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At least 19 recordsLinked to original sources
PubMed1998

The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.

The PAX2 gene is mutated in patients with ocular colobomas, vesicoureteral reflux (VUR), and kidney anomalies (renal-coloboma syndrome, OMIM 120330). The three abnormalities which make up this syndrome also occur in isolation, but the causal genes are not known. PAX2 encodes a transcription factor of the paired box class of DNA binding proteins, important for the development of the urogenital tract, optic nerve and adjacent retina, inner ear, and CNS. In this paper we have investigated the prevalence of PAX2 mutations in patients with ocular colobomas, microphthalmos, or retinal anomalies, either in isolation or with associated urogenital anomalies. Using PCR-SSCP, most or all exons of PAX2 were examined in blood DNA from 99 patients who have either ocular anomalies alone or a combination of ocular and urogenital conditions. PAX2 mutations were not detected in patients with ocular colobomas, either in isolation or with associated abnormalities, except in one patient with typical renal-coloboma syndrome. We conclude that PAX2 mutations are unlikely to be common in patients with ocular colobomas in isolation or in patients with ocular colobomas and associated anomalies, except for patients with typical renal-coloboma syndrome where PAX2 is known to be the aetiological cause.

Abnormalities, Multiple↗
PubMed2006

A newly established mutant strain with mild-type ocular coloboma (retinochoroidal coloboma without microphthalmia) in albino mice.

BACKGROUND: A complicated malformation of the fundus accompanied by typical ocular coloboma was detected in albino fatty liver Shionogi (FLS) mice. We elucidated a new type of 3-dimensional anomalous structure inside the eye in this mouse strain. METHODS: The fundi of FLS mice aged 1, 3, 5, and 20 weeks were observed intensively, both macroscopically and by light microscopy. For the prenatal study, coronal serial sections of eyes of FLS embryos were examined by light microscopy on gestation day (GD) 15.0. RESULTS: The frequency of ocular coloboma was almost 70% in FLS mice, and the inheritance mode of this anomaly is suggested to be autosomal recessive with incomplete penetrance. Stereoscopic observation and light microscopy revealed that the mice had characteristic fundus features at any age during the postnatal period. Following ectopic ciliary epithelia, the surface of the retina protruded like a roof, and on the opposite side of the "roof," a translucent membrane without retinal tissue and choroidal tissue was also consistently detected in the inferior part of the fundus. On GD 15.0, the inner layer and the outer layer were not normally fused at the optic fissure, where a part of the outer layer was absent and the irregular fold of the inner layer was conspicuous in the colobomatous eye of the FLS embryo. CONCLUSIONS: The characteristics of the ocular coloboma in FLS mice are thought to be similar to a mild-type malformation in humans. These ocular defects seem to be situated along the failed fetal optic fissure.

Albinism↗
PubMed1982

The nasopalpebral lipoma-coloboma syndrome: a new autosomal dominant dysplasia-malformation syndrome with congenital nasopalpebral lipomas, eyelid colobomas, telecanthus, and maxillary hypoplasia.

We describe a new autosomal dominant dysplasia-malformation syndrome from eight affected individuals in three generations of a Venezuelan family. It is characterized by congenital symmetrical upper lid and nasopalpebral lipomas, bilateral symmetrical upper and lower palpebral colobomas located at the junction of the inner and middle thirds of the lids, telecanthus, and maxillary hypoplasia. Affected individuals have a broad forehead, window's peak, abnormal pattern of eyebrows and eyelashes, and maldevelopment of the lacrimal punctae. Interorbital distance is normal, but interpupillary distance is increased due to divergent strabismus originating from visual interference from inner canthal masses. Persistent epiphora, conjunctival hyperemia, and corneal (and less frequently lens) opacities are a secondary consequence of the defect of the lacrimal punctae and the inability to close the lids completely. The syndrome has complete penetrance and a rather narrow range of expressivity. The primary defect could involve a dysplasia of adipose tissue leading to nasopalpebral and upper lid lipomas during embryogenesis, with the rest of the malformations being secondary to interference of morphogenesis of the mid-upperface developmental field from the lipomatous hamartomas. Alternatively, a central rather than a peripheral mechanism of malformation might be considered, such as defective migration of neural crest cells.

Abnormalities, Multiple↗
PubMedDate not supplied

Duplication of the optic disc: true or pseudo? A coloboma or not a coloboma?

PURPOSE: To present an unusual case of optic disc pseudoduplication with colobomata. METHODS: Clinical evaluation, fundus photography and literature review. RESULTS: Optic disc duplication is a rare clinical entity. CONCLUSIONS: We report what we believe to be the first case of pseudoduplication of the optic disc with coexistent bilateral optic disc colobomata.

