Acute diplopia as the presenting sign of silent sinus syndrome.

Silent sinus syndrome is a rare acquired condition that typically presents as enophthalmos and hypoglobus due to atelectasis of the maxillary sinus. The chronic negative pressure in the sinus slowly retracts the orbital floor, altering orbital anatomy and affecting the function of orbital contents. The authors present the first case of acute vertical diplopia as the presenting symptom of silent sinus syndrome.

Progressive myelinated retinal nerve fibers in a 10-year-old boy with Crouzon syndrome after craniofacial surgery.

Purpose: We present a case of a 10-year-old boy with Crouzon syndrome that demonstrates progressive myelinated retinal nerve fibers (MRNF). Observations: A 10-year-old boy was referred for ophthalmic examination due to clusters of opaque white fibers around his optic nerve. Past surgical history includes craniofacial surgery at 3 years of age secondary to the deteriorating vision from increased intracranial pressure and papilledema. Upon examination (now 6.5 years post-craniofacial surgery), the patient denied any ocular complaints. The fundus examination showed progressively enlarged myelination of the retinal nerve fiber layer (right eye > left eye). Although previous cases of MRNF with Crouzon syndrome have been reported, our case is unique given its post-operative status with early onset of MRNF. Conclusion and importance: This case report documents the photographic progression of bilateral myelinated retinal nerve fibers (MRNF) in a pediatric case of Crouzon syndrome post-craniofacial surgery secondary to increased intracranial pressure and papilledema. Based on our patient, craniofacial decompression surgery may not prevent the development of MRNF. The exact mechanisms of MRNF are still being studied. Further investigations correlating craniofacial surgeries, increased intracranial pressure, and progression of myelinated retinal nerve fibers are needed to understand this process.

Isolated sixth cranial nerve palsy as the presenting symptom of a rapidly expanding ACTH positive pituitary adenoma: a case report.

BACKGROUND: Pituitary adenoma may present with neuro-ophthalmic manifestations and, typically, rapid tumor expansion is the result of apoplexy. Herein, we present the first case of an isolated sixth cranial nerve palsy as initial feature of a rapidly expanding ACTH positive silent tumor without apoplexy. CASE PRESENTATION: A 44 year old female with a history of sarcoidosis presented with an isolated sixth cranial nerve palsy as the initial clinical feature of a rapidly expanding ACTH positive silent pituitary adenoma. The patient underwent emergent transsphenoidal hypophysectomy for this rapidly progressive tumor and subsequently regained complete vision and ocular motility. Despite tumor extension into the cavernous sinus, the other cranial nerves were spared during the initial presentation. CONCLUSIONS: This case illustrates the need to consider a rapidly growing pituitary tumor as a possibility when presented with a rapidly progressive ophthalmoplegia.

Cost-effective treatment of ocular surface squamous neoplasia for an undocumented and uninsured New York City patient: a case report.

BACKGROUND: New York City has a heterogeneous population with many undocumented and uninsured immigrants from equatorial areas who have a higher incidence of ocular surface squamous neoplasia. To the best of our knowledge, this is the first documented selection of this cost-effective treatment of ocular surface squamous neoplasia (the use of absolute ethanol along the corneal margin, primary excision, double freeze-thaw cryopexy, and primary conjunctival closure) for an undocumented and uninsured New York City patient. CASE PRESENTATION: A 35-year-old man from Ecuador presented to a New York City emergency department due to worsening discomfort of a long-standing left eye pterygium. A slit-lamp examination of the left eye demonstrated a nasally located conjunctival mass measuring 6 × 8 mm extending onto the cornea (3 mm superiorly and 6 mm inferiorly on the cornea). Histological diagnosis confirmed squamous cell carcinoma in situ arising from the pterygium. Surgical excision with adjunctive absolute alcohol with additive double freeze-thaw cryopexy was performed. Our patient has remained free of tumor recurrence at year 2 postoperative visit. CONCLUSIONS: Our case highlights the need to choose a cost-effective treatment for ocular surface squamous neoplasia in an at-risk population among undocumented and uninsured patients. Areas in the world with similar types of populations or treatment challenges may need to consider this approach as a primary treatment option.

Diplopia and proptosis due to isolated lateral rectus plasmacytoma in a patient with multiple myeloma.

