Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome.

PURPOSE: To report the newest ophthalmic manifestations of a mother-daughter pair diagnosed with toe syndactyly, telecanthus, anogenital and renal malformations (STAR) syndrome, a rare X-linked developmental disorder. METHODS: The medical and ophthalmic records were reviewed for a mother-daughter pair diagnosed with FAM58A confirmed STAR syndrome on chromosome Xq28. RESULTS: The mother at birth had left foot syndactyly, telecanthus, anal stenosis, and clitoromegaly and was told at 19 she had a hypoplastic left kidney. The daughter, born at 38 weeks after a complication of oligohydramnios, had a more severe presentation, demonstrating toe syndactyly, telecanthus, anal stenosis, clitoromegaly, bilateral renal hypoplasia, ureteral reflux, urogenital sinus, and congenital heart disease amongst others. The pair shared similar ophthalmic findings, though those of the daughter were more pronounced. They included bilateral, medial upper eyelid prominences with madarosis, mild peripapillary atrophy, and soft macular drusen with the daughter also displaying optic nerve hypoplasia and peripheral anterior synechia in the iridocorneal angle. CONCLUSION: These ophthalmic findings are the first reported to our knowledge in association with STAR syndrome. The literature frequently demonstrates that patients with developmental anomalies often have ocular manifestations, warranting a full ophthalmic examination when the diagnosis of STAR syndrome has been made or is being considered.

Eyebrow Position Following Upper Blepharoplasty.

PURPOSE: To evaluate the effect of upper blepharoplasty on eyebrow height, accounting for ocular dominance, fat excision, change in MRD1, and degree of dermatochalasis. METHODS: Retrospective review of patients undergoing upper blepharoplasty between January 2013 and July 2014. Patients with a prior history of ocular trauma, disease, and surgery were excluded. Digital photographs were analyzed using NIH ImageJ software to measure pre and postoperative eyebrow height at the medial, central, and lateral positions, MRD1, and dermatochalasis. Univariable comparisons of brow height and MRD1 were performed. A multivariate analysis was used to assess for the effect of percentage change in MRD1 and dermatochalasis and of ocular dominance and fat excision in mean percentage change of eyebrow height. RESULTS: Charts of 19 patients were reviewed. Mean age was 73.2 years (SD = 8.86). There were 9 male (47.4%) and 10 female (52.6%) patients. There were 11 right eye dominant (57.9%) and 8 left eye dominant (42.1%) patients. Then 13 patients (68.4%) underwent fat removal. A univariable comparison found insufficient evidence to suggest a significant change from 0 postoperatively in brow height at all positions. A multivariable comparison found insufficient evidence to suggest MRD1, ocular dominance, or dermatochalasis were significantly associated with mean percentage change in brow height at all positions with or without fat excision. CONCLUSION: Upper blepharoplasty does not change eyebrow height at the medial, central, or lateral positions, after accounting for any impact of ocular dominance, fat excision, change in MRD1, or degree of dermatochalasis.

Visual Acuity Improvement of Amblyopia in an Adult With Levodopa/Carbidopa Treatment.

Amblyopia is the leading cause of visual loss in children, affecting 2% to 3% of the population. Occlusion of the dominant eye is the primary and best treatment, although efficacy decreases after 6 years of age. As a result, levodopa/carbidopa has been explored as an adjunct to conventional therapy and has been shown to have an immediate impact on visual acuity. Several studies to date have shown mixed results on the benefit of supplementing occlusion therapy with levodopa/carbidopa, although they have primarily studied children. The authors describe the oldest patient (46 years old) documented in the literature to have shown improvement in visual acuity using levodopa/carbidopa. He was given a 16-week course at a dose in line with previous studies while being effectively occluded full time due to a glaucomatous right eye with no light perception. On 3-month follow-up, his left eye improved two lines and stabilized at 6 months.

Canalicular laceration repair using a viscoelastic injection to locate and dilate the proximal torn edge.