Child↗
PubMed2000

Visual acuity in children with coloboma: clinical features and a new phenotypic classification system.

OBJECTIVE: The aims of this study were to describe the clinical features and biometric findings in the eyes of children with coloboma and to develop a classification of coloboma that correlates with visual function. DESIGN: Retrospective observational case series. PARTICIPANTS: One hundred thirteen children and young adults (48 female, 65 male) aged 0 to 20 years with 196 eyes having coloboma. METHODS: Children with coloboma were recruited from schools for the blind, integrated education programs, schools for the mentally handicapped, community-based rehabilitation services, and hospital clinics in Andhra Pradesh, India, between January 1998 and January 1999. Visual function was assessed, including distance and near visual acuity (VA), and navigational vision. The corneal diameter and axial length of eyes were measured wherever possible. MAIN OUTCOME MEASURES: Anatomic site of coloboma, association with microcornea and/or microphthalmos, VA, presence of navigational vision and reading vision. RESULTS: Of 196 eyes with colobomatous malformations, 11 had microphthalmos with cyst, and 185 eyes had coloboma (associated with microcornea in 155 eyes and with a normal corneal diameter in 30). Microphthalmos was present in 72 of the 185 eyes with coloboma, of which 71 of 72 also had microcornea. The prognosis for vision depended on the phenotype of the better eye. Microphthalmos with cyst had the worst prognosis (VA < 3/60, 100%; reading and navigational vision, 0%). Microcornea with microphthalmos had a worse prognosis than microcornea without microphthalmos (VA < 3/60: 66.7% vs. 23.3%; unable to read N10: 66.7% vs. 34.1 %; no navigational vision: 30.6% vs. 6.73%). Simple coloboma (no microcornea or microphthalmos) had the best prognosis (VA < 3/60: 6.7%; able to read N10: 93.3%; navigational vision: 100%). A corneal diameter <6 mm had a poor visual prognosis, whereas a corneal diameter >10 mm had a good prognosis. CONCLUSIONS: A phenotypic classification of coloboma is proposed, which in this study showed a good correlation with visual acuity, reading, and navigational vision. Microphthalmos with cyst had the worst prognosis, coloboma with microcornea and microphthalmos a poor prognosis, coloboma with only microcornea had an intermediate prognosis, and simple coloboma had the best prognosis.

Adolescent↗
PubMed1996

Optic disc in fundus coloboma.

PURPOSE: To categorize and describe the type of optic disc involvement and blood vessel patterns seen in patients with fundus coloboma. METHODS: This is a prospective study involving 67 eyes of 40 patients with choroidal coloboma. The evaluation included documentation of fundus details using fundus drawings or photographs, or both. RESULTS: Six types of disc involvement were identified: (1) normal disc outside fundus coloboma (27.8%); (2) disc outside the fundus coloboma and abnormal (10.4%); (3) disc outside the fundus coloboma and independently colobomatous (8.9%); (4) disc within the fundus coloboma and normal (5.0%); (5) disc within the fundus coloboma and colobomatous (44.3%); and (6) disc shape not identified but blood vessels seen emanating from the superior border of the large fundus coloboma (2.9%). Visual acuity was better in types I, II, and III compared with IV, V, and VI. Microphthalmos was more common with the more severe anomalies. High myopia was more common in the less severe anomalies. CONCLUSION: Optic disc involvement in fundus coloboma is widely variable. Of fundus colobomas, 67.2% are associated with either a frankly colobomatous or an altered disc. Of the discs located outside fundus colobomas, 41% are also abnormal. Visual acuity was better in types I, II, and III.

Adolescent↗
PubMed2006

A clinical and optical coherence tomography study of the margins of choroidal colobomas.

OBJECTIVE: To describe the features at the margin of the choroidal colobomas as evaluated clinically and by optical coherence tomography (OCT). DESIGN: Prospective observational case series. PARTICIPANTS: Seventeen patients (30 eyes) that presented to the outpatient department of a tertiary care center. TESTING: Clinical examination and OCT testing of the 30 eyes. MAIN OUTCOME MEASURES: Description of OCT features of the margin of the choroidal colobomas. RESULTS: Histologically, there is no normal choroid, retinal pigment epithelium, or retina overlying choroidal colobomas; rather, the overlying tissue is an extension of the retina called the intercalary membrane (ICM). In these patients, OCT showed that transition from normal retina to the ICM could be categorized as abrupt or gradual and also showed that the inner neurosensory retinal layers continued as the ICM, whereas the outer layers could not be traced beyond a point. In some cases with apparently attached retina, subclinical retinal detachments were identified along the margin of the coloboma. In cases with retinal detachment, OCT allowed for identification of the precise site of communication between the sub-ICM space and subretinal space at the locus minoris resistentiae. The margin of the choroidal coloboma, in some cases, showed the appearance of a hump owing to inward turning of the retinochoroidal layers with thickening of the layers at the margin. In small colobomas, OCT revealed the ICM thickness comparable to normal retina but showed structural alterations. Fundus lesions that were clinically labeled forme fruste of choroidal coloboma seemed to have normal retinal thickness and layering on OCT. In 1 patient, a temporal optic pit was associated with the forme fruste choroidal coloboma in 1 eye; the fellow eye had a typical choroidal coloboma. CONCLUSIONS: Optical coherence tomographic evaluation of the margins of choroidal colobomas helps in understanding the transition from retina to ICM, detects subclinical retinal detachments, and aids in identifying the site of communication between the sub-ICM space and the subretinal space in eyes with retinal detachment.