Orbital involvement of multiple myeloma (MM) is uncommon, with most of those reported cases occurring at the time of initial diagnosis of MM. We present a case of an extramedullary plasmacytoma involving only the right lateral rectus of a patient who had been in disease remission. The patient presented with new-onset diplopia and an abduction deficit of the right eye, with mild proptosis. In light of her past medical history of MM, an orbital MRI was obtained. The MRI demonstrated an isolated finding of eccentric enlargement of the right lateral rectus muscle limited to the muscle belly with sparing of the tendinous insertions, leading to diagnosis of plasmacytoma. Patching of the involved eye to alleviate the symptoms of diplopia was instituted. Chemotherapy was initiated, followed by orbital radiation and stem-cell transplantation for coexisting systemic disease. The orbital symptoms of proptosis and diplopia resolved within 1 month of treatment.

Endocapsular cellulomonas as a cause of persistent postoperative endophthalmitis.

Sequestration of bacteria within the capsular fornices after cataract extraction with intraocular lens implantation can cause both acute and chronic inflammation. A case of persistent postoperative endophthalmitis caused by capsular sequestration of Cellulomonas is described. The patient underwent uncomplicated cataract extraction with intraocular lens implantation and subsequently developed acute postoperative endophthalmitis. Inflammation persisted despite several vitreous taps and the injection of intravitreal antibiotics. Definitive treatment required pars plana vitrectomy, intraocular lens explantation, capsular bag removal, and intravitreal and parenteral antibiotics. In patients with postoperative endophthalmitis, one must consider atypical organisms as the source and should consider explantation of the intraocular lens with capsular bag removal.

Visual Loss Induced by Adalimumab Used for Plaque Psoriasis.

A 61-year-old Caucasian male with severe plaque psoriasis without joint involvement was initiated on adalimumab therapy. Shortly thereafter he presented to the emergency room with acute loss of vision in the right eye. A comprehensive systemic workup was instituted which included magnetic resonance imaging (MRI) with and without gadolinium of the brain and orbits. MRI revealed findings that were consistent with CNS demyelination and retrobulbar optic neuritis. Immediate cessation of adalimumab was instituted without any other systemic therapy. Complete return of vision occurred within 6 weeks. No additional psoriatic or neurologic treatment was instituted, and the patient has remained stable now for 14 months.

ERG and OCT findings of a patient with a clinical diagnosis of occult macular dystrophy in a patient of Ashkenazi Jewish descent associated with a novel mutation in the gene encoding RP1L1.

A 57-year-old man with a past medical history of diabetes presented for consultation with a several year history of slowly progressive vision loss in both eyes, which continued to deteriorate over 7 years of follow-up. Multimodal imaging was performed and was significant for the following: on spectral domain optical coherence tomography, a gap lesion was present in the ellipsoid layer, beneath the umbo, as well as subtle macular changes on auto fluorescence imaging. Multifocal electroretinography was performed and was abnormal, and a clinical diagnosis of occult macular dystrophy was made. The patient was subsequently evaluated with genetic testing that revealed a novel p.P73S:c 217C>T nonsense mutation within the retinitis pigmentosa 1-like-1 (RP1L1) gene. The clinical significance of the identified variation will require further investigation.

Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia.

BACKGROUND: Foveal hypoplasia (FH) in the absence of albinism, aniridia, microphthalmia, or achromatopsia is exceedingly rare, and the molecular basis for the disorder remains unknown. FH is characterized by the absence of both the retinal foveal pit and avascular zone, but with preserved retinal architecture. SLC38A8 encodes a sodium-coupled neutral amino acid transporter with a preference for glutamate as a substrate. SLC38A8 has been linked to FH. Here, we describe a novel mutation to SLC38A8 which causes FH, and report the novel use of OCT-angiography to improve the precision of FH diagnosis. More so, we used computational modeling to explore possible functional effects of known SLC38A8 mutations. METHODS: Fundus autofluorescence, SD-OCT, and OCT-angiography were used to make the clinical diagnosis. Whole-exome sequencing led to the identification of a novel disease-causing variant in SLC38A8. Computational modeling approaches were used to visualize known SLC38A8 mutations, as well as to predict mutation effects on transporter structure and function. RESULTS: We identified a novel point mutation in SLC38A8 that causes FH. A conclusive diagnosis was made using OCT-angiography, which more clearly revealed retinal vasculature penetrating into the foveal region. Structural modeling of the channel showed the mutation was near previously published mutations, clustered on an extracellular loop. Our modeling also predicted that the mutation destabilizes the protein by altering the electrostatic potential within the channel pore. CONCLUSION: Our results demonstrate a novel use for OCT-angiography in confirming FH, and also uncover genotype-phenotype correlations of FH-linked SLC38A8 mutations.

