Calcinosis Cutis at the Tarsus of the Upper Eyelid

Calcinosis cutis involves the inappropriate deposition of calcium within the dermis layer of the skin, and is often associated with rheumatoid disease. A 42-year-old woman presented for evaluation of a hard palpable mass on the left upper eyelid. After everting the eyelid, a large papillomatous mass with a broad base was identified on the superior area of the tarsus. The lesion was partially excised posteriorly under local anesthesia, and pathologists identified the mass as calcinosis cutis. The patient had no systemic or trauma history, and the serum levels of calcium and phosphorous were normal. Idiopathic calcinosis cutis should be included in the differential diagnosis for a protruding papillomatous mass of the tarsal plate, and surgical debulking could be a viable option for large protruding lesions, although more follow-up is necessary to monitor regrowth

A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy

Citation: Lee CS, Jun I, Choi S, et al. A novel BEST1 mutation in autosomal recessive bestrophinopathy. Invest Ophthalmol Vis Sci. 2015;56:8141-8150. DOI:10.1167/iovs.15-18168 PURPOSE. To describe the clinical characteristics associated with a newly identified mutant of autosomal recessive bestrophinopathy (ARB) and confirm the associated physiological functional defects. METHODS. Two patients with ARB from one family underwent a full ophthalmic examination, including dilated fundus examination, fundus photography, fluorescein angiography, fundus autofluorescence imaging, spectral-domain optical coherence tomography (OCT), electroretinography (ERG), and electrooculography (EOG). Subsequently, genetic analysis for bestrophin-1 (BEST1) mutations was conducted through direct Sanger sequencing. The effect of ARB-associated mutations of BEST1 on the cellular localization was determined by in vitro experiments. Whole-cell patch clamping was conducted to measure the chloride conductance of wild-type BEST1 and the identified BEST1 mutants in transfected HEK293T cells. RESULTS. Two related patients (66-year-old brother and 52-year-old sister) presented with reduced visual acuity and bilateral symmetrical subretinal deposits of hyperautofluorescent materials in the posterior pole. Spectral-domain OCT showed macular thinning with submacular fluid. The female patient had a concomitant macular edema associated with branched retinal vein occlusion in the left eye, which responded well to intravitreal bevacizumab injections. Genetic analysis demonstrated that both patients were compound heterozygous for one novel (Leu40Pro) and one previously identified (Ala195Val) BEST1 variant. HEK293T cells transfected with the identified BEST1 mutant showed significantly small currents compared to those transfected with the wild-type gene, whereas cells cotransfected with mutant and wild-type BEST1 showed good chloride conductance. Cellular localization of BEST1 was well conserved to the plasma membrane in the mutants. CONCLUSIONS. We have identified and described the phenotype and in vitro functional aspects of a new BEST1 mutation causing ARB. Clinically suspected ARB cases warrant genetic confirmation to confirm the diagnosis

Prediction accuracy of conventional and total keratometry for intraocular lens power calculation in femtosecond laser-assisted cataract surgery

Abstract This study evaluated the accuracy of total keratometry (TK) and standard keratometry (K) for intraocular lens (IOL) power calculation in eyes treated with femtosecond laser-assisted cataract surgery. The retrospective study included a retrospective analysis of data from 62 patients (91 eyes) who underwent uneventful femtosecond laser-assisted cataract surgery with Artis PL E (Cristalens Industrie, Lannion, France) IOL implantation by a single surgeon between May 2020 and December 2020 in Severance Hospital, Seoul, South Korea. The new IOLMaster 700 biometry device (Carl Zeiss Meditec, Jena, Germany) was used to calculate TK and K. The mean absolute error (MAE), median absolute error (MedAE), and the percentages of eyes within prediction errors of ± 0.25 D, ± 0.50 D, and ± 1.00 D were calculated for all IOL formulas (SRK/T, Hoffer-Q, Haigis, Holladay 1, Holladay 2, and Barrett Universal II). There was strong agreement between K and TK (intraclass correlation coefficient = 0.99), with a mean difference of 0.04 D. For all formulas, MAE tended to be lower for TK than for K, and relatively lower MAE and MedAE values were observed for SRK/T and Holladay 1. Furthermore, for all formulas, a greater proportion of eyes fell within ± 0.25 D of the predicted postoperative spherical equivalent range in the TK group than in the K group. However, differences in MAEs, MedAEs, and percentages of eyes within the above prediction errors were not statistically significant. In conclusion, TK and K exhibit comparable performance for refractive prediction in eyes undergoing femtosecond laser-assisted cataract surgery

