Vismodegib and orbital excision for treating locally advanced basal cell carcinoma.

PURPOSE: Orbital invasion of periocular basal cell carcinoma (BCC) is a potentially life-threatening condition with high levels of ocular morbidity. Exenteration results in significant disfigurement and permanent loss of vision. We report our experience with a patient who presented with medial orbit invasion of a BCC following 2 previous microscopically adequate local excisions of medial canthal BCC, an adequate Moh's micrographic surgical excision of the tumor, and radiotherapy. The patient underwent an orbital excision where the tumor was found to have perineural involvement and extend beyond the posterior margin. Following the pathology results of this procedure, the patient opted to try vismodegib (Erivedge®) to delay exenteration for as long as possible. OBSERVATIONS: A course of vismodegib was taken by the patient with minor side effects (partial alopecia, mild dysgeusia and hyposmia, and minor muscle cramps). Subsequent imaging demonstrated no recurrence of the orbital tumor 29 months after orbital excision. CONCLUSION AND IMPORTANCE: We demonstrate the use of vismodegib with local orbital excision as an eye-saving alternative to exenteration for advanced orbital metastasis of BCC.

Orbital floor fracture with entrapment: Imaging and clinical correlations in 45 cases.

Orbital floor fractures (OFF) with entrapment require prompt clinical and radiographic recognition for timely surgical correction. Correct CT radiographic interpretation of entrapped fractures can be subtle and thus missed. We reviewed the clinical, radiographic and intraoperative findings of 45 cases of entrapped OFF to correlate pre- and intraoperative findings with radiography. Retrospective review and statistical analysis of 45 patients with OFF using the chi squared and Kruskal-Wallis tests. Main outcome measures included patient demographics, clinical features, radiologic interpretation, intraoperative findings, and treatment outcomes. Twenty-one cases (47%) had radiologic evaluations of orbital CT scans that included commentary on possible entrapment. Intraoperatively, 16 (76%) of these patients had the inferior rectus muscle incarcerated in the fracture, while 5 (24%) patients had incarceration of the orbital fat. Possibility of entrapment was not commented on in the radiology reports of the remaining 24 (53%) cases. Intraoperatively, 13 (54%) of these patients had the inferior rectus muscle incarcerated in the fracture, while 11 (46%) patients had incarceration of the orbital fat. It is vital to assess the possibility of entrapment, especially in young patients, in the setting of OFF as a delay in diagnosis may lead to persistent diplopia, disfigurement, or bradycardia. Most radiology reports did not mention the possibility of entrapment in this cohort. A key concept is that entrapment occurs when any orbital tissue (muscle or fat) is trapped in the fracture site.

Peribulbar anesthesia causing bilateral orbital hemorrhage.

We report a case of bilateral orbital hemorrhage as a complication of peribulbar anesthesia in a 78 year old man. Initially, unilateral orbital hemorrhage occurred but quickly spread to the contralateral side. Neuroophthalmological assessment revealed a proptosed tense globe with normal retinovascular findings. Visual acuity was adversely affected and this was conservatively managed with no lasting ophthalmic sequela. This patient's case was reported as it illustrates an unusual complication of bilateral spread of orbital hemorrhage secondary to peribulbar anesthesia. It highlights how early ophthalmic assessment can ensure a good visual outcome in the setting of appropriate ophthalmic monitoring. The mechanisms of orbital hemorrhage spread and appropriate management options are discussed.

Extranodal Rosai-Dorfman Disease of the Orbit: Clinical Features of 8 Cases.

