Congenital orbito-palpebral cyst in a case of Fraser syndrome

A seven-year-old girl was referred to our clinic with absent eyelids and a mass which was gradually increasing in size from the right orbit. The child was diagnosed to have Fraser syndrome (cryptophthalmos, abnormal genitalia, mental deficiency, renal agenesis and abnormal ears). On examination, there was cryptophthalmos and a cystic swelling arising from the right orbit. The cyst was removed. On gross examination, there was a posterior eyeball with normal optic nerve. Placed in the anterior part of the eyeball was a cyst measuring about 2 cm in diameter filled with a yellow-coloured fluid. The cavity of the eyeball was communicating with the cyst. The cyst wall was lined by a single layer of epithelium. The posterior eyeball had well developed sclera, choroid, retina and optic nerve. There have been many reports of cryptophthalmos in Fraser syndrome. The most common eye deformity descibed with cryptophthalmos is microphthalmia or anophthalmia. To the author’s knowledge, there is one other report of cystic eyeball with cryptophthalmos in the literature. The cyst seems to be due to a surface ectodermal anomaly, rather than a neuro-ectodermal anomaly where there is failure of invagination of the primary optic cup during development. The cyst wall in those cases has inverted retinal elements. In our case, differentiation of retinal elements was present in the posterior eyeball. The abnormality seemed to lie in the derivatives of surface ectoderm, namely the eyelids and the anterior segment structures.     

Congenital cystic eye: recurrence after initial surgical removal

Congenital cystic eye arises from failure of invagination of the primary optic vesicle. The cyst lacks the usual intraocular structures and contains only abortive derivatives of the anterior and posterior portions of the primary optic vesicle. Because the cystic eye usually occupies a large portion of the orbit and distends the upper eyelid, surgical excision is often carried out. We report a case of congenital cystic eye in which an initial attempt at excision was followed in three months by recurrence of the cyst in the orbit. A second excision appears to have eliminated the cyst since no recurrence has become evident in the ensuing two years. The pathology of the cyst from both excision specimens suggests that the pigmented cells from the posterior portion of the cyst were not included in the first resection. Based on this experience, we conclude that every effort should be made to excise all of the congenital cystic eye when surgical removal is undertaken.     

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.     

Optic nerve coloboma with retinal degeneration associated with cystic microphthalmia of the other eye

In a seventy-five-year old man an optic nerve coloboma with generalised retinal degeneration associated with a cystic microphthalmia of the other eye is described. The MR imaging revealed the existence of a left microphthalmic eye with a lower lid cyst. From the other eye an optic nerve coloboma with a cystic ectasia of the coloboma area freely open to the vitreous cavity was apparent. The ERG recorded from this eye was extinguished.     

Congenital cystic eye

Background Congenital cystic eye is a rare ocular and orbital malformation describing an intraorbital cavity lined by neuroglial tissue. Clinical and histopathologic findings of a 3-year-old boy with a congenital cystic eye are presented.Methods A 4-year-old otherwise healthy boy with anophthalmia of the right eye was referred because of progressive volume enlargement of his congenital cystic lesion of the right orbit. Imaging techniques revealed a hyperintense cystic tumor with calcifications of the wall. There was no evidence of a globe, no communication to the intracranial space and a normal bony orbit. The mass was excised and a 20-mm silicone orbital implant inserted.Results Microscopic examination of the cyst revealed irregularly shaped layers of fibrovascular tissue lined by neuroglial tissue with calcified bodies and positive immunohistochemical staining for glial fibrillary acid protein (GFAP), neuron-specific enolase (NSE) and neurofilament protein (NF). No structures like cornea, lens, retinal pigmented epithelium or rosettes were identified.Conclusions Congenital cystic eye is a primary developmental abnormality of the globe caused by an invaginational arrest of the primary optic vesicle between the 2-mm and 7-mm stages of fetal development. The luminal neuroglial tissue contains dystrophic calcified bodies and degenerated primitive nerve fibers. The enlargement of the cyst may be due to fluid produced by glial tissue. The differential diagnoses for cystic anomalies without epithelial lining include microphthalmia with cyst, microphthalmia with cystic teratoma, ectopic brain tissue and meningoencephalocele.     

