Intraocular and extraocular colobomatous cysts in adults

A 29-year-old woman had a colobomatous multiloculated cystic left eyeball. None of the normal structures of the globe were discernable by clinical examination. The cyst had been present since birth and had not grown in size since early childhood. Another patient, a man of 73, had an intraocular colobomatous cyst occupying the temporal half of the large choroidal bridge coloboma in his left eye. This cyst was partially filled with shimmering crystalline fluid. This patient had bilateral open-angle glaucoma which had caused advanced damage to the optic nerve in the structurally normal right eye. It is interesting that glaucoma did not affect the left eye with choroidal coloboma and intraocular colobomatous cyst, which had normal vision. The author thinks that ectatic sclera in the area of coloboma might have protected the eye from elevated intraocular pressure.     

Ependymal Tissue in Microphthalmia with Cyst

Purpose: To report the nature of the contents of a cyst associated with microphthalmia and optic nerve coloboma in a male infant. Design: Clinicopathologic report. Case report: A male infant in good general health presented with a massively swollen, protruded left lower eyelid since birth. The globe was not identifiable. MRI disclosed a microphthalmic globe in the upper nasal orbit and an orbital cystic mass consisting of various compartments. Examination of the fellow eye showed a large optic nerve coloboma. As the protrusion of the left lower eyelid was progressive, aspiration of the cyst was performed twice. Finally, the cyst was removed surgically due to repeated filling. Results: Examination of the aspirated fluid showed resemblance to cerebrospinal fluid (CSF). During surgery, the cyst was not found to communicate with the cerebrospinal fluid system. However, tissue resembling choroidal plexus lined the wall of the cyst that was adherent to the optic nerve. Histological evaluation of the tissue revealed ependymal cells. Discussion: The presence of CSF in microphthalmic cysts does not necessarily imply a connection to the CNS, but may be due to local CSF production by ectopic ependymal cells.     

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A 48-year-old diabetic woman was referred to us for retinopathy screening. Visual acuity was 20/20 with a refraction of –8.00 in each eye. Fundoscopy of the left eye revealed an inferotemporal optic pit and inferior typical retinochoroidal coloboma independent of the disc. The right optic disc was normal. There was a small choroidal coloboma just inferior to optic nerve head. Systemic and neurologic examinations were normal. Our case is a rare example of optic pit and independent coexistent choroidal coloboma. This observation supports the theory that optic disc pits may be the result of a faulty closure of the embryonic fissure.     

Ependymal tissue in microphthalmia with cyst

PURPOSE: To report the nature of the contents of a cyst associated with microphthalmia and optic nerve coloboma in a male infant. DESIGN: Clinicopathologic report. CASE REPORT: A male infant in good general health presented with a massively swollen, protruded left lower eyelid since birth. The globe was not identifiable. MRI disclosed a microphthalmic globe in the upper nasal orbit and an orbital cystic mass consisting of various compartments. Examination of the fellow eye showed a large optic nerve coloboma. As the protrusion of the left lower eyelid was progressive, aspiration of the cyst was performed twice. Finally, the cyst was removed surgically due to repeated filling. RESULTS: Examination of the aspirated fluid showed resemblance to cerebrospinal fluid (CSF). During surgery, the cyst was not found to communicate with the cerebrospinal fluid system. However, tissue resembling choroidal plexus lined the wall of the cyst that was adherent to the optic nerve. Histological evaluation of the tissue revealed ependymal cells. DISCUSSION: The presence of CSF in microphthalmic cysts does not necessarily imply a connection to the CNS, but may be due to local CSF production by ectopic ependymal cells.     

Retinochoroidal coloboma: varieties of clinical presentations

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.     

CHARGE association in a 19-year-old woman

A 19-year-old woman with patent ductus arteriosus, retarded growth, hearing loss, hypoplasia of the uterus, amenorrhea, and normal karyotype was referred to the eye clinic. She had been initially suspected as having Turner syndrome. On examination, optic nerve head coloboma, choroidal coloboma, and microphthalmos were found in the left eye. The diagnosis of CHARGE association was made. Ophthalmologists should be aware of the possible systemic syndrome and its association with coloboma. The authors have stated that they do not have a significant financial interest or other relationship with any product manufacturer or provider of services discussed in this article.     

Histopathologic study of ocular changes in a syndrome of multiple congenital anomalies

We examined a 5-month-old boy who had an iris coloboma in the left eye, persistent hyaloid artery, macular hypoplasia, left aberrant nerve palsy, and bilateral blepharoptosis. He had microcephaly and bilateral corticospinal tract dysfunction. Additionally, he had brachycephaly, a high arched palate, hypospadias, a malformed left external ear, and bilateral finger contractures. Computed tomography showed agenesis of the corpus callosum. He died at age 5 months. On histologic examination the left eye showed an iris coloboma, ciliary epithelial differentiation to the retina, undifferentiated neuroepithelium beneath the equatorial retina, persistent hyaloid artery, and optic nerve coloboma and pit. These findings may result from failure of the fetal fissure of the optic cup to close, with redundant folds of neuroepithelium and focal aberrant differentiation. The constellation of developmental defects indicates that an insult occurred during the sixth week of gestation.     