PURPOSE: To report on the presentation, radiography, histology, and treatment of 8 cases of extranodal Rosai-Dorfman disease involving the orbit. METHODS: Multicenter retrospective case series. RESULTS: Five males and 3 females had a median age of 10 years (range 2-78 years). Presenting signs and symptoms included proptosis, periorbital pain, palpable mass, blepharoptosis, decreased vision, diplopia, impaired extraocular motility, and afferent pupillary defect. Four patients had bilateral orbital disease, while 4 had unilateral disease. Six cases were extraconal, 1 was intraconal, and 1 was both intra- and extra-conal. Four cases had only extranodal disease without lymphadenopathy (3 of which had localized orbital disease). Diagnosis was confirmed by exam, orbital, and/or systemic radiography, and biopsy in all cases. Treatment strategies included excision or debulking, systemic corticosteroids, chemotherapy, radiotherapy, observation or a combination thereof. At last follow up, 4 patients were disease free, while 4 had residual improved disease. CONCLUSIONS: Rosai-Dorfman disease of the orbit is a rare clinical entity. Purely extranodal disease is rare, with isolated orbital disease being exceedingly rare. This study is unique in that 4 of 8 patients had strictly isolated extranodal disease of the orbit. A large majority of the cases had disease in the extraconal space, contrasting with previous reports. In addition, lacrimal gland disease, particularly bilateral involvement, was prominent in the current study. Although there is no consensus on treatment, surgical excision should be attempted if plausible in symptomatic patients especially if the orbit represents a localized site of disease.

Treatment of pseudoptosis secondary to aberrant regeneration of the facial nerve with botulinum toxin type A.

PURPOSE: To report on low-dose minimal injection treatment using botulinum toxin A for pseudoptosis secondary to aberrant facial nerve regeneration. METHODS: A retrospective chart review was carried out on 16 consecutive patients with pseudoptosis secondary to aberrant facial nerve regeneration who received botulinum toxin A injections. RESULTS: Study patients include 6 men and 10 women with median age of 65 years (range 34-78). Etiology of facial nerve palsy included Bell palsy (11), surgical injury (2), trauma (2), and Ramsay-Hunt syndrome (1). Mean duration of facial nerve palsy was 8.5 years (1.1-30). Mean duration of pseudoptosis was 6.8 years (0.5-29). Botulinum toxin A (Botox; Allergan) injections were given in the medial and lateral pretarsal upper eyelid orbicularis oculi with some patients also receiving a central and/or additional lateral injection. Mean number of injections was 2.6 (2-4). Mean total dose was 10.3 units (5-20). Subjective improvement of symptoms at follow up was noted in all cases. Margin reflex distance in all patients showed statistically significant (p < 0.001) mean improvement of 1.6 mm (0.5-2.5) during orbicularis oris contracture. No side effects were reported, and all patients desired repeat injections. Repeat injection was performed at 3- to 6-month intervals, with most patients (12) returning every 3 months. Mean follow up was 12.2 months (3-61). CONCLUSIONS: Using low doses of carefully injected botulinum toxin A into the upper eyelid can provide safe and successful treatment of pseudoptosis due to aberrant facial nerve regeneration.

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.

BACKGROUND: To characterize the clinical and genetic abnormalities within two Australian pedigrees with high incidences of retinal detachment and visual disability. DESIGN: Prospective review of two extended Australian pedigrees with high rates of retinal detachment. PARTICIPANTS: Twenty-two family members from two extended Australian pedigrees with high rates of retinal detachment were examined. METHODS: A full ophthalmic history and examination were performed, and DNA was analysed by linkage analysis and mutation screening. MAIN OUTCOME MEASURES: Characterization of a causative hereditary gene mutation in each family. RESULTS: All affected family members of one pedigree carried a C192A COL2A1 exon 2 mutation. None of the affected family members had early-onset arthritis, hearing abnormalities, abnormal clefting or facial features characteristic of classical Stickler syndrome. All affected members of the familial exudative vitreoretinopathy pedigree carried a 957delG FZD4 mutation. CONCLUSIONS: Patients with retinal detachment and a positive family history should be investigated for heritable conditions associated with retinal detachment such as Stickler syndrome and familial exudative vitreoretinopathy. The absence of non-ocular features of Stickler syndrome should raise the possibility of mutations in exon 2 of COL2A1. Similarly, late-onset familial exudative vitreoretinopathy may appear more like a rhegmatogenous detachment and not be correctly diagnosed. When a causative gene mutation is identified, cascade genetic screening of the family will facilitate genetic counselling and screening of high-risk relatives, allowing targeted management of the pre-detachment changes in affected patients.

