SEARCH · Search PubMed
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.
A 12 year old girl with the Poland syndrome and the 'morning glory' syndrome is described. The patient presented with absence of the left pectoralis major muscle, hypoplasia of the left arm, symbrachydactyly, and ipsilateral coloboma of the optic disc. This is the first report of the association of these two congenital anomalies.
To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome.
Three children have been reported with a combination of iris coloboma, ptosis, hypertelorism, and growth and mental retardation with possible autosomal recessive inheritance. We report a single case whose clinical features encompass this syndrome and Noonan syndrome, and discuss the possible interpretations of this complex phenotype.
A new classification of microphthalmos and coloboma is proposed to bring order to the complexity of clinical and aetiological heterogeneity of these conditions. A phenotypic classification is presented which may help the clinician to give a systematic description of the anomalies. The phenotype does not predict the aetiology but a systematic description of ocular and systemic anomalies improves syndrome identification. There are two major classes, total and partial microphthalmos, and a subclassification which follows the embryology of the anomalies. The aetiological classification consists of three classes: (1) genetic (monogenic and chromosomal), (2) prenatally acquired (teratological agents and intrauterine deformations), and (3) associations. Genetic disorders give rise to malformations; prenatally acquired anomalies are disruptions or deformations. The aetiological classification can be applied to other congenital birth defects and improves counselling of families. Recurrence risks vary considerably between the classes.
We describe a 5 year old boy with a de novo t(10;13) translocation and optic nerve coloboma-renal disease (ONCR). On the basis of GTG banding analysis of prometaphase chromosomes, the patient's karyotype was interpreted as either 46,XY,t(10;13)(q24.3;q12.3) or t(10;13) (q25.2;q14.1). Fluorescence in situ hybridisation (FISH) studies using a YAC clone containing the PAX2 gene and YAC clones adjoining FRA10B at 10q25.2 showed that the 10q breakpoint had occurred just within the PAX2 gene and was proximal to FRA10B. These FISH results suggest that the translocation causes a disruption of the PAX2 gene and leads to ONCR, in agreement with the recent reports of PAX2 mutations in two unrelated families with ONCR. Furthermore, we refined the regional mapping of the human PAX2 gene to the junction of bands 10q24.3 and 10q25.1.
An 11-year-old girl with poor visual acuity since birth was found to have nearly complete defects of the retinochoroidal tissue in the central areas of both fundi and almost normal peripheral retinas. Her parents were first cousins. At age 24, the patient reported night blindness. An examination showed geographic atrophy of the peripheral retina and stationary macular lesions in both eyes. Her condition appeared to be a rare case of bilateral macular coloboma associated with progressive peripheral retinal atrophy.
An infant with bilateral Peters' Anomaly, with corneal opacification in the right eye and an opacification with an axial defect in the left also had an associated hydrocephalus and cardiac anomalies that proved fatal; histopathology of the right eye showed retinal neovascularization in addition to findings consistent with a diagnosis of Peters' Anomaly; in the left eye, pathologic findings were suggestive of a corneal coloboma associated with aphakia.
PURPOSE: To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6. METHODS: The two exons of the SIX6 gene were amplified by PCR from patients' genomic DNA and directly sequenced to search for mutations. The PCR products of 75 patients were also analyzed by denaturing high-performance liquid chromatography (DHPLC). RESULTS: Six SIX6 polymorphisms were identified in the patient panel. Three of these polymorphisms change the encoded amino acid. However, all six polymorphisms were also identified in unaffected individuals. There was no statistically significant difference in genotypes between patients and control subjects. CONCLUSIONS: No evidence was found that SIX6 mutations underlie human congenital structural eye malformations.