眼球壁先天异常声像图表现

目的：探讨眼球壁先天异常声像学表现及其诊断价值。方法：回顾性分析78例（126眼）眼球壁先天异常声像学表现。结果：先天性脉络膜缺损声像图表现为自视盘上缘或下缘向下的局限性球壁向后膨突；膨突后缘陡峭、前缘平滑，与极周边球壁无明显界限。先天性视盘缺损和牵牛花综合征声像图上视盘处球壁弧形光带中断，该区眶内梯形低回声区，视神经回声与梯形区底部相连，二者间为强回声带状物并伴彗星征。先天性小眼球合并眼眶囊肿表现为眼球各径线缩短，眼眶内见大的无回声液性暗区，透声良好，可压缩性明显。结论：声像学检查可为眼球壁先天异常的诊断提供依据。     

Congenital cystic eye with multiple dermal appendages: a case report

Background

A partial or complete failure in the involution of the primary optic vesicle resulting in the formation of a cyst is an extremely rare anomaly known as congenital cystic eye. The primary optic vesicle is formed but instead of the anterior part of the vesicle involuting to lie in apposition with the posterior part, a cyst persists at birth and replaces the eye.

Case Presentation

We report a case of congenital cystic eye associated with multiple dermal appendages in a 1-day-old female child. This condition presented at birth as a large orbital mass in the left orbit that bulged forwards and stretched the eyelids. No globe or any other ocular structures were identified in the orbit. Multiple dermal appendages were present in the adjacent part of the face below the left orbit and on the upper part of the neck.

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Figure 3 Clinical photograph of the cyst after surgical excision.

Conclusions

Congenital cystic eye is an extremely rare condition and with only 28 previous cases reported in the literature. We present the second case of congenital cystic eye with multiple dermal appendages of the face and neck.

     

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).     

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.     

A primary intraocular hydatid cyst.

Ultrasonography and computerized tomography (CT) of the painful and blind right eye of a 13-year-old girl showed a cystic mass almost filling the vitreous cavity and narrowing the anterior chamber. The histopathologic diagnosis of the enucleated eye was an echinococcus cyst. Abdominal ultrasonography, brain CT and chest X-rays gave no abnormal findings when first examined, nor during the follow-up 18 months after surgery. Indirect hemagglutination test was negative at the last control. The case was accepted as a primary hydatid cyst (echinococcosis) of the eyeball.     

Fraser syndrome. A case report

Fraser syndrome is a rare autosomal recessive disorder; the most consistent features are cryptophthalmos, syndactyly of fingers and toes, laryngeal stenosis, and urogenital abnormalities. We report a newborn case at day 1 of life who had multiple abnormalities, born from a consanguineous marriage. Clinically, the newborn had an ankyloblepharon on the left side, a cryptophthalmos on the right side, a syndactyly, anorectal abnormalities with ambiguous genitalia, laryngeal stenosis, and ear malformations. TDM of the cranium and orbits and the transfontanel ultrasound were normal. The abdominal ultrasound showed renal abnormalities. Right eye surgery showed a reduced cornea to an opaque thin plate clinging to the iris without an anterior chamber and a nonindividualized eyeball. The authors discuss the morphological abnormalities, the clinical and paraclinical aspects of this syndrome, its multispecialized clinical management, and the importance of prenatal diagnosis.     

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.     

Posterior staphyloma in the normal lenght eyeball--a case report

PURPOSE: The aim of the study is to present a case of posterior staphyloma in the eyeball of the normal length. METHODS AND RESULTS: A 17-year-old boy underwent full ophthalmologic examination due to impaired vision in the right eye (R.E.) lasting for one month. The visual acuity of R.E. and L.E. was found to be 0.8 and 1.0, respectively; near visual acuity for both eyes--0.5, intraocular pressure in both eyes--16 mmHg. The anterior part of both eyes was normal. The R.E. ophthalmoscopy revealed the presence of posterior staphyloma near the temporal-upper optic disc margin accompanied by serous retinal detachment above the macula. The L.E. ophthalmoscopy--normal. The eyeball length 23 mm and posterior staphyloma depth 2.4 mm. Refraction test--normal without any vision defect. Additionally fluorescein angiography, US B and OCT confirmed the presence of posterior staphyloma of the right eye. During the 3-month follow up the retinal detachment markedly decreased. CONCLUSIONS: The case report shown that posterior staphyloma may develop in the eyeball of normal length although its incidence is rare. New diagnostic methods, especially OCT, are very helpful in the clinical picture evaluation.     

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.     

Avulsion of the optic nerve: two case studies

Avulsion of the optic nerve is a rare and serious injury. The authors report two cases of optic nerve avulsion. The first one concerns a 5-year-old boy who presented ocular trauma after falling on the handlebars of a bicycle. His visual acuity was light perception in the right eye, and his right pupil was unresponsive to light. The anterior segment was normal. The ophthalmoscopic examination showed a total separation of the optic nerve head from the sclera with peripapillary hemorrhage. The second case concerns a 30-year-old man who was hit in the right eye with a stick. On admission, he had no light perception in the right eye, a right afferent pupil defect, a small laceration of the right lower eye lid and no abnormalities on the anterior segment. The fundus examination showed a mild vitreous hemorrhage. Ocular ultrasonography showed vitreous hemorrhage coming directly from the optic nerve head in a mushroom pattern. A CT scan of the orbit revealed a thickened optic nerve. Color Doppler ultrasonography documented slowing of blood flow in the central retinal artery. The two patients received 1 mg/kg/day of prednisone for 2 weeks. No improvement was noted. Optic nerve avulsion is often caused by sudden and forceful rotation of the eye with tearing of the optic nerve as it exits the globe. The nerve can be partially or totally avulsed. The prognosis is usually poor.     

