Cryptophthalmos: associated syndromes and genetic disorders.

PURPOSE: Cryptophthalmos is a rare congenital condition caused by anomalous eyelid development where the eyelid folds do not develop or fail to separate. Cryptophthalmos can be unilateral or bilateral and can occur in isolation or as part of an underlying syndrome. We aim to identify genetic syndromes associated with cryptophthalmos to facilitate genetic diagnosis. METHODS: We performed a retrospective medical record review of all patients diagnosed with cryptophthalmos followed at a single center between 2000 and 2020. The analysis included medical history, clinical examination findings, and genetic testing results. RESULTS: Thirteen patients were included, 10 (77%) males, mean age of 2.4 years. Eight (61%) had bilateral cryptophthalmos, and 4 (31%) had complete cryptophthalmos. Associated ocular abnormalities included corneal opacities (13/13, 100%), upper eyelid colobomas (12/13, 92%), and microphthalmia/clinical anophthalmia (3/13, 23%). All cases of complete cryptophthalmos had bilateral disease. An underlying clinical or molecular diagnosis was identified in 10/13 (77%) cases, including Fraser syndrome (n = 5), amniotic band syndrome (n = 1), FREM1-related disease (n = 1), Goldenhar versus Schimmelpenning syndrome (n = 1), MOTA syndrome (n = 1), and CELSR2-related disease (n = 1). CONCLUSION: This is the first report of a possible association between cryptophthalmos and biallelic CELSR2 variants. Children with cryptophthalmos, especially those with extra-ocular involvement, should be referred for comprehensive genetic evaluation.

Cavernous sinus thrombosis with bilateral orbital vein involvement and diffuse ischemic retinopathy / Trombose do seio cavernoso com envolvimento bilateral das veias orbitais e retinopatia isquêmica difusa

ABSTRACT A 53-year-old man with a 3-day history of periorbital swelling and vision loss in the left eye was found to have septic cavernous sinus thrombosis with bilateral orbital vein involvement causing congestive orbitopathy. He was treated with an emergent canthotomy and cantholysis, intraocular pressure-lowering drops, antibiotics, anticoagulation, and serial examinations. Optical coherence tomography ultimately revealed diffuse ischemic destruction of both layers of the retina, which suggested occlusion of the ophthalmic artery or the short posterior ciliary arteries and central retinal artery without intracavernous internal carotid artery involvement. The patient remained without light perception in the left eye after treatment.

RESUMO Um homem de 53 anos, com história de 3 dias de edema periorbital e perda de visão no olho esquerdo, apresentou trombose séptica do seio cavernoso com envolvimento bilateral das veias orbitais, causando uma orbitopatia congestiva. O paciente foi tratado com uma cantotomia e cantólise de emergência, colírios para redução da pressão intraocular, antibióticos, anticoagulantes e exames seriados. A tomografia de coerência óptica finalmente demonstrou destruição isquêmica difusa de ambas as camadas da retina, sugerindo uma oclusão da artéria oftálmica ou das artérias ciliares posteriores curtas e da artéria retiniana central, com ausência de envolvimento do segmento intracavernoso da artéria carótida interna. O paciente permaneceu sem percepção luminosa no olho esquerdo.

Cavernous sinus thrombosis with bilateral orbital vein involvement and diffuse ischemic retinopathy.

A 53-year-old man with a 3-day history of periorbital swelling and vision loss in the left eye was found to have septic cavernous sinus thrombosis with bilateral orbital vein involvement causing congestive orbitopathy. He was treated with an emergent canthotomy and cantholysis, intraocular pressure-lowering drops, antibiotics, anticoagulation, and serial examinations. Optical coherence tomography ultimately revealed diffuse ischemic destruction of both layers of the retina, which suggested occlusion of the ophthalmic artery or the short posterior ciliary arteries and central retinal artery without intracavernous internal carotid artery involvement. The patient remained without light perception in the left eye after treatment.

Vision Loss as a Presenting Feature of Chronic Inflammatory Demyelinating Polyneuropathy: A Case Series.