Optic nerve cyst associated with optic disk pits

Purpose To report a case with two optic disk pits which were associated with an optic nerve cyst in the same eye.Methods Observational case report.Results A 47-year-old patient noted visual impairment in the right eye. On examination the best corrected visual acuity in the right eye was 20/80 and in the left eye was 20/20. Biomicroscopy revealed, in the right eye, a very pale optic disk with two optic disk pits without macular elevation. Magnetic resonance imaging (MRI) revealed a well circumscribed 6×6-mm² round cystic lesion within the right optic nerve sheath adjacent to the temporal aspect of the right optic nerve at its retrobulbar segment, which compressed and displaced the nerve.Conclusions In the case of an extremely pale optic disk with congenital pits and visual impairment without macular detachment, radiological examination is indicated in order to exclude the possibility of coexisting optic nerve anomalies.     

An unusual fundus finding in a patient with optic nerve pit syndrome

In a study of 12 patients with optic nerve pits, a female patient presented an unusual fundus finding in which there were many flat grey-white lesions in both eyes. These lesions covered a large area of the fundus and extended from the posterior pole to the periphery. There was an optic pit in the right eye and an inferior coloboma in the left eye. The visual acuities and the clinical findings remained unchanged over the follow-up period of 2 years. Fluorescein angiographic and electrophysiological examinations suggested that these lesions were probably located at or beneath the retinal pigment epithelium.     

Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome

PURPOSE: To report a 10-year-old girl with developmental anomalies of both optic disks, a chorioretinal coloboma, sphenopharyngeal meningoencephalocele, and moyamoya disease. METHODS: A full ophthalmologic examination, cranial magnetic resonance imaging and magnetic resonance angiography, and cerebral angiography were performed. RESULTS: The patient had a morning glory disk anomaly and microphthalmos of the right eye and optic nerve hypoplasia and retinochoroidal coloboma in the left eye. She had a midfacial cleft and an episode of seizures and a stroke. Magnetic resonance imaging showed a sphenopharyngeal meningoencephalocele. Magnetic resonance angiography and cerebral angiography demonstrated a pattern consistent with moyamoya disease. CONCLUSIONS: This patient had a distinct syndrome of optic disk, retinochoroidal, and carotid circulation anomalies with midline cranial defects. The recognition and treatment of the vascular abnormalities and cranial defects may prevent complications such as strokes that may occur during or after general anesthesia.     

Isolated coloboma of the optic nerve head: an echographic evaluation

The echographic profile of the optic nerve was studied in ten eyes with coloboma of the optic nerve head. Optic nerve dimensions measured with A-scan ultrasonography revealed an increase in the overall diameter of the nerve; B-scan echography was performed in six patients and showed excavation of the optic discs with a double-walled lining posteriorly. Additional B-scan features included widening of the anterior angle of the nerve and random perpendicular echoes in the anterior part of the nerve head. The similarities and differences in echographic pictures observed in coloboma of the optic disc and glaucomatous optic atrophy are described, and the genesis of these ultrasonographic features is discussed.     

Optic nerve pit

Optic nerve pits are an uncommon congenital anomaly of the optic nerve head. Pits are generally recognized to represent an atypical form of optic nerve coloboma. The appearance of optic nerve pits can be quite variable and may simulate other anomalies of the optic nerve head, such as glaucoma or optic nerve tumor. Visual loss is present in a significant number of cases. Arcuate scotomas and a serous macular detachment have been associated with pits of the optic nerve. The mechanism for development of the serous maculopathy is not well understood.     

Optic disc pit combining with an optic nerve cyst — A case report

Herein, we report a case presenting with the optic disc pit and optic nerve cyst coexistence. A 54-year-old female presented to our office with progressive blurred vision for up to 3 months in her left eye. Upon examination, the best corrected visual acuity in the right eye was 20/20 and in the left eye was 20/100. Fundoscopic examination revealed a black pit at the temporal margin of left optic disc without obvious macular edema. Findings were confirmed later with optical coherence tomography (OCT) examination. Further magnetic resonance imaging (MRI) disclosed a well defined 6 mm x 6mm cystic lesion located at temporal aspect of left retro-bulbar optic nerve within the optic nerve sheath. Compression of left optic nerve was prominent. Visual evoked potential (VEP) test verified dysfunction of left optic nerve. She kept following up for 6 months. Neither maculopathy nor retinal edema occurred during this period. The visual acuity maintained 20/100 in her left eye. The size and location of optic disc pit remained as well. To sum up, in a patient with visual impairment combing with optic disc pit, further imaging surveys should be considered to exclude the possible coexistence of other optic nerve abnormalities.     

Optic nerve manifestations of human congenital cytomegalovirus infection.

