Orbital and conjunctival nontuberculous mycobacteria infection.

A 64-year-old female developed refractory red-eye with itching and watery discharge 2 weeks after being injured by a comb in the left eye. It presented as diffuse pinkish thickening of the bulbar conjunctiva. Biopsy and histological examinations revealed granulomatous inflammation with microgranuloma. Acid-fast-positive bacilli were found within the tissue, which was identified by culture 5 weeks later as Mycobacterium Abscessus. The orbital computed tomography with contrast medium showed irregular enhancement with an ill-defined margin along the inferior sclera. Due to symptomatic and recurrent bulbar conjunctival thickening and abscess-like lesion formations, wide excision of the conjunctival and orbital granuloma with amniotic membrane transplantation was performed twice. Conjunctiva inflammation subsided after the surgical treatment was combined with 4 months of topical and parenteral antimycobacterial treatment. The presentation, diagnosis, and treatment of ocular nontuberculous mycobacterial (NTM) infection will be discussed in this article. NTM can cause infections of all adnexal and ocular tissues in patients with ocular trauma or surgical history. The pathological findings were granulomatous inflammation without true caseating. Periocular cutaneous, adnexal, and orbital NTM infections remain rare and require surgical debridement and long-term parenteral antibiotic therapy.

Polymorphisms in steroidogenesis genes, sex steroid levels, and high myopia in the Taiwanese population.

PURPOSE: To evaluate the relationship among single nucleotide polymorphisms (SNPs) in steroidogenesis enzyme genes, serum levels of sex steroids, and high myopia in Taiwanese male and female populations. METHODS: A campus-based sample of 283 cases (145 males and 138 females) with high myopia and 280 controls (144 males and 136 females) with low myopia or emmetropia was studied. Estradiol, progesterone, and testosterone levels were determined using enzyme-linked immunosorbent assay kits. We genotyped six SNPs within five steroidogenesis enzyme genes (17 alpha-hydroxylase/17,20 lyase [CYP17A1], 3 beta-hydroxysteroid dehydrogenase [HSD3B1], 17 beta-hydroxysteroid dehydrogenase 1 [HSD17B1], steroid-5-alpha-reductase, alpha polypeptide 2 [SRD5A2], and aromatase [CYP19A1]) using polymerase chain reaction-restriction fragment length polymorphism methods. Student's t-tests, χ(2) tests, logistic regression, multifactor dimensionality reduction (MDR) methods, and ANOVA were used to determine significance. RESULTS: An MDR analysis corroborated the synergistic genotype association and demonstrated that synergistic interaction between rs6203 (HSD3B1), rs10046 (CYP19A1), and sex might confer susceptibility to high myopia (p=0.019). In both male and female subjects, levels of testosterone were significantly higher in cases than in controls; in male subjects, the levels of estradiol were significantly higher and those of progesterone were significantly lower in cases (all p-values <0.001). The rs605059 (HSD17B1), with sex-gene interaction, showed association with estradiol levels in males (p=0.035) and testosterone levels in females (p=0.027). CONCLUSIONS: Testosterone levels correlate with high myopia, and interaction of steroidogenesis enzyme genes and sex may be a modulating factor in sex hormone metabolism and high-myopia risk.

Dermis-fat graft as treatment of early implant exposure in a postpenetrating keratoplasty patient with nontraumatic eyeball rupture.

Orbital implant exposure may be the most common complication after evisceration surgery with orbital implantation. Management of implant exposure is a vital issue for oculoplastic surgeons. We present the case of a patient with nontraumatic eyeball rupture receiving dermis-fat graft after early implant exposure. The present case with multiple penetrating keratoplasty history underwent emergent evisceration and silicon sphere implantation due to nontraumatic eyeball rupture with severe uvea prolapse. The surrounding corneal tissue of the rupture aperture was almost unidentified before the operation. Deep superior sulcus syndrome and orbital implant exposure developed 2 months after the operation; hence, orbital reconstruction and dermis-fat graft transplantation were performed. Orbital reconstruction and orbital implant exposure management are discussed in the content.

The association of haplotype at the lumican gene with high myopia susceptibility in Taiwanese patients.

