A Case of Fabry Disease With Lacrimal Gland Involvement.

Fabry disease is an X-linked lysosomal storage disease resulting from an error in the glycosphingolipid metabolic pathway, which leads to accumulation of globotriaosylceramide in lysosomes of the skin, kidneys, heart, brain, and other organs. There are no existing reports of histologically proven lacrimal gland involvement in Fabry disease. The authors report the case of a 26-year-old male with Fabry disease who presented with bilateral upper eyelid dermatochalasis, steatoblepharon, and prolapsed lacrimal glands. The patient underwent surgical repair of the upper eyelids and biopsy of the lacrimal glands. The pathologic assessment demonstrated lamellated intracytoplasmic inclusions characteristic of Fabry disease. The prevalence of globotriaosylceramide lacrimal gland deposition in Fabry disease and the effect on lacrimal gland morphology and function have yet to be determined.

Assault-related Orbital Trauma at an Urban Level I Trauma Center: Racial Segregation and Other Neighborhood-level Social Determinants.

PURPOSE: To report the demographics of assault-related orbital fractures over a 7-year period treated at a level I urban trauma center, as well as describe and analyze the variation in assault rates across different racial/ethnic neighborhoods for patients residing in Milwaukee County. METHODS: A retrospective chart review was conducted for patients who sustained assault-related orbital fractures from January 1, 2013, through December 31, 2019, at the Froedtert & Medical College of Wisconsin, in Milwaukee, Wisconsin. A series of negative binomial regression models evaluating the association of neighborhood (i.e., US census tract) racial/ethnic composition, poverty, unemployment, percentage female head-of-household, and education level with neighborhood rate of orbital trauma was conducted. RESULTS: A total of 410 adult patients with orbital fractures attributed to assault were identified during the seven-year period, of whom 326 (80%) resided in Milwaukee County. Among these patients, 242 (74%) were male, 260 (81%) were single, and 206 (63%) were non-Hispanic Black. Majority non-Hispanic Black, Hispanic, and Other-type minority neighborhoods have 5.30, 3.35, and 3.94 times higher incidence rates of orbital assault, respectively, compared with the majority of non-Hispanic White neighborhoods. The elevated incidence rates were significantly attenuated across all minority neighborhoods after accounting for neighborhood factors of poverty, unemployment, and low education level. Low education had the strongest association with the incidence of assault-related orbital fractures, followed by unemployment. CONCLUSIONS: Results indicate that minority neighborhoods suffer from compounded burdens of both social and economic disadvantage as well as violent assaults. Additional resources allocated to poor minority communities are needed.

Torpedo Maculopathy: A Systematic Review of Case Reports.

BACKGROUND AND OBJECTIVE: Torpedo maculopathy (TM) is a rare macular lesion involving the retinal pigment epithelium (RPE). This paper describes a retrospective case report of TM. In addition, the authors present a comprehensive systematic review of 110 cases found in the literature. PATIENTS AND METHODS: A search for the term "torpedo maculopathy" was conducted on PubMed, Embase, and Web of Science databases and yielded 62 relevant studies. RESULTS: The majority of cases in the literature, including this case, reported an asymptomatic hypopigmented temporal lesion with occasional satellite lesions. Fluorescein angiography generally revealed hypofluorescence, whereas optical coherence tomography demonstrated RPE thinning as well as choroid hyperreflectivity. CONCLUSIONS: This is the largest systematic review of torpedo maculopathy to date. The authors' findings confirm that it is a benign, nonprogressive, predominantly unilateral temporal lesion thought to arise during macular development. [Ophthalmic Surg Lasers Imaging Retina. 2021;52:78-83.].

An Update on Endocrine Mucin-producing Sweat Gland Carcinoma: Clinicopathologic Study of 63 Cases and Comparative Analysis.

Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a rare, low-grade adnexal neoplasm with predilection for the periorbital skin of older women. Histologically and immunophenotypically, EMPSGC is analogous to another neoplasm with neuroendocrine differentiation, solid papillary carcinoma of the breast. Both lesions are spatially associated with neuroendocrine mucinous adenocarcinomas of the skin and breast, respectively. EMPSGC is ostensibly a precursor of neuroendocrine-type mucinous sweat gland adenocarcinoma (MSC), a lesion of uncertain prognosis. Non-neuroendocrine MSC has been deemed locally aggressive with metastatic potential, and previous works speculated that EMPSGC-associated (neuroendocrine-type) MSC had similar recurrence and metastatic potential with implications for patient follow-up. Only 96 cases of EMPSGC have been reported (12 cases in the largest case series). Herein, we present 63 cases diagnosed as "EMPSGC" in comparison with aggregated results from known published EMPSGC cases. We aim to clarify the clinicopathologic features and prognostic significance of the neuroendocrine differentiation of EMPSGC and its associated adenocarcinoma and to determine the nosological relevance of EMPSGC association in the spectrum of MSC histopathogenesis. Results established an overall female predominance (66.7%) and average presenting age of 64 years. EMPSGC lesions were associated with adjacent MSC in 33.3% of cases. The recurrence rate for neuroendocrine-type MSC was ~21%, less than the reported 30% for non-neuroendocrine MSC. There were no cases of metastasis. EMPSGC and neuroendocrine-type MSC are distinct entities with more indolent behavior than previously reported, supporting a favorable prognosis for patients.

