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At least 127 records · Page 7Linked to original sources
PubMed1997

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate.

Ocular colobomas and microphthalmos, isolated or as part of a syndrome, are usually sporadic and only rarely found in large families. A 4-generation family with autosomal dominant uveal coloboma and microphthalmos associated with cleft lip and palate was re-evaluated. Wide variability in expression is evident and more recently recognized manifestations include a complete spectrum of eye involvement, impairment of extraocular movement, mid-frequency sensorineural hearing loss, and hematuria. Learning difficulties requiring remedial teaching were present in one third of those affected and a neural tube defect has occurred in one presumed affected member. This family appears to present a unique phenotype, which provides an opportunity to identify a genetic locus involved in eye, ear, renal, primary palate, and brain development.

Abnormalities, Multiple↗
PubMed1999

Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.

Renal-Coloboma syndrome, an autosomal dominant disorder characterized by colobomatous eye defects, vesicoureteral reflux, and abnormal kidneys, results from mutations in PAX2. The purpose of this study was to identify mutations in PAX2 and understand the associated patient phenotypes. We report a severely affected girl and a mildly affected mother and daughter, all of whom have PAX2 homoguanine tract (7 G) missense mutations. The mother and daughter have optic nerve colobomas and the daughter has vesicoureteral reflux. The severely affected girl developed renal failure and has bilateral colobomatous eye defects. Additionally, this girl developed hydrocephalus associated with platybasia and a Chiari 1 malformation. We examined genomic DNA from these individuals by SSCP and sequencing. The mother and daughter had a novel mutation: a contraction in a string of 7 G's to 6 G's in one allele of PAX2, leading to a premature stop codon two amino acids downstream. The severely affected girl had an expansion to 8 G's, leading to a premature stop codon 27 amino acids downstream. The 8 G expansion has been found in other patients without brain anomalies and has occurred spontaneously in a mouse model, PAX2(1Neu). We expand the known phenotype associated with mutations in PAX2 to include brain malformations. The homoguanine tract in PAX2 is a hot spot for spontaneous expansion or contraction mutations and demonstrates the importance of homonucleotide tract mutations in human malformation syndromes.

Abnormalities, Multiple↗
PubMed2001

Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family.

Renal-coloboma syndrome includes abnormalities in the urogenital and ocular systems as its primary manifestations, although it can be associated with abnormalities in other systems as well. This syndrome is caused by mutations in the PAX2 gene and is transmitted as an autosomal dominant trait. We report a family in which at least 7 members have manifestations of renal-coloboma syndrome, including two in whom renal disease was diagnosed prenatally by ultrasound examination. A pathogenic frame-shift mutation (619insG) was found in the PAX2 gene in affected family members, who show remarkable variability in both the ocular and renal manifestations of the syndrome.

Adolescent↗
PubMed1981

Possible autosomal-recessive ocular coloboma.

Ocular coloboma as an isolated anomaly often is inherited as an autosomal dominant trait. Possible autosomal recessive inheritance is suggested by the presence of colobomatous malformations in a brother and sister whose parents have apparently normal eyes. Possible genetic heterogeneity of isolated ocular coloboma makes genetic counseling in sporadic cases difficult since cases may be due to autosomal dominant and autosomal recessive mutations and nongenetic causes.

Child, Preschool↗
PubMed1989

Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis.

Three children are described from two sibships. They share infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate mental retardation. One of them had a kidney biopsy that showed mild interstitial fibrosis and amyloid deposit, but had no functional impairment. Another suffered moderate proximal tubular acidosis. Two children had unilateral or bilateral choroidal coloboma. This pattern of defects is consistent with a syndrome previously reported in two other sibships. The acronym COACH (Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma, Hepatic fibrocirrhosis) is suggested.

Adolescent↗
PubMed1995

Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

We describe a father and 3 sons with optic nerve colobomas, vesicoureteral reflux, and renal anomalies. The youngest son had congenital renal failure and ultimately underwent renal transplantation. The father and one son had high frequency hearing loss. There were no other affected relatives. We conclude that the association of optic nerve colobomas, renal anomalies, and vesicoureteral reflux comprises a unique autosomal dominant syndrome. Molecular investigations have determined this disorder to be associated with a single nucleotide deletion in the PAX2 gene.

Abnormalities, Multiple↗
PubMed2001

[LEOPARD syndrome with iris-retina-choroid coloboma. Discordant findings in monozygotic twins (MIM # 151 100)].

INTRODUCTION: The LEOPARD syndrome is an autosomal dominant inherited disease with severe lentiginosis associated with various abnormalities such as electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia, retardation of growth and deafness. Ocular manifestations such as coloboma of the iris, the retina and the choroid have not been reported so far. PATIENTS: We report the cases of two 10-year-old identical twins and their mother, showing typical manifestations consistent with the LEOPARD syndrome. Additionally, colobomas of the iris, the retina and the choroid were detected. RESULTS: In addition to the findings typical for the LEOPARD syndrome, we observed unusual ocular abnormalities in all three patients. It represents a discordant phenotype in monozygotic twins. CONCLUSION: LEOPARD syndrome is a disease with multiple alterations and abnormalities. Although ocular malformations seem to be rare, an ophthalmological examination is recommended in order to initiate early visual rehabilitation.

Adult↗
PubMed1996

Hydrolethalus: a midline malformation syndrome with optic nerve coloboma and hypoplasia.