A Latin American male and a white female infant who had a cytomegalovirus infection on the first day of life had unilateral optic nerve hypoplasia. A white male infant who had cytomegalovirus isolated at 5 weeks of age had a unilateral partial coloboma of the optic nerve. A 4-month-old black infant with cytomegalovirus infection diagnosed at 2 days of age had a unilateral complete coloboma of the optic nerve associated with microphthalmia. Optic nerve involvement was an important manifestation of this disease.     

Bilateral microphthalmos with unilateral superior cyst in a child with autism and CHARGE syndrome

A case of autism with CHARGE syndrome with microphthalmos and a superior colobomatous cyst arising from the optic disc is reported. A 7-year-old boy presented with a gradually increasing mass, involving the superior orbit and upper eyelid of right eye of 3 years’ duration. Clinical examination revealed bilateral microphthalmos with typical iris coloboma, posterior synechiae, and cataractous lens. Imaging revealed bilateral optic disc colobomas with a superior cyst in the right orbit. Intraoperatively, a single cystic lesion was seen in the superior orbit arising from the optic disc region. Histopathology was suggestive of a colobomatous cyst, positive for glial tissue [glial fibrillary acidic protein (GFAP) positive] and neuroretinal elements (synaptophysin positive) on immunohistochemistry. Genetic analysis revealed a normal karyotype (46, XY).     

Optic Nerve Cysticercosis: Case Report and Review of Current Management

The authors present a case of optic nerve cysticercosis in a 32-year-old patient who presented with sudden blurring of vision in the left eye and a transient visual improvement on systemic steroids. The ocular findings were unremarkable other than a relative afferent pupillary defect (RAPD). An ultrasound of the orbit, CT and MRI scans revealed a cystic lesion in the orbital portion of the optic nerve close to the eyeball. A presumed diagnosis of optic nerve cysticercosis was made on the basis of imaging and a positive serum ELISA. The patient improved dramatically on a 4-week therapeutic trial of albendazole and oral steroids. The post-treatment ultrasound and CT scan showed an involution of the cyst with some residual thickening of the optic nerve.     

Optic nerve cysticercosis: case report and review of current management

The authors present a case of optic nerve cysticercosis in a 32-year-old patient who presented with sudden blurring of vision in the left eye and a transient visual improvement on systemic steroids. The ocular findings were unremarkable other than a relative afferent pupillary defect (RAPD). An ultrasound of the orbit, CT and MRI scans revealed a cystic lesion in the orbital portion of the optic nerve close to the eyeball. A presumed diagnosis of optic nerve cysticercosis was made on the basis of imaging and a positive serum ELISA. The patient improved dramatically on a 4-week therapeutic trial of albendazole and oral steroids. The post-treatment ultrasound and CT scan showed an involution of the cyst with some residual thickening of the optic nerve.     

The development of recurrent choroidal neovascularization in a patient with choroidal coloboma

We report a case of recurrent choroidal neovascularization (CNV) in an eye with chorioretinal coloboma. A 36-year-old woman presented complaining of decreased visual acuity (VA) in her left eye. Best corrected visual acuity (BCVA) was 20/200 and iris coloboma was observed. Funduscopy and fluorescein angiography (FA) showed CNV in the superior extrafoveal region with chorioretinal coloboma reaching just inferior to the optic disc. No other cause for CNV was observed except for the chorioretinal coloboma. BCVA improved to 20/30 after laser photocoagulation. She revisited our clinic for deteriorating VA (20/400) in the same eye 3 years after treatment. Funduscopy and FA demonstrated recurrent CNV with subfoveal hemorrhage. Photodynamic therapy (PDT) was followed by three consecutive intravitreal bevacizumab injections (IVB) for the subfoveally-located CNV. However, the CNV persisted with the appearance of a fresh subretinal hemorrhage. Additional PDT was combined with IVB on the same day 6 months after the initial PDT. The CNV regressed 3 months after treatment and has not recurred as of 8 months after the last treatment. The patient's BCVA improved to 20/60. This case suggests that PDT combined with IVB can be an alternative treatment for the management of recurrent CNV after laser photocoagulation in eyes with chorioretinal coloboma.     

Choroidal neovascular membrane associated with optic nerve coloboma in a patient with CHARGE association

PURPOSE: To report a patient with CHARGE association (coloboma, heart disease, choanal atresia, growth retardation, genital hypoplasia, and ear abnormalities) who developed a choroidal neovascular membrane in association with an optic nerve coloboma. DESIGN: Interventional/observational case report. METHOD: A 21-month-old boy with CHARGE association developed a grayish choroidal neovascular membrane associated with lipid exudation, subretinal fluid, and retinal hemorrhage at the temporal edge of his right optic nerve coloboma. RESULTS: The patient underwent transpupillary diode laser of the choroidal neovascular membrane. Five months later, it and the serous retinal detachment had resolved. CONCLUSIONS: Patients with CHARGE association may develop choroidal neovascular membrane with serous retinal detachments in association with optic nerve colobomas. These neovascular membranes may be treated successfully with transpupillary diode laser.