scholarly journals Crystalline Lens Resorption Caused by Ciliary Body Melanoma

2020 ◽  
Vol 13 (2) ◽  
pp. 497-500
Author(s):  
William M. Carrera ◽  
Matthew R. Denny ◽  
Michael I. Seider
Keyword(s):  
Genetic Testing ◽  
Early Detection ◽  
Ciliary Body ◽  
Crystalline Lens ◽  
Pathogenic Mutation ◽  
Posterior Subcapsular Cataract ◽  
Epithelioid Cells ◽  
The Right ◽  
Caucasian Female ◽  
Ciliary Body Melanoma

We report a case of a 51-year-old Caucasian female who presented with a ciliary body melanoma of the right eye leading to focal resorption of the crystalline lens and inducing posterior subcapsular cataract. She underwent successful enucleation, and histopathology demonstrated a ciliary body melanoma with a predominance of epithelioid cells and focal scleral extension. Genetic testing revealed a heterozygous, pathogenic mutation of BAP1 (c.1717delC, p.Leu573fs). Crystalline lens resorption is a rare but potentially important finding in ciliary body melanoma, as early detection of malignancy can be lifesaving.

Diverse phenotype of hypokalaemic periodic paralysis within a family

2017 ◽  
Vol 18 (1) ◽  
pp. 60-65 ◽  
Author(s):  
Albi Jose Chalissery ◽  
Tudor Munteanu ◽  
Yvonne Langan ◽  
Francesca Brett ◽  
Janice Redmond
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Calcium Ion ◽  
Late Onset ◽  
Pathogenic Mutation ◽  
Periodic Paralysis ◽  
Initial Work ◽  
The Right ◽  
Work Up ◽  
Hypokalaemic Periodic Paralysis

Hypokalaemic periodic paralysis typically presents with intermittent mild-to-moderate weakness lasting hours to days. We report a case with an uncommon phenotype of late-onset myopathy without episodic paralytic attacks. Initial work-up including muscle biopsy was inconclusive. A subsequent review of the right deltoid biopsy, long exercise testing and repeated family history was helpful, followed by appropriate genetic testing. We identified a heterozygous pathogenic mutation in calcium ion channel (CACNA1S:c.1583G>A p.Arg528His) causing hypokalaemic periodic paralysis. Myopathy can present without episodic paralysis and the frequency of paralytic episodes does not correlate well with the development and progression of a fixed myopathy. Our report also highlights the intrafamilial phenotypic variation of hypokalaemic periodic paralysis secondary to a CACNA1S gene mutation.

scholarly journals Unusual presentation of ciliary body melanoma - a case report

2014 ◽  
Vol 11 (3) ◽  
pp. 287-289
Author(s):  
T Sarbajna ◽  
P Lavaju ◽  
M Agarwal ◽  
K Ahmad
Keyword(s):  
Case Report ◽  
Lacrimal Gland ◽  
Ciliary Body ◽  
Histopathological Examination ◽  
Temporal Region ◽  
Direct Extension ◽  
Tender Mass ◽  
Temporal Quadrant ◽  
The Right ◽  
Ciliary Body Melanoma

Background: Ciliary body melanoma rarely grows transclerally by direct extension and can metastasize locally into the orbit or conjunctiva. Objective: To report a case of ciliary body melanoma presenting clinically as a mass in the lacrimal gland region. Case: A 40-year-old female presented to the ophthalmic out-patient department with the complaint of a swelling in the right upper and outer lid region for 4 years. Ocular examination revealed a phthisical right eye. A firm, non-tender mass was palpable in the temporal quadrant of the right supraorbital region. Ultrasonography showed retinal detachment of the right eye. The CT-scan of the orbit was reportedly suggestive of a right lacrimal gland mass. Superolateral transperiosteal orbitotomy was planned for excision of the lacrimal gland mass. Intraoperatively, a well defined mass arising from the supero-temporal region of the right globe was noticed. The procedure was converted to enucleation of the right eye. Histopathological examination of the mass showed features of ciliary body melanoma. Conclusion: Extrascleral extension of ciliary body melanoma can present as a mass in the lacrimal gland region. DOI: http://dx.doi.org/10.3126/hren.v11i3.9657 Health Renaissance 2013;11(3):287-289

scholarly journals Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa

2021 ◽  
Vol 22 (5) ◽  
pp. 2374
Author(s):  
Laura Kuehlewein ◽  
Ditta Zobor ◽  
Katarina Stingl ◽  
Melanie Kempf ◽  
Fadi Nasser ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Genetic Testing ◽  
Retinitis Pigmentosa ◽  
Fundus Autofluorescence ◽  
Retinal Disease ◽  
New Drugs ◽  
Autofluorescence Imaging ◽  
Full Field ◽  
Tertiary Referral Center ◽  
The Right