Frontoethmoidal mucocele with ocular involvement

CASE REPORT: We report a case of a large mucocele occurring in a 64-year-old male. The patient presented with severe proptosis and long standing complete visual loss of the left eye. Computer tomography showed a large cystic mass arising from the left fronto-ethmoidal sinus that invaded the orbit and the anterior cranial fossa. Additional ophthalmologic findings were retinal hemorrhages, optic disc swelling, chorio-retinal folds and a complete afferent pupillary defect of the left eye. Surgical management of the mucocele resolved the proptosis and retinal hemorrhages but the visual loss and the chorio-retinal folds persisted. DISCUSSION: Mucoceles of the periorbital sinus may cause chorio-retinal alterations, optic neuropathy and permanent vision loss.     

The morphometric analysis of the central retinal artery

In this study, we aimed to investigate some features of the central retinal artery (CRA), which supplies the internal aspect of the retina. The CRA is the main vessel supplying blood to the retina. The origin, course and penetration point of the optic nerve by the CRA were studied in 30 human orbits. We compared the right sides to the left sides on the basis of gender in order to statistically analyse the relation between them. The CRA arose directly from the ophthalmic artery in 28 specimens. In two specimens, however, it arose in common with the medial posterior ciliary artery. When we observed the penetration point (site) of the CRA into the optic nerve, in 28 of 30 (93.3%) cases, the artery entered the nerve from the lower medial aspect and in two (6.7%) cases from the upper lateral aspect. The CRA penetrated the optic nerve between 6.4 and 15.2 mm behind the eyeball and reached the eyeball through the centre of the optic nerve. Because of the small diameter of the artery, it has a high risk of getting damaged during a surgical approach to the orbit. Therefore the anatomical relationships of this artery must be well known.     

Successful use of mitomycin C to prevent recurrence of the cystic component of an optic nerve sheath meningioma

A 28-year-old woman presented with 4 months of episodic right-eye vision loss and proptosis. Imaging demonstrated a cystic retrobulbar lesion. Lateral orbitotomy with drainage and biopsy revealed a cystic optic nerve sheath meningioma. The cyst recurred despite radiation therapy followed by craniotomy with partial resection of the meningioma. In an effort to preserve vision, an anterior orbitotomy for cyst drainage with topical mitomycin C was performed. Since this procedure, the cyst and symptoms have remained stable for 19 months. We report a case of cystic optic nerve sheath meningioma and the successful treatment of cyst recurrence with mitomycin C.     

Symptom Based Diagnosis of Infant under One Year in Outpatient Clinic

Purpose

We investigated chief complaints and ocular disorders in infants under one year of age and analyzed the association between complaints and disorders.

Methods

The medical records of 815 infants were reviewed. Chief complaints were grouped into the following 11 categories: eyelid drooping, epiphora (tearing), ocular discharge, lid swelling, eyelashes touching the eyeball, abnormalities of the anterior segment, abnormal eyeball movement (e.g., squint or nystagmus), red eye, trauma, poor eye contact, and miscellaneous. We performed ophthalmologic examinations at the doctors'' discretion and analyzed the relationship between chief complaint and final diagnosis.

Results

Mean age of visiting the outpatient clinic was 6.09 ± 3.07 months. The most common complaint was ocular discharge, followed by abnormal eyeball movement, epiphora, and eye redness. Among infants with ocular discharge, most were attributed to congenital nasolacrimal duct obstruction (155 infants) and conjunctivitis (75 infants). A total of 160 guardians complained of abnormal eyeball movement and 86 of 160 infants (51.9%) suffered from pseudoesotropia. Additionally, exodeviation and esodeviation was found in 17.9% and 16.4% of infants, respectively. Eight guardian complained of poor eye contact in their infants and these infants were diagnosed with retinal disorders (3), congenital optic nerve disorders (2), cataract (1), glaucoma (1), and high hyperopia (1).

Conclusions

The most common ocular symptoms in infants under one year of age included ocular discharge, epiphora, and eye redness. However, infants with poor eye contact or suspected abnormal eye movement should undergo a full ophthalmologic examination.