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Two cases of coloboma are recorded, both secondary to previously unreported unbalanced translocations. These cases underline the association of chromosomal abnormalities and coloboma, particularly when accompanied by systemic abnormalities. They also highlight the importance of a full systemic assessment of coloboma patients and adequate genetic counselling for both patients and their families.
AIMS: To report the detailed clinical findings in a three generation pedigree with autosomal dominant cataract, microcornea, and coloboma resulting from mutation of the lens development gene, MAF. METHODS: Five members of a three generation pedigree with progressive cataracts underwent detailed ophthalmic examination to characterise associated ocular phenotypic features. RESULTS: The cataracts present in all affected individuals were cortical, and/or nuclear, pulverulent opacities. Corneal diameters of 10-10.25 mm were present in two family members. Axial lengths were in the normal range. Bilateral iris coloboma in the 6 o'clock position was present in one patient. Uveal melanoma was present in one patient, with uveal naevi in this and one other patient. CONCLUSION: The bZIP transcription factor MAF is a key lens development gene that regulates the expression of the crystallins. Individuals with a mutation in MAF may have pulverulent cataract alone or cataract in association with microcornea or iris coloboma.
PURPOSE: To verify the functional and anatomical results of retinal detachments related to choroidal coloboma. METHODS: Seven eyes with retinal detachment secondary to retinal breaks at the margin of or within a choroidal coloboma were analysed retrospectively. RESULTS: Scleral buckling was performed in five of the seven eyes; two needed additional pars plana vitrectomy (PPV) with internal tamponade using silicone oil to reattach the retina. In two eyes PPV with internal tamponade using silicone oil or gas was used as a primary procedure. All seven eyes were reattached. Five eyes (71.4%) showed improvement or had visual acuity of 20/400 or better after surgery, but two remained unchanged. CONCLUSIONS: Retinal detachment secondary to choroidal coloboma can be treated successfully by scleral buckling or PPV with internal tamponade.
PURPOSE: To report a case of subretinal neovascularization associated with retinochoroidal coloboma. METHODS AND RESULTS: A 44-year-old female presented with metamorphopsia in her right eye for 4 weeks. Funduscopic examination revealed bilateral inferior retinochoroidal coloboma. Fluorescein angiography disclosed foci of subretinal neovascularization at the margin between the colobomatous defect and the normal-appearing retina. Five month later, multiple small areas of subretinal hemorrhages were noted. The hemorrhage was gradually absorbed. Six years after initial presentation, subretinal hemorrhage did not recur and her right VA was 0.2. CONCLUSIONS: Ophthalmologists should be aware of this rare but important complication of retinochoroidal coloboma.
We report the case of a 14-year-old girl with multiple findings characteristic of Noonan's syndrome, including short stature, mild mental retardation, facial, skeletal and renal abnormalities. In addition, ophthalmic examination revealed a keratoconus in the left eye and a right optic disc coloboma. To date, only two cases of Noonan's syndrome with keratoconus have been reported, and this is the second case of this syndrome with optic disc coloboma. To our knowledge, this is the first report of Noonan's syndrome associated with unilateral keratoconus and contralateral optic disc coloboma. In view of the large number of patients with Noonan's syndrome reported to date and the rarity of these ocular abnormalities, it is most likely that this association is fortuitous. Ocular findings reported in patients with Noonan's syndrome are reviewed.
An unusual case of bilateral lens coloboma and Alport-like glomerulonephritis is reported. In a 12-year-old boy and in several family members; Alport-like glomerulonephritis was diagnosed without deafness and without ocular signs of Alport syndrome. A bilateral lens coloboma however was observed in the propositus. To our knowledge this is the first reported case of lens coloboma with Alport-like glomerulonephritis.
Typical ocular colobomas and associated orbital cysts are relatively common malformations that result from a defect in the fusion of the fetal optic fissure. Three cases studied with computed tomography (CT) are reported, and the spectrum of ocular colobomas, their associated findings, and CT differential diagnosis are reviewed. This experience indicates that the location and extent of colobomas can be determined with high-resolution CT.
The authors report a girl with short stature, goniodysgenesis, bilateral iridochorio-retinal coloboma, associated with facial and acral anomalies, and borderline intelligence. Anterior chamber defect and face dysmorphism are in accordance with the diagnosis of Rieger syndrome. Some features are reminiscent of the CHARGE association. Coloboma, abnormal ears, grooved palate, elbow pronosupination and hand bones anomalies are related to the Abruzzo-Erikson syndrome. The authors postulate that their propositus may represent a new occurrence of the latter syndrome, and they propose to widen the actual definition of Abruzzo-Erikson syndrome to the association of goniodysgenesis, coloboma, abnormal ears and upper limb anomalies.