Adolescent↗
PubMed2002

Congenital upper eyelid coloboma and cryptophthalmos.

PURPOSE: To discuss the relation between congenital upper eyelid coloboma and cryptophthalmos and to present a new grading for both conditions. METHODS: Observational case series study. Twenty-six children (age range, one day after birth to 15 years old) were included in the study: 19 with upper eyelid coloboma, 4 with classic cryptophthalmos, and 3 with both eyelid coloboma and cryptophthalmos. RESULTS: Of the 19 cases of upper eyelid coloboma, 5 occurred in isolation, 11 were associated with facial deformities, and 3 were part of a first arch syndrome (according to the Mustardé classification). All cases of classic cryptophthalmos were sporadic and nonsyndromic. All patients with coloboma with facial deformities, cryptophthalmos, and both eyelid coloboma and cryptophthalmos had similar associated facial abnormalities. CONCLUSION: Upper eyelid colobomas with facial deformities and cryptophthalmos can be considered as one anomaly. A new grading for this anomaly has been suggested. Grade 1: Coloboma without cryptophthalmos. Grade 2: Coloboma with abortive cryptophthalmos. Grade 3: Coloboma with complete cryptophthalmos. Grade 4: Classic cryptophthalmos (absence of all eyelid structures and the eye is completely covered with skin). Grade 5: Severe cryptophthalmos (with severe deformity of the nose and ectropion of the upper lip).

Adolescent↗
PubMed1995

Pattern of retinal breaks and retinal detachments in eyes with choroidal coloboma.

PURPOSE: To describe the type of breaks that occur in the diaphanous tissue within the coloboma of the choroid and the types of retinal detachment that are associated with these breaks. METHODS: This is a retrospective study of 36 eyes of 36 patients with retinal detachments that extended into the choroidal coloboma. Preoperative findings were documented using detailed fundus drawings and color photographs. Intraoperative identification of retinal breaks was possible using high magnification of the operating microscope. RESULTS: Based on the identifiable breaks inside the coloboma and the extent of retinal detachment, these patients were divided into five subgroups. Three distinct types of breaks were identified within the coloboma: (1) breaks at the edge of the detachment inside the coloboma; (2) oval atrophic breaks; and (3) breaks in anatomic macula that was involved in the coloboma. Multiple breaks were common. CONCLUSIONS: Retinal detachments that extend into the colobomatous area always are associated with breaks in the diaphanous tissue. Intraoperative identification of these breaks is relatively easy. Commonly, the breaks are seen at the edge of the retinal detachment inside the coloboma or as oval breaks within the detached diaphanous tissue. Macula, if involved in the coloboma, occasionally can harbor a retinal break.

Adolescent↗
PubMedDate not supplied

Predicting visual acuity in children with colobomas involving the optic nerve.

BACKGROUND: This study evaluates the relationship to visual acuity of four ophthalmoscopic features of colobomas involving the optic nerve. The goal was to identify those features that could predict potential visual acuity of children with these colobomas. METHODS: Fundus photographs of 23 eyes with colobomas involving the optic nerve met the entry criteria and were evaluated by two masked observers. The following features were evaluated: coloboma size, optic nerve color, foveal development, and subfoveal retinal pigment epithelial changes. Simple linear regression was used to identify the feature that most closely correlated with visual acuity. Refractive status was assessed by cycloplegic refraction. RESULTS: The only component that correlated with the development of good visual acuity was the degree of foveal involvement by the optic nerve coloboma (P = .002, R = 0.8). Significant refractive error and anisometropia were common in patients with colobomas involving the optic nerve. CONCLUSION: Central visual acuity in children born with colobomas involving the optic nerve correlates with the development of normal foveal anatomy, regardless of the size of the coloboma, the color of the optic nerve, or the presence of subfoveal pigmentary changes. Because refractive error is common, these children should receive an accurate refraction and amblyopia treatment.