Activation of ADRB2/PKA Signaling Pathway Facilitates Lipid Synthesis in Meibocytes, and Beta-Blocker Glaucoma Drug Impedes PKA-Induced Lipid Synthesis by Inhibiting ADRB2

Meibomian gland dysfunction is one of the main causes of dry eye disease and has limited therapeutic options. In this study, we investigated the biological function of the beta 2-adrenergic receptor (ADRB2)/protein kinase A (PKA) pathway in lipid synthesis and its underlying mechanisms in human meibomian gland epithelial cells (HMGECs). HMGECs were cultured in differentiation media with or without forskolin (an activator of adenylate cyclase), salbutamol (an ADRB2 agonist), or timolol (an ADRB2 antagonist) for up to 4 days. The phosphorylation of the cAMP-response element-binding protein (CREB) and the expression of peroxisome proliferator activator receptor (PPAR)γ and sterol regulatory element-binding protein (SREBP)-1 were measured by immunoblotting and quantitative PCR. Lipid synthesis was examined by LipidTOX immunostaining, AdipoRed assay, and Oil Red O staining. PKA pathway activation enhanced PPARγ expression and lipid synthesis in differentiated HMGECs. When treated with agonists of ADBR2 (upstream of the PKA signaling system), PPARγ expression and lipid synthesis were enhanced in HMGECs. The ADRB2 antagonist timolol showed the opposite effect. The activation of the ADRB2/PKA signaling pathway enhances lipid synthesis in HMGECs. These results provide a potential mechanism and therapeutic target for meibomian gland dysfunction, particularly in cases induced by beta-blocker glaucoma drugs

Comparison of Treatment Modalities for Dry Eye in Primary Sjögren’s Syndrome

Purpose: To evaluate the effectiveness of different treatment modalities for dry eye in primary Sjögren’s syndrome with their potential overlapping influences. Methods: This study included 199 patients with newly diagnosed primary Sjögren’s syndrome from 2005 to 2020. Various treatment modalities for primary Sjögren’s syndrome were compared. Improvement of corneal staining based on Sjögren’s International Collaborative Clinical Alliance (SICCA) scores was the primary outcome. Results: The average follow-up period was 5.4 ± 3.1 (range, 2.0–14.1) years. Analysis of the individual treatments showed that punctal plug insertions in the lower and upper eyelids were strongly associated with improvement of SICCA scores (β = 2.70 and 1.80, p p p = 0.003, 0.003, and <0.001, respectively). Conclusions: Punctal plug insertion, primarily targeting aqueous deficiency, is the mainstay of the treatment for dry eye in primary Sjögren’s syndrome even in the presence of ocular surface inflammation. Furthermore, the effectiveness of treatment modalities for dry eye in primary Sjögren’s syndrome was dependent on the presence of ocular surface inflammation

Novel Recessive Mutations in SLC38A8 Causing Infantile onset Nystagmus with Foveal Hypoplasia

Foveal hypoplasia is a developmental eye disorder, often associated with aniridia, ocular albinism or retinopathy of prematurity. We report a rare case of a patient with nystagmus and foveal hypoplasia caused by autosomal recessive SLC38A8 (OMIM: 615585) mutations

Comparison of the Predictive Accuracy of Intraocular Lens Power Calculations after Phototherapeutic Keratectomy in Granular Corneal Dystrophy Type 2

Granular corneal dystrophy type 2 (GCD2) is an autosomal dominant disease affecting vision. Phototherapeutic keratectomy (PTK) is advantageous in removing vision-threatening corneal opacities and postponing keratoplasty; however, it potentially disturbs accurate intraocular lens (IOL) power calculation in cataract surgery. The myopic/hyperopic Haigis-L method with or without the central island has been reported; nevertheless, an optimal method has not yet been established. To compare the predictive accuracy of post-PTK IOL power calculations in GCD2, the retrospective data of 30 eyes from July 2017 to December 2020 were analyzed. All GCD2-affected eyes underwent post-PTK standard cataract surgery using the WaveLight EX500 platform (Alcon Laboratories, Inc., Fort Worth, TX, USA) under a single surgeon. The mean prediction error (MPE) and absolute error (MAE) with the myopic/hyperopic Haigis-L, Barrett Universal II, Barrett True-K, Haigis, and SRK/T by standard keratometry (K) and total keratometry (TK), where possible, were analyzed. Barrett Universal II and SRK/T showed significantly superior MPE, and MAE compared with the myopic/hyperopic Haigis-L method. TK was not significantly superior to K in the same formula. In conclusion, this study suggests that these biometries and formulas, especially Barrett Universal II and SRK/T, are potentially useful in IOL power calculation in GCD2 after PTK