In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in the PDE6B gene. Patients underwent clinical examination and genetic testing at a single tertiary referral center, including best-corrected visual acuity (BCVA), kinetic visual field (VF), full-field electroretinography, full-field stimulus threshold, spectral domain optical coherence tomography, and fundus autofluorescence imaging. The genetic testing comprised candidate gene sequencing, inherited retinal disease gene panel sequencing, whole-genome sequencing, and testing for familial variants by Sanger sequencing. Twenty-four patients with mutations in PDE6B from 21 families were included in the study (mean age at the first visit: 32.1 ± 13.5 years). The majority of variants were putative splicing defects (8/23) and missense (7/23) mutations. Seventy-nine percent (38/48) of eyes had no visual acuity impairment at the first visit. Visual acuity impairment was mild in 4% (2/48), moderate in 13% (6/48), and severe in 4% (2/48). BCVA was symmetrical in the right and left eyes. The kinetic VF measurements were highly symmetrical in the right and left eyes, as was the horizontal ellipsoid zone (EZ) width. Regarding the genetic findings, 43% of the PDE6B variants found in our patients were novel. Thus, this study contributed substantially to the PDE6B mutation spectrum. The visual acuity impairment was mild in 83% of eyes, providing a window of opportunity for investigational new drugs. The EZ width was reduced in all patients and was highly symmetric between the eyes, making it a promising outcome measure. We expect these findings to have implications on the design of future PDE6B-related retinitis pigmentosa (RP) clinical trials.

scholarly journals Adult gonococcal keratoconjunctivitis: early detection is key

2020 ◽  
Vol 17 (1) ◽  
pp. 30-34
Author(s):  
Daniel Lai ◽  
Keith Ong
Keyword(s):  
Polymerase Chain Reaction ◽  
Early Detection ◽  
Neisseria Gonorrhoeae ◽  
Ophthalmic Solution ◽  
Careful Monitoring ◽  
Corneal Ulceration ◽  
Chain Reaction ◽  
Bacterial Conjunctivitis ◽  
Polymerase Chain ◽  
The Right

We describe a case of a 52-year-old male presenting with severe mucopurulent conjunctivitis of the right eye. Corneal ulceration and associated anterior chamber activity was noted later in the course of the disease. Neisseria gonorrhoeae was positive on polymerase chain reaction (PCR) testing earlier than traditional microscopy and culture. He was successfully treated with ceftriaxone 500 mg intravenously and azithromycin 1 g orally as single doses in addition to ofloxacin ophthalmic solution 0.3% hourly to the right eye. This case highlights the need to consider the possibility of gonococcus in cases of suspected bacterial conjunctivitis, careful monitoring for corneal involvement and the importance of early detection with PCR.

scholarly journals Visual Acuity, Contrast Sensitivity and Color Vision Three Years After Iodine-125 Brachytherapy for Choroidal and Ciliary Body Melanoma

2015 ◽  
Vol 9 (1) ◽  
pp. 131-135 ◽  
Author(s):  
Irena Tsui ◽  
Robert M Beardsley ◽  
Tara A McCannel ◽  
Scott C Oliver ◽  
Melissa W Chun ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Contrast Sensitivity ◽  
Color Vision ◽  
Ciliary Body ◽  
Case Series ◽  
Vision Measurement ◽  
Corrected Visual Acuity ◽  
Iodine 125 ◽  
Decrease In Visual Acuity ◽  
Ciliary Body Melanoma

Purpose : To report visual acuity, contrast sensitivity and color vision prior to, 1 year after, 2 years after and 3 years after iodine-125 brachytherapy for choroidal and ciliary body melanoma (CCM). Design : Prospective interventional case series. Participants : Thirty-seven patients (37 eyes) with CCM. Methods : Patients had best-corrected Early Treatment Diabetic Retinopathy Study (ETDRS) visual acuity, Pelli-Robson contrast sensitivity and Hardy-Rand-Rittler color vision measurement; comprehensive ophthalmology examination; optical coherence tomography; and ultrasonography at baseline prior to, 1 year after, 2 years after and 3 years after I-125 brachytherapy. Main Outcome Measures : Visual acuity, contrast sensitivity and color vision prior to, 1 year after, 2 years after and 3 years after brachytherapy. Results : Nineteen (19) men and 18 women with mean age of 58 years (SD 13, range 30-78) prior to, 1 year after, 2 years after and 3 years after brachytherapy had mean best-corrected visual acuity of 77 letters (20/32), 65 letters (20/50), 56 letters (20/80) and 47 letters (20/125); contrast sensitivity of 30, 26, 22 and 19 letters; color vision of 26, 20, 17 and 14 test figures, respectively. Decrease in visual acuity, contrast sensitivity and color vision was statistically significant from baseline at 1 year, 2 years, and 3 years after brachytherapy. Decreased acuity at 3 years was associated with mid-choroid and macula melanoma location, ≥ 4.1 mm melanoma height, radiation maculopathy and radiation optic neuropathy. Conclusion : 1, 2 and 3 years after brachytherapy, eyes with CCM had significantly decreased visual acuity, contrast sensitivity and color vision.

