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This is a brief survey of more than 100 syndromes in which microphthalmos and/or coloboma appear. It is suggested that the disorders be assessed systematically by consecutive discussions of their aetiology, morphology and embryology.
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In a survey of 26,512 children under 12 years of age, 2 cases (0.075%) were found to have congenital intraocular coloboma. Among 193 cases of the disease from 169 families reported by 50 hospitals of 21 provinces and cities, the disease affected boys more than girls. Bilateral colobomas of the uveal tract constituted majority of the cases, and the unilateral patients showed no predilection for either eye. The colobomas mostly occurred in the lower part of the eye, involving one or more tissues, depending on the shape, scope and location of the coloboma and whether other ocular deformities existed. Colobomas of the uvea, optic nerve and macula lutea were mostly sporadic. Earlier disruptions in the embryonal cleft resulted in more serious colobomas and complicating ocular deformities.
Several presentation and associated clinical problems can be seen with retinochoroidal colobomas. We review five cases of retinochoroidal coloboma with no specific clinical problems and present five cases with clinical visual impairment. The five symptomatic cases include: one with extensive bilateral involvement; one with associated rhegmatogenous detachment and peripheral tears; one with retinal detachment and apparent holes in the intercalary membrane; one with subretinal neovascularization; and a case with diabetic retinopathy, optic nerve coloboma, and peripheral retinochoroidal coloboma in one eye and a total coloboma in the other eye.
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.
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.
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.
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.
The author reports on two siblings. The elder, a 28-year-old woman has bilateral macular coloboma and a high degree of myopia. Her 27-year-old brother's left eye also has a macular coloboma, while his right eye has diffuse chorioretinal dysplasia with extensive nevoid choroidal pigmentation but no macular coloboma. His right eye is hyperopic, the left myopic. The eyes of the parents and their other, younger daughter are normal in all respects. Congenital syphilis and toxoplasmosis have been excluded as causes of the fundus deterioration of the first two offsprings. The macular colobomas of the two siblings (circumscribed macular dysplasia) and the alternating diffuse chorioretinal dysplasia must be classified as genetically conditioned maldevelopment of the optic cup ectoderm.
We report the results of vitreous surgery in seven eyes with retinal detachments caused by retinal breaks at the margin of, or within, a choroidal coloboma. All seven eyes (100%) were reattached; visual acuities in five (71%) of the seven eyes improved from preoperative levels. Vitrectomy was combined with air-fluid exchange and endodrainage through preexisting retinal breaks or planned retinotomies in all but one of the cases. Part or all of the rim of the choroidal coloboma in six eyes underwent endophotocoagulation. The two eyes that did not experience postoperative visual improvement underwent intraoperative endolaser treatment 360 degrees around the optic nerve. If peripapillary endophotocoagulation is performed, especially through the papillomacular bundle, nerve fiber damage may occur and prevent visual recovery, despite retinal reattachment. For eyes with retinal detachment associated with choroidal colobomas involving the optic nerve, postoperative laser treatment through the papillomacular bundle may be preferable.
Optic nerve colobomas can occur as sporadic abnormalities, may be inherited as an autosomal dominant defect, occur as part of syndromes, and are rarely associated with cardiac malformations and midline encephaloceles. Karcher [1979] described a father and son with the "morning glory" optic disc anomaly and renal disease as a new association. We report on two brothers with optic nerve colobomas associated with renal disease. The ophthalmologic findings and renal histopathology are presented. This second familial occurrence suggests that the association of optic nerve coloboma and renal disease is a newly recognized syndrome.
Bilateral true colobomas with retrobulbar cysts located over the optic nerves are described in an 8-year-old Quarterhorse mare with a history of progressive blindness. Colobomas result from the failure of an embryonic fissure to close and retrobulbar cysts result from eversion of the neuroectoderm through the colobomas. It could not be determined whether the small optic nerves and the scars, rosettes and disorganization of the cell layers in the retina were the result of concurrent dysplasia or were secondary to degeneration.
We used vitreous surgery to treat seven patients (eight eyes) with complicated retinal detachments associated with choroidal colobomas. All eyes had large choroidal colobomas and no evidence of peripheral retinal breaks. Small, atrophic breaks were detected in five of the eyes and were located in the base of the coloboma in four of the five eyes. Adjunctive surgical techniques were necessary and included cyanoacrylate retinopexy in four eyes, silicone oil tamponade in five eyes, and retinectomy in two eyes. Retinal reattachment was ultimately attained in seven of the eight eyes. The number of surgical procedures ranged from one to five, with an average of three. Postoperative visual acuity of the eyes that underwent anatomically successful procedures ranged from 20/100 to light perception. Proliferative vitreoretinopathy was the most frequent cause of redetachment, occurring in six of the eight eyes.
Seven eyes from seven patients with retinal detachment and choroidal coloboma (with or without optic disc involvement) were treated. The retinal break was always inside the colobomatous area, except in the cases with evidence of peripheral retinal breaks. In order to produce reattachment of the retina, vitrectomy procedures with removal of posterior hyaloid were used. Drainage of subretinal fluid was performed through the break in the area of the coloboma, with simultaneous fluid-air exchange. Previously undetected retinal breaks were identified by inspecting for the presence of schlieren in the colobomatous area during fluid-air exchange. A peripheral scleral buckle was then applied. Argon laser endophotocoagulation was performed, but when the coloboma involved the optic disc, red krypton endophotocoagulation was used. Retinal reattachment was achieved in all cases.
Twenty-two patients with congenital upper lid colobomas were assessed. Strabismus occurred in 13 cases and was associated with bands of fibrous tissue or adhesions, high refractive errors and opacities in the ocular media. A traction test is strongly recommended early in all children with congenital upper lid colobomas. A lateral cantholysis and direct closure was the commonest type of surgery, but unless the coloboma closed easily a lower lid rotation flap gave the best results.
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.