BACKGROUND: Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired, immune-mediated, and clinically heterogeneous demyelinating disease affecting the nerve roots and peripheral nerves. We report a series of 4 patients who presented with early and progressive vision loss in the context of new-onset CIDP: 3 due to papilledema and 1 due to optic neuropathy without papilledema. METHODS: This was a retrospective case series of 4 patients with vision loss as a presenting feature of CIDP evaluated at the Hospital of the University of Pennsylvania from January 2016 to August 2021. Demographic, clinical, diagnostic, and treatment data were collected via retrospective medical record review. RESULTS: Case 1 was a 51-year-old man with 2 months of progressive bilateral papilledema associated with reduced visual acuity (count fingers at 1 foot in each eye) and severely constricted visual fields. Case 2 was a 36-year-old man with 4 months of worsening headaches, reduced visual acuity (count fingers at 1 foot in each eye), severely constricted visual fields, and papilledema. Case 3 was a 39-year-old man with papilledema causing progressive vision loss (20/80 in both eyes), headaches, and relapsing limb sensorimotor deficits. Case 4 was a 19-year-old man with 3 months of progressive bilateral visual decline (20/400 in the right eye, 20/600 in the left eye), central scotoma, and optic disc pallor consistent with optic neuropathy without papilledema. All 4 patients met clinical and electrodiagnostic criteria of CIDP. Cases 3 and 4 each tested positive for serum neurofascin-155 IgG4 antibodies. All patients were managed with immunomodulatory therapy. Cases 1 and 2 also each required surgical intervention with bilateral optic nerve sheath fenestration and cerebrospinal fluid (CSF) shunting procedures. CONCLUSION: Vision loss from optic neuropathy with or without papilledema has rarely been reported in CIDP, and typically has been described in the context of longstanding disease. Our cases highlight how CIDP can present with early vision loss that may be profound and challenging to manage if diagnosis is delayed. CIDP should be considered in any patient with new progressive vision loss when associated with peripheral sensorimotor symptoms and elevated CSF protein. The small subgroup of CIDP patients with neurofascin-155 antibodies may be at particular risk of optic nerve involvement.

Long-Term Burden of Pain and Reduced Visual Acuity after Gunshot Wounds to the Orbit.

PURPOSE: To characterize the clinical presentation, surgical management, long-term complications and outcomes of Gunshot Wounds(GSW) to the orbit. METHODS: An extended case series with retrospective chart-review was conducted on all cases (1985-2020) of traumatic ocular injuries secondary to GSWs at an academic institution with a level 1 trauma center. Predictors included demographic information, clinical and radiologic examination findings, and surgical intervention at time of presentation. Outcomes included long-term lid malposition, visual acuity, pain, and secondary surgery. Descriptive statistics and tests of association were performed, including Fishers exact tests for categorical data, Kruskal-Wallis rank sum tests, analysis of variance, and, in the case of repeated measures, generalized estimating equations. RESULTS: 88 patients with GSW involving the orbit were included with average age of 32.6 years (sd = 15.7). Patients were 85.2% male, 75% African-American, 25.0% Caucasian, and 5.7% Hispanic. Median follow up was 43.3 months (4.6, 136.4). The injuries at presentation were 53.4% intracranial, 21.6% open globe, 80.7% orbital fracture, 89.8% lid laceration. Visual acuity did not significantly improve over time. Long-term complications included abnormal lid or globe position in 26.1% of patients, reduced visual acuity in 55.2%, and persistent pain in 50.6%. CONCLUSION: To our knowledge, this represents the first and largest clinical epidemiologic study with insight into the clinical presentation, surgical intervention, and long-term outcomes of GSW to the orbit. The results demonstrate a long-term burden of persistent pain and reduced visual acuity in patients who suffer from GSW to the globe and orbit. This study may guide patient management and communications.

Mohs Micrographic Surgery for Facial Merkel Cell Carcinoma.