Adult-onset bulbar ptosis in Joubert syndrome.

In this case report, we describe a case of adult-onset bulbar ptosis in a patient with Joubert syndrome. Joubert syndrome is a rare neurodevelopmental disorder with malformations in cerebellum and brainstem. Many ocular abnormalities have been noted in Joubert syndrome, but the association of this syndrome with adult-onset ptosis has not been described to date. This 24-year-old Joubert patient developed a cerebrospinal fluid cyst in her midbrain. She had signs of bilateral third nerve palsy and abducens palsy in the left eye. The bilateral central third nerve palsy causing functional blindness secondary to severe bilateral levator palsy was treated successfully with silicone sling frontalis suspension, as the seventh nerve nucleus was not involved.

Medial wall fracture- induced pneumo-orbita mimicking inferior rectus entrapment.

The authors report 2 patients who experienced medial wall blowout fractures. Both patients presented with significant restriction of upgaze, mild proptosis, and crepitus of the upper lid. Computed tomography revealed significant pneumo-orbita filling the superior orbit with inferior displacement of the muscle cone and subcutaneous emphysema. No floor fractures were seen in either patient, but in both cases, the medial wall was breached and was almost certainly the source of the intraorbital air. Patients were managed conservatively, and the vertical gaze deficiencies resolved after 3 to 5 days. Large amounts of intraorbital and extraorbital air in the absence of a floor fracture can imitate inferior rectus entrapment and could potentially lead to unnecessary surgical intervention.

Orbital compartment syndrome: the ophthalmic surgical emergency.

Orbital compartment syndrome is an uncommon, ophthalmic surgical emergency characterized by an acute rise in orbital pressure. When intraorbital tension rises, damage to ocular and other intraorbital structures, including irreversible blindness, may occur if not promptly treated. The diagnosis of orbital compartment syndrome is completely clinical and early recognition and emergent orbital decompression (even prior to imaging) is essential in preventing permanent vision loss. Lateral canthotomy and inferior cantholysis remain the mainstays of management. More extensive incision of the orbital septum and orbital bony decompression may be necessary in unresponsive cases. This review discusses the various etiologies and mechanisms resulting in orbital compartment syndrome, clinical features, imaging findings, treatment, and prognosis.

Prevalence of cicatricial trachoma in an indigenous population of Central Australia: the Central Australian Trachomatous Trichiasis Study (CATTS).

BACKGROUND: Trachoma is one of the leading causes of blindness worldwide, resulting from conjunctival scarring, upper lid entropion and trichiasis, leading to corneal scarring and opacification. This study was designed to investigate the current prevalence of cicatricial trachoma in an indigenous population within Central Australia and help determine whether trachoma remains a public health issue. METHODS: Participants aged 40 and over were recruited from patients attending one of 16 remote ophthalmology clinics held at indigenous communities in Central Australia within the Northern Territory. Once informed consent had been obtained, each patient underwent examination for evidence of trachomatous scarring, trachomatous trichiasis and corneal opacities. Results were collated and compared with previous prevalence surveys. RESULTS: Among the sample (n = 181), there were 97 patients (54%; 95% CI 46.7-61.3) with trachomatous scarring, 15 patients (8%; 95% CI 2.8-13.2) with trichiasis and 5 patients (3%; 95% CI 0.5-5.5) with corneal opacities. CONCLUSION: This study suggests that, although the prevalence of the cicatricial and blinding consequences of trachoma may be decreasing in patients aged 40 years or greater, when compared with the current prevalence in other areas of Australia, trachoma still remains a public health issue in Central Australia.