Peripheral ulcerative keratitis in sarcoidosis: a case report.

PURPOSE: To document a case of peripheral ulcerative keratitis (PUK) that progressed to corneal perforation in the setting of recently diagnosed sarcoidosis. DESIGN: Observational case report. METHODS: A 42-year-old white woman presented with a 2-day history of tearing and decreased vision OD, secondary to PUK with corneal perforation. Slit-lamp evaluation revealed bilateral peripheral corneal thinning with vascularized scarring. History, clinical examination, chart review, peripheral lamellar keratoplasty, serologies, and bronchoscopy with biopsy were performed. RESULTS: After lamellar keratoplasty, visual acuity was 20/400 OD and 20/20 OS. She was treated with oral prednisone and high-dose Cytoxan therapy. One year postperforation, she received a limbus-to-limbus penetrating keratoplasty OD. One year after penetrating keratoplasty, the patient's BCVA OD is 20/40. She has stable scarring OS. Workup has revealed serologic and pathologic evidence of sarcoidosis without evidence of any other seropositive vasculitic disease. CONCLUSION: This patient represents the first known case report of PUK in sarcoidosis. Oral Cytoxan, steroids, and topical cyclosporine have stabilized the disease process in this patient.

Bilateral sequential Propionibacterium acnes exogenous endophthalmitis.

A 68-year-old man underwent uncomplicated sequential cataract extractions performed more than a year apart. He presented 6 months after the second surgery with persistent intraocular inflammation in both eyes. Cultures from both eyes grew Propionibacterium acnes and he responded well to treatment. Suspicion for delayed-onset post-operative endophthalmitis must remain high in uveitis cases that fail to resolve with anti-inflammatory treatments. The authors believe this is the first reported case of bilateral sequential P. acnes exogenous endophthalmitis.

PSEUDO UVEAL MELANOMA CAUSED BY OPTIC DISK DRUSEN WITH JUXTAPAPILLARY CHOROIDAL NEOVASCULAR MEMBRANE.

PURPOSE: To describe two cases of choroidal hemorrhage caused by optic disk drusen-induced choroidal neovascularization simulating uveal melanoma. METHODS: Observational case reports of two patients and brief review of the literature. RESULTS: Two patients were referred with pigmented juxtapapillary lesions concerning for choroidal melanoma. Multimodal imaging revealed the presence of optic disk drusen with overlying choroidal neovascular membranes and peripapillary choroidal hemorrhage. Both patients were treated with antivascular endothelial growth factor and the lesions resolved. CONCLUSION: In the setting of diagnostic uncertainty, careful multimodal imaging can assist in distinguishing between malignant choroidal melanoma and a benign simulating lesion. Optic disk drusen with associated neovascularization and hemorrhage should be included in the list of pseudomelanomas.

Retinal vein thrombosis as the presenting symptom of essential thrombocythemia.

Visual loss resulting from retinal vascular disorders can be the presenting sign of serious systemic disease. Associations between retinal vein thrombosis and other systemic disorders have been well documented, but a comprehensive literature search failed to reveal any report of essential thrombocythemia as a cause of central retinal vein thrombosis. We describe the first young female patient with symptomatic visual loss due to central retinal vein thrombosis as her presenting symptom of essential thrombocythemia.

Keratoconus in an adult with 22q11.2 deletion syndrome.

22q11.2 Deletion syndrome is one of the most common microdeletional syndromes, with an incidence of 1:4000 live-births, and potentially affects every organ in the body. More than 180 associated clinical features have been reported and not one phenotypic feature is present in 100% of cases. Ocular manifestations reported based on early childhood examinations include eyelid hooding, strabismus, posterior embryotoxon, retinal vessel tortuosity and refractive errors. Keratoconus has been reported once before in association with 22q11.2 deletion syndrome in a young adult. We report the second case of keratoconus in association with 22q11.2 deletion syndrome.