BACKGROUND: Merkel cell carcinoma (MCC) is a rare malignant cutaneous tumor with frequent metastases. They often appear in the face where cosmetic and functional outcome is critical. Mohs micrographic surgery (MMS) is a controlled intervention that optimizes negative margins without sacrificing tissue. OBJECTIVE: A comprehensive assessment of outcomes of MMS-treated facial MCC will help guide clinicians in surgical and medical management. METHODS & MATERIALS: Retrospective review identified facial MCC cases treated with MMS at a single institution from January 2005 to August 2020. Tumor characteristics and outcomes were recorded and descriptive and predictive analyses were performed. RESULTS: 34 cases were reviewed with a mean followup of 34.4 months. The most common sites were the forehead, cheek-jaw region, and nasal ala. 2 (5.9%) patients had local recurrence by a mean of 4.3 months. No documented variables were significantly associated with local recurrence. 8 (23.5%) patients had progression to metastasis by a mean of 9.4 months. Younger age at biopsy and surgery, male sex, and intraoperative detection of in-transit disease were significantly associated with progression to metastasis. CONCLUSIONS: In summary, the tissue-sparing approach of MMS may be beneficial for MCC in cosmetically and functionally sensitive facial locations as it preserves tissue without compromising outcomes.

Sebaceous Carcinoma of the Face Treated With Mohs Micrographic Surgery.

BACKGROUND: Mohs micrographic surgery (MMS) for sebaceous carcinoma (SC) may reduce local recurrence rates, but published case series have small cohorts and limited follow-up. Mohs micrographic surgery is particularly suitable for sensitive functional and cosmetic locations, such as the face, because it facilitates tissue conservation using complete peripheral and deep margin assessment before reconstruction. Coordinated care between Mohs and oculoplastic surgeons has not been described. OBJECTIVE: To assess rates of local recurrence and metastasis after MMS of facial SC and to describe coordinated care between Mohs and oculoplastic surgeons. MATERIALS AND METHODS: Retrospective review identified facial SC cases treated with MMS at a single institution from January 2005 to August 2020. Tumor characteristics and outcomes were recorded. Descriptive and predictive analyses were performed. RESULTS: Forty-nine cases were reviewed with a mean follow-up of 51 months. The most common sites were periorbital, infraorbital cheek, and nasal ala. No patients experienced regional recurrence after MMS. One patient with Muir-Torre syndrome developed metastatic recurrence (at 82.9 months). All patients underwent 2-stage reconstruction with dermatology-performed MMS and oculoplastic reconstruction. CONCLUSION: Collaboration between Mohs and oculoplastic surgeons with a tissue-sparing approach of MMS can reduce recurrence and optimize cosmesis and function for central facial SC.

Changes in Intraocular Pressure with Use of Periocular Triamcinolone Cream.

Purpose: To evaluate the effect of periocular topical triamcinolone cream on intraocular pressure. Methods: A retrospective chart review identified 57 patients, 114 eyes using triamcinolone cream (0.1%, 0.025%) with subsequent intraocular pressure (IOP) checks at three follow-up visits. Descriptive, univariate, and multivariate analyses were performed to assess effects of age, therapy duration, consecutive weeks on steroid, prescription strength, time of day, and method of measurement on IOP levels. Generalized Estimating Equations were used in regression models to account for correlation of eyes within subjects and across visits. Results: We identified 57 patients using triamcinolone cream for allergic or eczematous dermatitis of the eyelid. Prescription strengths were 0.025% or 0.1% and patients were followed for a median of 4.9 months. Measurements of IOP at baseline did not change as compared to all IOP measurements at follow-ups and did not change with steroid strength. The mean change in IOP at all follow-up visits was 0.07 mm Hg (95% confidence interval [CI]: -0.36, 0.50). After adjustment for the method of tonometer and the patient's age, the mean change was 0.03 mm Hg (95% CI: -0.68, 0.73, P = 0.93). Prescription strength and consecutive weeks of therapy were not associated with IOP. Two patients experienced a significant elevation in IOP of > 10 mm Hg, one through the concomitant consequences of systemic corticosteroids usage and the other through prolonged topical application. Conclusion: In patients taking periocular triamcinolone cream, there was no clinically meaningful change in mean IOP between baseline and follow-up visits, and IOP measurements were not related to variances in prescription strength or duration of therapy.

Hypotony Without Globe Rupture During Orbital Fracture Repair.