scholarly journals MRI-Based Normative Measurement of the Ocular Globe Position in Relation to Inter-Zygomatic Line among Nepalese Subjects

2021 ◽  
Vol 8 (8) ◽  
Author(s):  
Raj JB ◽  
Keyword(s):  
Early Detection ◽  
Posterior Margin ◽  
Anterior Margin ◽  
Systemic Diseases ◽  
Major Consequence ◽  
Imaging Parameter ◽  
Tertiary Center ◽  
Significant Difference ◽  
The Right ◽  
Gender Groups

Introduction: Proptosis and enophthalmos are cardinal signs of many orbito-ocular and systemic diseases. The need for an imaging parameter that will aid its early detection is necessary, as visual compromise is a major consequence if they are not diagnosed and managed early. Methodology: This prospective study was performed in a tertiary center. Data were collected over the period of January to April 2021 with total of 300 normal ocular globes. The measurement was done at the level of lens (midglobe section) on T2-weighted axial image. Results: The distance between the anterior margin and inter zygomatic line of the right ocular globe was 16.95 ± 1.48 mm (ranged 14.2 - 20.5 mm) and that of left was 16.86 ± 1.38 mm (ranged 14.2 - 20.3 mm). The position of the globes showed no statistically significant differences among gender groups in our study and the position of the right globe within the orbit was significantly different from that of the left orbit. Conclusion: The position of the globes showed higher values in males than in female. However, a statistically significant difference in globe position was observed between right and left orbits. The distance between the posterior margin of the globe and the inter zygomatic line was found to be lower among the Nepalese population compared with other population.

scholarly journals Analytical Review of Major Nocturnal Pests’ Detection Technique using Computer Vision

2018 ◽  
Vol 11 (3) ◽  
pp. 179-182
Author(s):  
Deven J. Patel ◽  
Nirav Bhatt
Keyword(s):  
Computer Vision ◽  
Early Detection ◽  
Review Article ◽  
Pink Bollworm ◽  
Detection Technique ◽  
Future Research ◽  
White Grub ◽  
Analytical Review ◽  
Pest Detection ◽  
The Right

Research in agriculture is increasing quality and quantity, but pest reduces it. To prevent the effect of these pests, insecticides are used. But excessive use of pesticides is very harmful to production and environment. So initially pest detection is necessary. We work on nocturnal pests because that can be easily attracting using night trapping tools. The purpose of this review article is to analyse the popular techniques and find the right technique for the initial diagnosis and early detection of major nocturnal flying pests like Pink Bollworm, White Grub, Helicoverpa and Spodoptera. The importance of early detection can be in identifying and classifying the pests in a digital view. We have concluded our results with the various methods and the prospects of future research.

scholarly journals The use of infrared thermography for welfare assessment during the application of ear tags to lambs

2017 ◽  
Vol 60 (3) ◽  
pp. 297-302 ◽  
Author(s):  
Murat Karakuş ◽  
Ferda Karakuş
Keyword(s):  
Early Detection ◽  
Infrared Thermography ◽  
Behavioral Responses ◽  
Infrared Images ◽  
Thermal Camera ◽  
Inflammatory Reactions ◽  
Welfare Assessment ◽  
The Mean ◽  
The Right

Abstract. The aim of this study was to determine the effect of metal-tipped, plastic-tipped, and electronic ear tags on the likelihood of infection using infrared thermography and to evaluate the effect on welfare by examining the behavioral responses of the lambs. Ninety lambs with an average age of 6 months were used in this study. Before the application of the ear tags, infrared images of the right and left ears of the lambs were taken with the thermal camera and the infrared temperatures were recorded. Measurements were repeated on days 1, 4, 10, and 30 after the ear tag application. The mean of infrared ear temperatures on days 0, 1, 4, 10, and 30 were found to be 14.60, 23.20, 23.77, 20.36, and 17.61 °C for the metal-tipped ear tag group; 15.69, 21.50, 20.42, 18.00, and 16.39 °C for the plastic-tipped ear tag group; and 15.17, 29.47, 27.49, 25.93, and 20.61 °C for the electronic ear tag group. The infrared temperatures on days 1, 4, and 10 in the control and experimental groups were significantly different from each other (P < 0.001). The plastic-tipped ear tags caused fewer problems and are preferred to the traditional ear tags with metal tips. The electronic ear tags caused more inflammatory reactions compared to metal- or plastic-tipped ear tags. The infrared thermography method may be used as a useful tool in the early detection of the inflammatory reactions and infections caused by the application of ear tags.

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