Ophthalmic pathological findings of hydrolethalus, a midline malformation syndrome, were determined in three fetuses aborted between the 14th and 19th gestational week. The eyes were serially sectioned and analyzed using light microscopy and a panel of 13 antibodies to neuronal, glial, epithelial, and mesenchymal elements of the eye. The general morphological and antigenic development of the anterior segment, retina and choroid were normal, but some lens fibers were vacuolated and irregular in all eyes. A coloboma of the optic nerve was constant and corresponded in its severity to the systemic manifestations. It ranged from segmental dysplasia of the optic nerve head to a colobomatous orbital cyst with secondary microphthalmos and deranged development of the eye. Glial tissue extended through a defect in the sheaths of the optic nerve in three eyes, communicating with retinoblastic tissue in the orbit. Evidence of secondary optic nerve hypoplasia was present in all eyes, and a separate chorioretinal coloboma was present in one eye. Ocular anomalies should be considered one hallmark of hydrolethalus syndrome, and they may help to differentiate it from other overlapping malformation syndromes. In particular, colobomatous dysplasia and hypoplasia of the optic nerve seem to be typical of hydrolethalus syndrome. Histopathological studies of the eyes may help the neuropathologist in making the differential diagnosis of midline malformation syndromes.

Abnormalities, Multiple↗
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↗
PubMed2005

Surgical approach in a rare case of coloboma-choristoma.

Embryogenic eyelid defects can be isolated or associated with malformative diseases, such as Tessier craniofacial clefts. We describe the exceptional coexistence of upper eyelid coloboma and lower eyelid dermolipoma in a 45-day-old infant with a Tessier no. 0-1 cleft. The surgical intervention carried out on this patient, which used a flap of subconjunctival choristoma and grafting of reshaped cutaneous and tarsal portions of a preauricular anlage, is presented as a technique for correcting congenital palpebral coloboma. Adoption of this technique allowed virtually complete repair of the defect and gave an acceptable functional and cosmetic result.

Abnormalities, Multiple↗
PubMed2003

Congenital iris coloboma repair using a modified McCannel suture technique.

PURPOSE: To report a repair of congenital iris coloboma using a modified McCannel suture technique. DESIGN: Interventional case report. METHODS: Retrospective intervention procedure. RESULTS: Postoperative repair resulted in restoration of pupil, anterior support of posterior chamber intraocular lens, and improved appearance. CONCLUSIONS: The modified McCannel suture technique provides acceptable functional and cosmetic repair of congenital iris colobomas.

Cataract Extraction↗
PubMed1981

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.

We report 21 patients with choanal atresia or ocular coloboma or both who have certain other associated anomalies, including congenital heart disease, postnatal growth deficiency, mental retardation and/or CNS anomalies, microphallus and cryptorchidism, and ear anomalies and/or deafness. Facial palsy, micrognathia, cleft palate, and swallowing difficulties were also common. It has not been possible to define a single etiology or a syndrome in these patients. We propose the mnemonic CHARGE (C-coloboma, H-heart disease, A-atresia choanae, R-retarded growth and retarded development and/or CNS anomalies, G-genital hypoplasia, and E-ear anomalies and/or deafness) to describe the features of this association.

Abnormalities, Multiple↗
PubMed2004

Wolf-Hirschhorn syndrome with posterior intraorbital coloboma cyst: an unusual case.

Wolf-Hirschhorn syndrome (WHS) is associated with partial deletion of short arm of chromosome 4, and characterized by severe growth retardation. Other characteristic features are microcephaly, intellectual handicap, Greek helmet facies and closure deficits such as cleft lip or cleft palate, coloboma of the eye, and cardiac septal defect. We herein present a new case of WHS with bilateral iris colobomata and a left intraorbital large coloboma cyst causing exophthalmos.

Abnormalities, Multiple↗
PubMedDate not supplied

Electroretinogram and visual-evoked potentials in children with optic nerve coloboma.

The aim was to evaluate alterations in Visual-Evoked Potentials (VEP) and Electroretinogram (ERG) and discover whether these tests are useful for determining residual visual acuity in cases where a patient is unable to collaborate. Flash and, when possible, Transient Pattern Reversal Visual-Evoked Potentials and Maximal Response ERG were recorded in 8 children (under three years old) affected by different aspects of optic nerve coloboma. None of them had visual acuity evaluated because of poor collaboration. All examinations were carried out using skin electrodes. Amplitude of the a and b component of ERG, amplitude, morphology and latency of the major components of Flash VEP and amplitude and latency of P100 Pattern Reversal VEP were evaluated. Four of the patients were examined three years later and visual acuity was compared with the previous electrofunctional results. Alterations in ERG were found only in the case of significant retinal anomalies (great coloboma, retinal detachment), huge alterations were found in both Flash VEP and in Pattern Reversal VEP. The retrospective study of VEP traces and visual acuity showed a good correlation between electrofunctional data and visual capability. Electrofucntional examinations can identify important conductive retinocortical anomalies. The possibility of correlating electrophysiological results with residual visual acuity is important for rehabilitative management in such optic disc malformations.

Child, Preschool↗
PubMedDate not supplied

Laser treatment of a subretinal neovascular membrane associated with retinochoroidal coloboma.

Subretinal neovascularization associated with retinochoroidal coloboma is a rare finding. Only two other cases have been reported in the literature, neither of which were treated with photocoagulation. Here, the author reports a case of subretinal neovascular net associated with a retinochoroidal coloboma, which was treated with laser photocoagulation. The patient's vision improved from 20/200 to 20/30-1 following two argon green laser treatments, with a 33-month follow-up since the initial treatment.

Adult↗