Ramzi M. Alameddine

Reconstruction of Unilateral Incomplete Cryptophthalmos in Fraser Syndrome.

A full-term baby girl with Fraser syndrome was born with right incomplete cryptophthalmos. On examination, the globe was completely covered with skin with partially formed eyelids laterally. At 3 years of age, she underwent an evisceration with orbital implant and reconstruction of the eyelids and fornices using the pre-existing scleral remnant. Custom ocular prosthetic fitting was performed 5 weeks postoperatively. At 4 years follow up, she continued to successfully retain an ocular prosthesis.

Transcriptome Analysis of Orbital Adipose Tissue in Active Thyroid Eye Disease Using Next Generation RNA Sequencing Technology.

Objective: This study utilized Next Generation Sequencing (NGS) to identify differentially expressed transcripts in orbital adipose tissue from patients with active Thyroid Eye Disease (TED) versus healthy controls. Method: This prospective, case-control study enrolled three patients with severe, active thyroid eye disease undergoing orbital decompression, and three healthy controls undergoing routine eyelid surgery with removal of orbital fat. RNA Sequencing (RNA-Seq) was performed on freshly obtained orbital adipose tissue from study patients to analyze the transcriptome. Bioinformatics analysis was performed to determine pathways and processes enriched for the differential expression profile. Quantitative Reverse Transcriptase-Polymerase Chain Reaction (qRT-PCR) was performed to validate the differential expression of selected genes identified by RNA-Seq. Results: RNA-Seq identified 328 differentially expressed genes associated with active thyroid eye disease, many of which were responsible for mediating inflammation, cytokine signaling, adipogenesis, IGF-1 signaling, and glycosaminoglycan binding. The IL-5 and chemokine signaling pathways were highly enriched, and very-low-density-lipoprotein receptor activity and statin medications were implicated as having a potential role in TED. Conclusion: This study is the first to use RNA-Seq technology to elucidate differential gene expression associated with active, severe TED. This study suggests a transcriptional basis for the role of statins in modulating differentially expressed genes that mediate the pathogenesis of thyroid eye disease. Furthermore, the identification of genes with altered levels of expression in active, severe TED may inform the molecular pathways central to this clinical phenotype and guide the development of novel therapeutic agents.

Orbital fat regeneration following hormonal treatment of metastatic breast carcinoma

ABSTRACT Enophthalmos in the setting of breast cancer metastatic to the orbit results primarily from the disease pathogenesis, or secondary to treatment effects. Orbital volume restoration and fat regeneration following endocrine treatment monotherapy has not been previously reported. A 76- year-old previously healthy female presented with progressive right enophthalmos secondary to metastatic lobular breast carcinoma. Treatment with an aromatase inhibitor (letrozole) resulted in tumor regression and orbital fat restoration with a corresponding improvement in orbital volume and enophthalmos on clinical exam. The patient is alive on continued letrozole with no progressive disease ten years after diagnosis. This case illustrates the resilience of orbital soft tissues and ability of orbital fat to regenerate in face of breast cancer metastasis. We hypothesize that endocrine monotherapy, and avoidance of radiation therapy, allowed for differentiation of remaining orbital stem cells, and facilitated the fat regenerative process.

Aesthetic Rejuvenation in the Patient of Asian Ancestry

Abstract 1. Aesthetic ideals differ between various Asian cultures. The preferred aesthetic enhancement is typically a highlighting of natural ethnic features rather than complete transformation. 2. Fullness, sharp angles, and epicanthal folds uniquely characterize eyelids in persons of Asian ancestry. 3. Anatomic differences in the orbital septum, levator palpebrae aponeurosis, and distribution of adipose tissues explain the varying configurations of creases that are seen in persons of Asian ancestry. 4. The surgeon should have a detailed preoperative discussion to elicit the patients preference with regard to the height and configuration of the eyelid crease and any epicanthal fold or volume alterations. 5. Both open and closed surgical techniques have been described for crease fixation, aimed at creating adhesions between the levator aponeurosis and the skin-orbicularis complex at the desired crease location. 6. Our preferred surgical approach is the open technique, which typically yields a more physiologic and dynamic crease. The open technique also allows for more precise crease fixation and modification of the orbital fat, if desired. 7. Most common postoperative concerns relate to eyelid crease asymmetry and poor longevity.

Incidence of diplopia after division and reattachment of the inferior oblique muscle during orbital fracture repair

BACKGROUND Wide surgical access to the orbital floor and medial wall is often impaired by the course of the inferior oblique muscle. There is no current consensus on the optimal surgical approach for exposure, and techniques involving inferior oblique division are generally shunned for concern of possible complications. OBJECTIVE To determine the safety and outcomes of inferior oblique division and reattachment for surgical access to the orbital floor and medial wall during orbital fracture repair. METHODS Retrospective, single-center, review of 85 patients that underwent orbital floor, medial wall or combined fracture repair with division and reattachment of the inferior oblique near its origin. Measured characteristics include surgical approach, type of surgery, time to surgery, pre- and post-operative diplopia, enophthalmos, and complications. RESULTS Forty-five patients (52.9%) with no pre-operative diplopia were followed up for a mean of six months. Of these, six patients (13.3%) developed post-operative binocular diplopia that resolved in all patients on an average of three months (range 2-6 months). No patients developed torsional diplopia. One patient developed a hematoma two years later attributable to capsular contraction around the implant. CONCLUSION Division and reattachment of the inferior oblique muscle is a safe method that allows for panoramic surgical visualization of the inferior and medial orbit.

Unilateral Alacrima as a Presenting Symptom of Nasopharyngeal Carcinoma.

Advanced nasopharyngeal carcinoma may present to oculoplastic surgeons and ophthalmologists as epiphora or medial canthus swelling. In contrast, the authors describe an uncommon initial presentation of alacrima in a 30-year-old female with nasopharyngeal carcinoma without invasion of the nasolacrimal sac, duct, or lacrimal gland. The diagnosis was delayed due an initial misdiagnosis of dry eye. Nasopharyngeal carcinoma should be included in the differential for diminished tear production, especially if it presents asymmetrically.

Intraosseous Meningioma Masquerading as Fibrous Dysplasia

Background: Intraosseous meningiomas often display clinical and radiologic features that can be confused for fibrous dysplasia. Histopathology usually confirms the diagnosis. We present a case initially misdiagnosed as fibrous dysplasia by histopathology. Methods: A 58-year-old male presented with worsening proptosis and vision loss. He was previously diagnosed with fibrous dysplasia at an outside institution, with histologic confirmation of the diagnosis during orbital decompression. Results: On examination there was evidence of optic neuropathy and mild restriction of gaze. Imaging revealed a large ossified mass of the greater sphenoid wing. Craniotomy and surgical decompression resulted in improved vision and symptoms. Histopathology revealed meningioma with bony and dural components. Conclusions: This case emphasizes the need for a high level of suspicion and representative biopsies to reach prompt diagnosis of meningiomas in cases of recurrent or atypical fibrous dysplasia

Case report: Cysticercosis with an orbital tropism in twins

Two fraternal twin sisters developed cysticercosis localizing to the right lateral orbit over the same period after a presumed common-source exposure in China. This case demonstrates that cysticercosis can be related to travel. Similar temporal and spatial occurrences of these infections suggest a genetic tropism of the infecting organism in these twins.