Bilateral Chondroid Metaplasia of Conjunctiva Associated With Monoclonal Gammopathy of Undetermined Significance.

PURPOSE: To describe a case of a patient with bilateral proliferation of chondrocytes of the lower palpebral conjunctiva. METHODS: Observational case report and review of relevant literature. RESULTS: Conjunctival biopsy from an 83-year-old man with bilateral acquired lower conjunctival nodules revealed a benign proliferation of chondrocytes. A general medical evaluation revealed serum monoclonal gammopathy with light-chain proteinuria. CONCLUSIONS: Bilateral-acquired benign chondrocyte tumefactions of the palpebral conjunctiva have not been previously reported. This initiated a search for a biologically plausible explanation. The findings in this report support that these proliferations represent chondroid metaplasia related to light-chain deposition. The diagnosis requires exclusion of other forms of chondrocyte proliferation including well-differentiated chondrosarcoma.

IgG4-rich reactive lymphoid hyperplasia of the lacrimal gland.

We describe an otherwise healthy 24-year-old woman with reactive lymphoid hyperplasia of one lacrimal gland. She was found to have modest elevation of serum IgG4 and high density of IgG4+ plasma cells in her lacrimal gland, ranging from 40% to 60% of IgG+ plasma cells. The patient transiently responded to systemic corticosteroids before treatment with rituximab. IgG4-rich reactive lymphoid hyperplasia of the lacrimal gland is neither an established part of IgG4-related disease spectrum nor a known precursor lesion to lymphoma. Although there is a plausible risk of transforming to IgG4-related disease or to lymphoma, the biological potential and natural history of IgG4-rich reactive lymphoid hyperplasia remains to be determined.

Inflammatory Reaction to Decellularized Porcine-Derived Xenograft for Lower Eyelid Retraction.

A 54-year-old woman underwent uncomplicated bilateral lower eyelid surgery for eyelid retraction using porcine decellularized membrane graft (TarSys). Left lower eyelid pain began several months after surgery and persisted until the graft was removed 15 months after implantation. The opposite eyelid graft caused no symptoms. Histologically, the lesion consisted of acellular collagen surrounded by florid granulomatous inflammation. Although the inflammatory reaction suggested a cell-mediated immune response, this pathway of injury is difficult to reconcile given the asymptomatic opposite eyelid. The literature reflects limited experience with porcine decellularized membranes of the eyelid. Complications and long-term tolerance remain to be determined.

Corneal Edema Associated With Systemic Dopaminergic Agents.

PURPOSE: To describe the development and resolution of corneal edema in 3 patients who were exposed to compounds that stimulate dopaminergic pathways. METHODS: We conducted a review of the literature on bilateral corneal edema secondary to amantadine use and report a case series of corneal edema seen in an outpatient ophthalmology specialty clinic, shortly after exposure to agents that enhance dopamine transmission. RESULTS: Cases 1 and 2 report a 25-year-old man with attention-deficit hyperactivity disorder and a 73-year-old man with Parkinson disease who were placed on dopaminergic medications to treat their conditions. The former was administered methylphenidate and the latter patient was administered ropinirole. Both patients developed corneal edema soon afterward. Case 3 is a 67-year-old man with a recent exposure to resin from Euphorbia resinifera, a cactus in his garden. After cessation of the offending medications and treatment for exposure to resiniferatoxin, the corneal edema progressively resolved and visual acuity returned to baseline in all 3 cases. CONCLUSIONS: Methylphenidate, ropinirole, and resiniferatoxin have different mechanisms of actions but have a common end point leading to increased dopamine. We believe that these agents are linked with the reversible corneal edema seen in our 3 patients. This strongly correlates with previous studies that have linked amantadine, a drug that blocks dopamine reuptake, to reversible corneal edema.

Effect of 2 Novel Sustained-release Drug Release Systems on Bleb Fibrosis: An In Vivo Trabeculectomy Study in a Rabbit Model.