Child, Preschool↗
PubMed2000

A new syndrome of optic nerve colobomas and renal abnormalities associated with arthrogryposis multiplex.

Renal-coloboma syndrome is a developmental disorder involving optic nerve colobomas and renal hypoplasia/insufficiency, which exhibits autosomal dominant inheritance and a highly variable phenotype (OMIM:120330). Mutation in the PAX2 gene was found to result in the renal-coloboma phenotype. We report on an Arab family with autosomal dominant inheritance of a syndrome characterized by a variable combination of optic nerve colobomas, renal abnormalities, vesicoureteral reflux, lax joints and arthrogryposis multiplex. Apart from the arthrogryposis multiplex which has not been described in the renal-coloboma syndrome, the features of the syndrome in this family are very similar to the renal-coloboma syndrome. However sequencing of all 12 axons of PAX2 gene revealed no mutation in this family. The disorder in this family is likely to represent a new syndrome with features overlapping with the renal-coloboma syndrome.

Abnormalities, Multiple↗
PubMed2006

Uveal coloboma: clinical and basic science update.

PURPOSE OF REVIEW: To integrate knowledge on the embryologic and molecular basis of optic fissure closure with clinical observations in patients with uveal coloboma. RECENT FINDINGS: Closure of the optic fissure has been well characterized and many genetic alterations have been associated with coloboma; however, molecular mechanisms leading to coloboma remain largely unknown. In the past decade, we have gained better understanding of genes critical to eye development; however, mutations in these genes have been found in few individuals with coloboma. CHD7 mutations have been identified in patients with CHARGE syndrome (coloboma, heart defects, choanal atresia, retarded growth, genital anomalies, and ear anomalies or deafness). Animal models are bringing us closer to a molecular understanding of optic fissure closure. SUMMARY: Optic fissure closure requires precise orchestration in timing and apposition of two poles of the optic cup. The relative roles of genetics and environment on this process remain elusive. While most cases of coloboma are sporadic, autosomal dominant, autosomal recessive, and X-linked inheritance patterns have been described. Genetically, colobomata demonstrate pleiotropy, heterogeneity, variable expressivity, and reduced penetrance. Coloboma is a complex disorder with a variable prognosis and requires regular examination to optimize visual acuity and to monitor for potential complications.

Blindness↗
PubMedDate not supplied

Ocular and systemic findings associated with optic disc colobomas.

PURPOSE: To determine the ocular and systemic anomalies associated with optic disc colobomas. PATIENTS AND METHODS: The records of patients with a diagnosis of isolated optic disc coloboma and chorioretinal coloboma with optic disc involvement were retrospectively reviewed. RESULTS: Fifteen patients were included in the study. Of the 30 eyes, the optic disc and choroid were involved in 18, an isolated disc coloboma was present in 5, a normal optic disc was present in 4, and the optic disc could not be identified because of extreme microphthalmia in 1. Of the optic discs outside the fundus colobomas, 1 had an abnormal shape and 1 had optic atrophy and hypoplasia. Eight patients had bilateral but asymmetric involvement of the optic nerve with the coloboma. Fourteen eyes of 9 patients were microphthalmic. Nine eyes of 6 patients had microcornea. One patient had a nonrhegmatogenous retinal detachment at the time of diagnosis. One eye had a retrobulbar cyst with microphthalmia. Eight (53%) of the patients had sensory strabismus. Two patients had unilateral cortical lens opacities. Associated systemic findings were present in 6 (40%) of the 15 patients. CONCLUSIONS: Optic disc colobomas have a wide variety of presentations. Poor visual acuity was observed mostly in eyes with macular involvement and microphthalmia.

Adolescent↗
PubMed1998

[The clinical features of retinal detachment with congenital choroidal coloboma].

OBJECTIVE: To approach the clinical features of retinal detachment with congenital choroidal coloboma and seek better surgical methods to improve the effect of treatment. METHODS: Vitreoretinal surgery was performed on eight patients of retinal detachment with choroidal coloboma. During surgery by using an operating microscope with high magnification and endoillumination, we searched for retinal break(s) located in the colobomatous area, looked into the condition of posterior hyaloid area, status of coloboma, treatment was given accordingly, and finally silicone oil tamponade was performed. RESULTS: Retina was reattached anatomically after operation in all cases, and their visual acuities improved. CONCLUSIONS: The type of retinal detachment is caused by the retinal break inside the coloboma. The breaks located at the edge of the detachment within the coloboma, ectatic sclera at the colobomatous region, without posterior vitreous detachment are the features of the retinal detachment with congenital choroidal coloboma. Complete vitrectomy with method to create chorioretinal adhesion around the coloboma and silicone oil tamponade provide an effective treatment for this complicated type of retinal detachment.

Adolescent↗