A 29-year-old male presented to the emergency department with an orbital fracture. He denied ocular symptoms and CT showed bilateral fracture of nasal bones, left medial orbital wall, and left orbital floor, with herniation of orbital fat and minimal retrobulbar hematoma. Pre-operative ophthalmic exam was unremarkable. Intra-operatively, intraocular pressure of the left eye was 5 mm Hg, a significant change from 17 mm Hg preoperatively. Globe exploration revealed no injury. Post-operatively, IOP normalized. With these findings it was felt that ocular manipulation related to the orbital fracture repair placed significant and intermittent pressure on the globe, thereby lowering IOP. Laryngoscope, 131:2238-2240, 2021.

Can smiling influence the blood flow in the facial vein?-An experimental study.

BACKGROUND: The understanding of functional facial anatomy and the interplay between facial structures is crucial for safe and effective minimally invasive and cosmetic surgical procedures. AIM: In this experimental study, we investigate the hypothesis that smiling can alter the blood flow in the angular/facial vein. MATERIALS AND METHODS: Twenty-six observations from 15 healthy volunteers (6 men, 9 women) with a mean age of 50.53 ± 13.27 (range: 24-66) were obtained. Doppler ultrasound imaging of the infraorbital segment of the angular vein (cranial to the zygomaticus major muscle) was performed and the venous flow was measured in a smiling and a resting, nonsmiling facial position. RESULTS: A statistically significant change in venous blood flow was detected upon smiling: a reduction in flow from 6.12 ± 3.0 cm/s to 0.52 ± 1.3 cm/s (P = .001). After three seconds, 80.8% of the observations had a blood flow of 0.0 cm/s. Increasing age was significantly correlated with a persistent blood flow during smiling (rp  = .469; P = .016). No differences between gender and sides of the face were observed. CONCLUSION: The results of this experimental study reveal that smiling can significantly reduce the venous flow in the angular/facial vein. Contraction of the zygomaticus major muscle compresses the vein against the underlying maxilla. Both minimally invasive and surgical procedures that alter the SMAS, the periocular musculature or the deep midfacial fat compartments might affect angular/facial venous flow.

Quantitative Assessment of Dry Eye Parameters After Müller's Muscle-Conjunctival Resection.

PURPOSE: Müller's muscle-conjunctival resection (MMCR) is a highly effective technique to correct upper eyelid ptosis. However, several authorities have raised concerns about the possibility of postoperative ocular surface dryness. This study was performed to assess the impact of MMCR on clinically meaningful parameters of the ocular surface. METHODS: In adult patients, tear break-up time, lipid layer thickness, and osmolarity were measured via direct observation, interferometry, and impedance measurements before surgery and 3 months after surgery in patients who underwent MMCR. Statistical analysis was performed via a dedicated software package. RESULTS: Fifteen eyes of 14 patients were included in the study. Mean pre- and postoperative tear break-up times were 12.71 ± 2.20 and 12.43 ± 2.41 seconds, respectively (p = 0.1648). Preoperatively, the mean lipid layer thickness measurement was 91.00 ± 7.02 nm, whereas the mean postoperative value was 88.86 ± 21.36 nm (p = 0.6613). The mean preoperative tear osmolarity measured 291.4 ± 8.86 mOsm/l, and the mean postoperative measurement was 289.86 ± 9.74 mOsm/l (p = 0.2652). CONCLUSIONS: MMCR does not appear to change clinically meaningful ocular surface disease parameters, and postoperative dryness did not result from this procedure. In appropriately selected patients, MMCR can be safely performed without increased concerns regarding postoperative dry eye disease.

Silicone oil migration into the orbit.

PURPOSE: To report a case in of intravitreal silicone oil migration into the inferior orbit. Silicone oil tamponade is commonly used in retinal detachment repair and extrusion into the orbital tissues is very rare. METHODS: A 70-year-old male with a remote history of repair of a right ruptured globe and retinal detachment surgery presented with progressive right lower eyelid edema. There was a known history of intravitreal silicone oil instillation and removal. An elective right inferior orbitotomy with excisional biopsy was performed. RESULTS: Histopathology confirmed the presence of silicone oil intermixed with necrotic fat. The patient had excellent cosmetic and functional outcome. CONCLUSION: The presence of silicone oil within the orbital fat may be a result of increased intraocular pressure and extrusion through presumably water-tight sclerotomy sites.