PRECIS: Rabbit model studies suggested better morphology blebs with equal intraocular pressure (IOP) efficacy as a standard mitomycin C (MMC) trabeculectomy using a novel slow-release drug delivery antifibrotic system delivering small quantities of MMC and 5-fluorouracil (5-FU). PURPOSE: To evaluate 2 different concentrations of biodegradable poly(lactic-co-glycolic acid) (PLGA) system with 5-FU and MMC (ElutiGLASS) for their ability to reduce fibrosis and compare the results with standard trabeculectomy with MMC in a rabbit model. MATERIALS AND METHODS: New Zealand albino rabbits (19) were divided into 3 groups (A, B, C) and standard trabeculectomy operation was performed in the right eye of each rabbit.Group (A) had trabeculectomy with MMC (0.4 mg/mL) applied using a Weck cell sponge; (B) trabeculectomy with slow-release ElutiGLASS (0.23 mg, 5-FU/0.33 µg MMC released over 23 to 30 d); (C) trabeculectomy with rapid release ElutiGLASS (0.45 mg of 5-FU/0.65 µg MMC, released over 5 to 7 d). The rabbits were followed for 3 months before euthanasia. RESULTS: Bleb morphology, vascularity, and fibrosis were less pronounced in groups B and C when compared with group A at 3 months. Group B appears to have a lower and more diffuse bleb appearance compared with the other 2 groups with honeycomb appearance on both clinical examination and ultrasound biomicroscopy imaging with higher percentage of maintained bleb space (83%), less fibrosis than group A while maintaining the same low inflammation score as the other 2 groups on histology. At 3 months, the PLGA polymer had completely disappeared in all rabbits. There were no statistical differences in the degree of IOP reduction or histologic inflammation, among the 3 groups. CONCLUSIONS: We successfully created a sustained-release antifibrotic drug delivery system that delivered known dosage of the drugs at doses that are significantly lower than the current standard, and resulted in less fibrosis while maintaining a healthy bleb and equal reduction of IOP. TRANSLATIONAL RELEVANCE: These results are supportive of the antifibrotic effect of the slow-release drug delivery system used in conjunction with trabeculectomy, thus paving the way for human pilot studies to improve and simplify existing surgical techniques for filtering surgeries in glaucoma.

Melanoma of the eyelid and periocular skin: Histopathologic classification and molecular pathology.

Cutaneous melanoma, a potentially lethal malignancy of the periocular skin, represents only a small proportion of the roughly 87,000 new cases of cutaneous melanoma diagnosed annually in the United States. Most of our understanding of melanoma of the eyelid skin is extrapolated from studies of cutaneous melanoma located elsewhere. Recent years have witnessed major breakthroughs in molecular biology and genomics of cutaneous melanoma, some of which have led to the development of targeted therapies. The molecular insights have also kindled interest in rethinking how cutaneous melanomas are classified and assessed for risk. We provide a synopsis of the epidemiology, histopathologic classification, and clinical experience of eyelid melanoma since 1990 and then review major advances in the molecular biology of cutaneous melanoma, exploring how this impacts our understanding of classification and predicting risk.

Bariatric surgery and its impact on pseudotumor cerebri: A case report.

PURPOSE: Pseudotumor cerebri is a debilitating condition that causes severe headaches and progressive visual field loss. In this report, we present a patient with Class III obesity, with pseudotumor cerebri who failed medical management and attempted weight loss via diet and exercise. OBSERVATIONS: After undergoing bariatric surgery, the patient had significant weight loss and improvement of visual field defects. CONCLUSION AND IMPORTANCE: These results suggest that bariatric surgery may be an effective option for patients with rapidly progressing visual loss due to pseudotumor cerebri.

Detection of Helicosporidium spp. in metagenomic DNA.

Distinct isolates of the invertebrate pathogenic alga Helicosporidium sp., collected from different insect hosts and different geographic locations, were processed to sequence the 18S rDNA and ß-tubulin genes. The sequences were analyzed to assess genetic variation within the genus Helicosporidium and to design Helicosporidium-specific 18S rDNA primers. The specificity of these primers was demonstrated by testing not only on the Helicosporidium sp. isolates, but also on two trebouxiophyte algae known to be close Helicosporidium relatives, Prototheca wickerhamii and Prototheca zopfii. The genus-specific primers were used to develop a culture-independent assay aimed at detecting the presence of Helicosporidium spp. in environmental waters. The assay was based on the PCR amplification of 18SrDNA gene fragments from metagenomic DNA preparations, and it resulted in the amplification of detectable products for all sampled sites. Phylogenetic analyses that included the environmental sequences demonstrated that all amplification products clustered in a strongly supported, monophyletic Helicosporidium clade, thereby validating the metagenomic approach and the taxonomic origin of the produced environmental sequences. In addition, the phylogenetic analyses established that Helicosporidium spp. isolated from coleopteran hosts are more closely related to each other than they are to the isolate collected from a dipteran host. Finally, the phylogenetic trees depicted intergeneric relationships that supported a Helicosporidium-Prototheca cluster but did not support a Helicosporidium-Coccomyxa grouping, suggesting that pathogenicity to invertebrates evolved at least twice independently within the trebouxiophyte green algae.