OBJECTIVE: To investigate the association of genetic polymorphisms in the dermatan sulfate proteoglycan 3 (DSPG3), lumican (LUM), and decorin (DCN) genes (component genes of the sclera) with high myopia susceptibility in Taiwanese people. DESIGN: Prospective case-control study. PARTICIPANTS: Hospital clinic-based samples of 120 unrelated patients with extremely high myopia were studied. One hundred thirty-seven unrelated emmetropic individuals served as controls. METHODS: Four, 8, and 4 single nucleotide polymorphism (SNPs) were genotyped within the DSPG3, lumican, and decorin genes, respectively, using direct DNA sequencing. Pairwise linkage disequilibrium, haplotype analysis, adjusted logistic regression, and multifactor dimensionality reduction (MDR) methods were used to determine significant associations. MAIN OUTCOME MEASURES: The association of haplotypes at the lumican gene with high myopia development. RESULTS: The lumican gene SNP rs3759223:T-->C demonstrated a significant association with high myopia (P = 2.83 x 10(-4)). Four lumican SNPs showed significant linkage disequilibrium and formed a haplotype block. Sliding window haplotype analyses revealed that the block consisting of rs3759223 and rs3741834 showed significant goodness of fit (global P = 1.0725 x 10(-6)). Haplotype-specific tests showed that the C-C and T-C haplotypes were associated significantly with high myopia, with odds ratios (95% confidence intervals) of 19.32 (2.55-146.54) and 0.69 (0.46-1.04), respectively. rs3759223 and rs3741834 are in a putative regulatory element of the lumican gene, which influences fibrillogenesis of scleral collagen fibers and the development of myopia. The results of an MDR analysis corroborated the single-locus association and suggested a significant 2-locus interaction model composed of SNPs rs2300588 and rs3741834 in the lumican gene. CONCLUSIONS: Genetic variation in the regulatory domains of the lumican gene, where both rs3759223 and rs3741834 are located, are associated with high myopia susceptibility among the Han Chinese, making this region worthy of further investigation.

The association of membrane frizzled-related protein (MFRP) gene with acute angle-closure glaucoma--a pilot study.

PURPOSE: The membrane frizzled-related protein (MFRP) has been proposed as a probable candidate gene for extreme hyperopia and nanophthalmos, which are factors for angle-closure glaucoma. The purpose of our study was to investigate whether there are significant associations between angle-closure glaucoma and sequence variants in the MFRP gene reported previously in Taiwanese subjects. METHODS: Genomic DNA was collected from 63 subjects with angle-closure glaucoma and 66 age-matched and gender-matched controls without angle-closure glaucoma. Three sequence variants were detected by polymerase chain reaction (PCR) and direct sequencing in all of the cases and controls. RESULTS: None of the three sequence variants showed a significant result in terms of association with disease. The pairwise linkage disequilibrium (LD) mapping confirmed that these alleles have a comparatively strong LD index greater than 0.7 for D' and greater than 0.4 for r(2) at these polymorphisms. However, we found there were no statistical associations between any of the three sequence variants located on MFRP and angle-closure glaucoma. CONCLUSIONS: In our pilot study, variations that we tested in MFRP were not associated with the development of acute angle-closure glaucoma in Taiwanese subjects.

Risk of skin cancer in patients with pterygium: a nationwide population-based cohort study in Taiwan.

This study investigated the association between pterygium and skin cancer linking to ultraviolet (UV) radiation using claims data from 1997-2010, obtained from the Taiwan National Health Insurance Research Database. The study included 19,701 patients with pterygium and 78,804 sex- and age-frequency-matched comparison subjects. Multivariate Cox regression analyses were performed to assess the relationship between pterygium and risk of skin cancer by the end of 2010. The incidence rates of malignant melanoma (MM) and nonmelanoma skin cancer (NMSC) in two cohorts and adjusted hazard ratios (HRs) with 95% confidence intervals (CIs) of the diseases were measured. Results showed that the incidences of MM and NMSC were both higher in the pterygium cohort than in the comparison cohort (5.5 vs 3.2 and 32.3 vs 15.0 per 100,000 person years, respectively). After adjusting for age, sex, UV index, occupation, and the other comorbidities, pterygium remained a significant predictor of NMSC (hazard ratio [HR], 1.64; 95% confidence interval [CI], 1.11-2.42), but not MM (HR, 1.46; 95% CI, 0.59-3.65). These results suggest that pterygium patients are associated with an increased risk of NMSC, but not significant for MM.

Atypical Rosai-Dorfman disease with lacrimal gland involvement.

PURPOSE: Rosai-Dorfman disease is a rare, benign, idiopathic histocytic proliferative disorder that typically presents in young adults with painless cervical lymphadenopathy. Here we report an atypical case of Rosai-Dorfman disease involving orbit tissue and lacrimal gland, unilaterally. CASE: A 69-year-old Asian women developed a painless palpable mass with local edema over the left upper eyelid over several months. Computed tomography (CT) showed an orbital mass with homogenous soft tissue density over the left lacrimal gland and superior orbital area. The patient underwent complete excision of the orbital tumor. OBSERVATIONS: The histopathology revealed diffuse and nodular infiltrations of S-100 positive histiocytes, plasma cells and lymphocytes. Emperipolesis (lymphocytophagocytosis) was also noted. These findings were consistent with Rosai-Dorfman disease. Chest CT revealed hilar lymphadenopathy. Three months after excision of the orbital mass, the patient developed lymphadenopathy in the extremities that resolved spontaneously over a few weeks. There were no complications or recurrence without systemic treatment after the complete excision. CONCLUSIONS: Orbital Rosai-Dorfman disease is a rare disorder, especially in Asia. Though there is no consensus on therapeutic choices, including corticosteroids, chemotherapy, radiation therapy, and surgical excision, the complete surgical excision performed in this case was without complication and had a favorable outcome.