optic nerve cupping associated with normal tension glaucoma. Careful follow-up of patients with optic disk colobomas or patients is indicated to detect possible optic nerve changes or field loss.

Adult↗
PubMedDate not supplied

The management of retinal detachments associated with choroidal colobomas by vitrectomy with cyanoacrylate retinopexy.

The techniques used and the outcome in eyes treated for retinal detachment associated with choroidal coloboma are described. We reviewed the medical reports on five eyes of five patients with retinal detachment associated with choroidal coloboma who underwent vitrectomy. Retinal breaks were identified at the margin of or within the coloboma and the retina was successfully reattached by vitrectomy and cyanoacrylate retinopexy in four of the five eyes. The remaining one eye, with no visible retinal break both before and during surgery, also underwent cyanoacrylate retinopexy at regions suspected of retinal break, and was successfully reattached. In four eyes (80%) the vision showed improvement and had a visual acuity of 20/100 or better after surgery. None of the eyes required silicone oil tamponade or endophotocoagulation around the disc or at the papillomacular bundle. For the management of retinal detachment associated with choroidal coloboma, cyanoacrylate retinopexy is the method of choice, providing adequate chorioretinal adhesion and satisfactory visual outcome.

Adolescent↗
PubMed1986

Corneal changes in familial iris coloboma.

We recently studied members from a family with autosomal dominant iris coloboma. All affected members had either unilateral or bilateral iris coloboma and bilateral peripheral corneal changes indistinguishable from those seen in aniridia. The corneal changes consisted of well-demarcated pannus-like growths extending from the limbus onto the peripheral cornea for 360 degrees without any stromal vascularization. In one adolescent member, bilateral lenticular opacities limited to the meridian of the colobomata were seen. No members had primary glaucoma, macular or optic disc hypoplasia, nystagmus, or extraocular malformations. The coexistence of iris coloboma and aniridia-like corneal changes may imply that ocular coloboma and aniridia comprise a continuous spectrum of the same developmental defect or, alternatively, such corneal changes constitute a nonspecific manifestation of iris developmental defects in general.

Adolescent↗
PubMed1998

Surgical management of retinal detachments related to coloboma of the choroid.

OBJECTIVE: This study aimed to develop a rationale for the management of retinal detachments related to choroidal coloboma and to study the outcome of their management. DESIGN: The study design was a retrospective study. PARTICIPANTS: A total of 85 eyes of 81 patients with retinal detachments related to coloboma of the choroid participated. INTERVENTION: All eyes underwent pars plana vitrectomy with internal tamponade using silicone oil (80 eyes) or perfluropropane gas (5 eyes). Behavior of the retina on fluid-air exchange was used to guide the further steps of surgery. Endolaser was performed along the coloboma border. Silicone oil was removed in 80% of eyes. The main outcome measures were retinal reattachment and visual recovery. RESULTS: Recurrent retinal detachment occurred in 16.3% of silicone oil-filled eyes and 60% of gas-filled eyes. After silicone oil removal, 15.6% of eyes had recurrent retinal detachment. After a mean follow-up of 13.4 months, 81.2% of eyes had attached retina and 69.4% recovered equal to or better than 10/200 visual acuity. CONCLUSION: Retinal detachment secondary to coloboma of choroid is treated best by pars plana vitrectomy along with silicone oil tamponade. Gas tamponade has limited indications. Clinical evaluation of the extent of retinal detachment within the colobomatous area and the behavior of the retina on fluid-air exchange help the authors understand the pathogenesis of the retinal detachment and plan a rational therapy.

Adolescent↗
PubMed2001

Expression of catecholaminergic mRNAs in the hyperactive mouse mutant coloboma.

The SNAP-25 deficient mouse mutant coloboma (Cm/+) is an animal model for investigating the biochemical basis of locomotor hyperactivity. The spontaneous hyperactivity exhibited by coloboma is three times greater than control mice and is a direct result of the SNAP-25 deletion. SNAP-25 is a presynaptic protein that regulates exocytotic neurotransmitter release; coloboma mice express only 50% of normal protein concentrations. Previous research has determined that there is an increase in the concentration of norepinephrine but a decrease in dopamine utilization in the striatum and nucleus accumbens of coloboma mice. In situ hybridization analysis revealed that there were corresponding increases in tyrosine hydroxylase (TH) mRNA expression in noradrenergic cell bodies of the locus coeruleus of Cm/+ mice. In contrast, TH mRNA expression in substantia nigra appeared normal in the mutant mouse. alpha(2)-Adrenergic receptors are important modulators of central noradrenergic function and dopamine release. In situ hybridization data revealed that alpha(2A)-adrenergic receptor mRNA expression is upregulated in Cm/+ mice. These results suggest an underlying abnormality in noradrenergic regulation in this hyperactive mouse mutant.

Animals↗
PubMed1999

Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.

Optic nerve coloboma combined with renal disease, also called renal-coloboma syndrome ( # 120330 in McKusick's Mendelian Inheritance in Man Online, OMIM), a relatively recently characterized syndrome, results from autosomal dominant mutations in the PAX2 gene. Although renal-coloboma syndrome involves both ocular and renal anomalies, some patients are affected with vesico-ureteral reflux (VUR), high frequency hearing loss, central nervous system (CNS) anomalies, and/or genital anomalies, consistent with the expression of PAX2 in these tissues during development. We review here the clinical features of patients with renal-coloboma syndrome and PAX2 mutation. We also review the PAX2 mutations that have been reported to date, and discuss the possible effect of PAX2 mutations on normal development.

Abnormalities, Multiple↗
PubMed2002

Multiple ocular colobomas in the snow leopard (Uncia uncia).

Two singleton female snow leopard cubs are reported with bilateral central upper lid colobomas. In addition, one cub had a coloboma of the fundus in one eye extending from the lower optic disc region. Surgical treatment by wedge resection was successful in both cases. Details of ocular colobomas in other snow leopards reported in the literature are described and it is suggested that the exact etiology of the condition in this species may be discovered by further study of similar colobomas in the domestic cat.

Animals↗