A one-month-old infant boy was examined early in life because his mother had bilateral retinoblastoma and his father had bilateral microphthalmia. The ophthalmologist found his right eye was normal size with a coloboma of the iris, choroid, and retina. The left eye was microphthalmic with a coloboma of the uveal tract and retina. A vascularized fluffy white mass in the posterior pole was diagnosed clinically as a retinoblastoma. The tumor regressed with radiation. When the patient was four years of age, a large tumor was found in the region of the pineal recess, causing hydrocephalus and seizures. A biopsy showed an undifferentiated malignant neuroepithelial neoplasm. The patient died within three months of diffuse central nervous system tumor. The unusual findings of a retinoblastoma in a microphthalmic eye with bilateral colobomas and a neuroepithelial neoplasm of the pineal gland are discussed.
Vitreous surgery using an internal tamponading agent and chorioretinal adhesion is commonly used to repair retinal detachment associated with choroidal coloboma. The detachment may, however, recur if fluid continues to leak through a retinal defect in the area of the coloboma, despite internal tamponade. We present a case in which a recurrent retinal detachment associated with coloboma following vitreous surgery with SF6 was successfully repaired in outpatient surgery using perfluoroperhydrophenanthrene (Vitreon) and endolaser photocoagulation.
INTRODUCTION: The choroidal coloboma is a congenital malformation that results from an anomaly of the embryonic fissure. This anomaly is frequently associated to numerous ocular and systemic anomalies, but rarely to familial adenomatous polyposis. CASE REPORT: We report a 12 years-old boy, who consulted for severe visual impairment of the right eye. The clinical examination revealed a coloboma of the iris and choroid and numerous lesions of congenital hypertrophy of the retinal pigmentary epithelium while exploration of the digestive tract revealed the presence of familial adenomatous polyposis. DISCUSSION: We discuss the physiopathological mechanisms of this rare case, associating on one hand a coloboma of iris and choroid and on the other hand a congenital hypertrophy of the retinal pigment epithelium and a familial adenomatous polyposis. To the best of our knowledge this association has never been described before. We also emphasize the importance of an ophthalmologic examination for screening familial adenomatous polyposis in a subject at risk.
A case of unilateral disc-shaped cataract with coloboma of the lens is reported. The patient, a 17-year-old girl, had best corrected visual acuity of 0.01 (+ 9 D) in the right eye and 1.2 in the left eye. Exotropia of 10 Hirschberg degrees was found in her right eye. The visual disturbance of that eye was thought to be due to amblyopia. The pupillary center of the lens was very thin and membranous, with no nucleus. A ring-like hypertrophic cataract was observed from the lens equator to the periphery of the pupillary area. A bow-shaped coloboma of the lens was found from 3 to 5 o'clock, where the Zinn's zonule was coarse. Some dozen bright white spots were dispersed temporally from the periphery of the macular ring. This combination of disc-shaped cataract with the coloboma of lens is the first such case reported.
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.
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.
Four eyes with rhegmatogenous retinal detachment and coloboma of the choroid were managed by conventional scleral buckling (one eye); scleral buckling combined with lensectomy, vitrectomy, and fluid-air exchange (two eyes); and vitrectomy, silicone oil injection without scleral buckling (one eye). Retinal break was seen within the coloboma in two eyes, at the periphery in one eye, and, both in the coloboma and periphery in one eye. At a follow-up of 15 months, the retina was found attached in all the patients. The success of these surgical procedures could be attributed to careful preoperative/intraoperative fundus examination and individualised surgical planning.
Three cases of ophthalmic malformations are discussed from the standpoint of the usefulness of ultrasound evaluation, however with respectful reference to the revised classification of microphthalmos and coloboma presented by Warburg 1993. The main findings were, (case 1): microphthalmos with iris coloboma, unilateral posterior orbital cyst, and mental retardation, karyotype normal, consanguineous parents, (case 2) trisomy 13 with extreme microphthalmos and cheilo-gnatho-palatoschisis, and (case 3) ringchromosome 14, posterior fundus colobomas, and malformation of the heart, with features corresponding to the CHARGE association.
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.
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.