BACKGROUND: Canalicular lacerations are common complications of eyelid trauma in the pediatric population. Irrigating air, water, and colored or viscous agents through the intact canaliculus have been suggested to identify the torn proximal edge. We report our experience in repairing canalicular lacerations using a novel viscoelastic injection technique with a Monoka monocanalicular stent. METHODS: The medical records of patients <18 years of age who underwent repair of a canalicular laceration with a monocanalicular stent using superficial viscoelastic deployment to locate the torn canaliculus were retrospectively reviewed. Demographics, cause of eyelid injury, surgical management using our novel viscoelastic injection technique, and outcome were analyzed. RESULTS: A total of 38 children with lid lacerations were identified, of whom the 17 with canalicular involvement were included (mean age, 6.27 years). Canalicular injury in these 17 was due to dog bite (9 patients) and shearing trauma (8 patients). In 11 patients, the injury was located in the lower lid; in 4, the upper lid; and in 2, combined upper and lower lids. All patients had good anatomic repair and on follow-up had negative dye disappearance tests and were free of tearing. CONCLUSIONS: Deploying viscoelastic superficially near, and injecting into the injured canaliculus can improve visualization of the operative field by retracting the surrounding tissue and tamponading any bleeding, which aids in location and dilation of the torn canaliculus initially and in subsequent steps, eases intubation into the lubricated torn canaliculus and nasolacrimal duct, and avoids iatrogenic injury to an uninjured canaliculus.

Prenatal diagnosis of colobomatous microphthalmos.

Optic nerve coloboma and microphthalmos with colobomatous cyst are rare congenital anomalies that are difficult to detect on prenatal ultrasonography and magnetic resonance imaging. Only four cases of optic nerve coloboma and two cases of microphthalmos with colobomatous cyst have been detected on prenatal imaging. The authors report a case of a fetus initially suspected to have retinoblastoma of the right eye on prenatal ultrasonography who was later diagnosed as having microphthalmos on fetal magnetic resonance imaging. Following delivery, she was noted to have microphthalmos with colobomatous cyst of the right eye and optic nerve coloboma of the left eye. The authors also review the prenatal ocular imaging findings of the differential diagnosis.

CT-guided cryoablation for palliation of secondary trigeminal neuralgia from head and neck malignancy.

BACKGROUND: Facial pain is a common presentation secondary to tumoral invasion, rendering an individual unable to perform basic activities such as eating and talking. Cryotherapy may be appropriate in patients seeking immediate pain relief for trigeminal neuralgia (TN) near the end of life with its minimal invasiveness and procedural morbidity. While cryosurgery has been effectively demonstrated in the treatment of primary TN, this study is unique as it is the first documented use of CT guidance and treatment of secondary TN using percutaneous cryoablation. AIM: To perform and report experience with CT-guided percutaneous cryoablation, a palliative treatment for TN secondary to recurrent invasive head and neck carcinoma, in patients previously treated with chemotherapy, radiotherapy and/or surgery with the goal of improving functional status and quality of life. METHODS: Palliative cryoablation procedures performed under CT guidance on recurrent head and neck malignancy between September 2010 and June 2011 were retrospectively analyzed. The procedure was performed under general anesthesia or conscious sedation. For each patient, 1-2 cryoprobes were placed in the tumor and two or four freeze-thaw cycles were performed. Patients were evaluated for facial pain relief immediately after treatment by telephone follow-up. RESULTS: Three patients underwent treatment for three masses using CT-guided percutaneous cryoablation. On imaging, technical success was achieved in all cases with hypodense ice formation encompassing symptomatic lesions on the CT scan. No procedural complications were encountered with post-procedure pain relief and reduction in required pain medication noted in all patients. One patient had 1 month of pain relief before the symptoms returned. CONCLUSION: CT-guided percutaneous cryoablation is an efficient minimally invasive method for the palliative treatment of TN secondary to recurrent invasive head and neck carcinoma as a result of direct tumoral invasion of the extracranial divisions of the trigeminal nerve. Patients meeting the therapeutic criteria of individuals treated for musculoskeletal metastatic lesions may benefit from this treatment. The results suggest it may not currently be a curative technique as one patient's symptoms returned, but it could prove useful as an adjunct to current palliative therapies with minimal invasiveness and procedural morbidity, especially in patients seeking pain palliation, improved functional status and improved quality of life near the end of life.