Vax2 is a homeobox gene whose expression is confined to the ventral region of the prospective neural retina. Overexpression of this gene at early stages of development in Xenopus and in chicken embryos determines a ventralisation of the retina, thus suggesting its role in the molecular pathway that underlies eye development. We describe the generation and characterisation of a mouse with a targeted null mutation of the Vax2 gene. Vax2 homozygous mutant mice display incomplete closure of the optic fissure that leads to eye coloboma. This phenotype is not fully penetrant, suggesting that additional factors contribute to its generation. Vax2 inactivation determines dorsalisation of the expression of mid-late (Ephb2 and Efnb2) but not early (Pax2 and Tbx5) markers of dorsal-ventral polarity in the developing retina. Finally, Vax2 mutant mice exhibit abnormal projections of ventral retinal ganglion cells. In particular, we observed the almost complete absence of ipsilaterally projecting retinal ganglion cells axons in the optic chiasm and alteration of the retinocollicular projections. All these findings indicate that Vax2 is required for the proper closure of the optic fissure, for the establishment of a physiological asymmetry on the dorsal-ventral axis of the eye and for the formation of appropriate retinocollicular connections.
A survey of more than 500 reports on patients with autosomal chromosomal aberrations associated with microphthalmos and/or coloboma shows that these anomalies are unspecific. Anterior chamber anomalies were common as were abnormal ears, preauricular pits and tags, cleft lip-palate, micrognathia, urogenital malformations, congenital heart disease, atresia of the anus and minor malformations of the hands and feet. It is proposed that the chromosomal aberrations induce faulty development of neural crest cells and rostral neural plate derivatives.
Four members of three consecutive generations of a family had congenital anomalies of the optic disk: deep excavation of the optic disk containing a mass of white glial tissue at its center, anomalous retinal vessels emerging from the peripheral aspect of the disk, and elevated annulus of peripapillary pigmentary disturbance. These optic disk anomalies occurred bilaterally with some inter- and intra-individual variable expressivity. Five of the eight affected eyes had profound visual loss, but three eyes showed normal vision. Two cases developed unilateral nonrhegmatogenous retinal detachment. There were no other ocular or systemic malformations. This family illustrates an instance of autosomal dominantly inherited optic nerve coloboma.
A malformation association comprising bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion is reported in two sisters. The association seems to represent a new, probably autosomal recessive, oculo-reno-skeletal syndrome.
A 7-month-old boy presented with strabismus and proptosis of the left eye. He was found to have bilateral optic nerve colobomas associated with cysts arising from the optic nerve sheath and in communication with the subarachnoid space. The evaluation and management of this entity are discussed.
Posterior segment anomalies are rare features of the oculoauriculovertebral complex. Our patient had hemifacial microsomia with an optic nerve hypoplasia in one eye and an optic nerve coloboma in the other eye. The optic nerve hypoplasia was ipsilateral to the side with hemifacial microsomia and microtia.
A 5-year-old boy presented with ocular anomalies including microphthalmos, colobomas of the iris, choroid, and optic nerve head, and strabismus. Magnetic resonance imaging of the head showed multiple bilateral asymmetric high signal intensity foci in the subcortical and periventricular white matter. Genetic counseling disclosed a 47,XXY karyotype.
We report a congenital neurosensory retinal detachment associated with an optic nerve coloboma with subsequent spontaneous reattachment. This represents the earliest reported case of such a clinical situation. An observation period is recommended for infants with this clinical course to allow for the opportunity of spontaneous reattachment.
PURPOSE: To report a patient with congenital constrictive malformations of the internal carotid arteries and a morning glory disc anomaly (MGDA). METHODS: Descriptive case report. RESULTS: A 14-year-old girl underwent serial ophthalmologic examinations since the age of seven years because of blurred vision and floaters. A right optic disk anomaly was present that was most compatible with an MGDA accompanied by an inferior choroidal coloboma. Because of the association of such disc malformations with moyamoya disease, the patient underwent cerebral MRI and MRA that showed narrowing of both internal carotid arteries, a finding consistent with early-stage moyamoya disease. CONCLUSION: This case illustrates the importance of recognizing the association of MGDA with moyamoya disease, a treatable condition that may have devastating neurological consequences.
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.