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PURPOSE: The aim of this study was to report a novel PRDM5 pathologic variant and ophthalmic findings in a family with 3 children diagnosed with brittle cornea syndrome (BCS). Histopathologic findings and surgical outcome of a child with BCS who underwent full-thickness corneal transplant are described. METHODS: This is an observational case report of a nonconsanguineous Laotian family with 3 siblings diagnosed with BCS. Data collected included visual acuity, cycloplegic refraction, slit-lamp biomicroscopy, dilated fundus examination, corneal pachymetry, corneal topography, and general medical findings. Targeted testing through PRDM5 gene sequencing with copy number variation detection was conducted. RESULTS: The 3 siblings included a 12-year-old boy and 8- and 6-year-old sisters, all of whom presented with myopia, blue-tinted sclerae, thin corneas, and variable corneal scarring. All 3 affected children were found to be homozygous for the PRDM5 gene variant c.1117_1123delinsTTTAATGCTTACAAATGTTTG p.Asp373Phefs*57. Coding sequences of PRDM5 and ZNF469 genes were sequenced in their entirety, and this was the only pathologic variant present in this family. The youngest affected sister developed persistent hydrops with severely decreased vision and underwent penetrating keratoplasty. Histopathology revealed severe corneal thinning, diffuse absence of Bowman layer, and ruptured Descemet membrane scrolls. CONCLUSIONS: Three siblings with clinical signs of BCS, including corneal thinning, myopia, and blue sclerae, were found to have a novel PRDM5 gene pathologic variant. This pathologic variant has not been previously reported, although 1 downstream nonsense pathologic variant has been reported as pathogenic. The similar phenotypes in all affected patients support the pathogenicity of this variant. Surgical management of BCS presents unique challenges due to severe tissue fragility.
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Miopia , Anormalidades da Pele , Masculino , Criança , Humanos , Variações do Número de Cópias de DNA , Mutação , Anormalidades da Pele/genética , Córnea , Proteínas de Ligação a DNA/genética , Fatores de Transcrição/genéticaRESUMO
Alkali injuries are ocular emergencies that require immediate evaluation and therapy to preserve vision. Severe alkali injuries can result in long-term vision-threatening sequelae including symblepharon, corneal ulceration, corneal scarring, limbal stem cell deficiency, xerophthalmia, cicatricial changes of the eyelid and adnexa, glaucoma, uveitis, and permanent vision loss. Treatment is aimed at neutralizing the pH, controlling inflammation, and restoring the ocular surface. Here, we present the case of a 35-year-old male who sustained direct ocular exposure to sodium hydroxide, resulting in significant corneal and conjunctival epithelial defects despite aggressive initial medical therapy. The patient subsequently received a large, externally sutured amniotic membrane (AM) with a customized symblepharon ring to promote healing. The corneal and conjunctival defects resolved, and at 4 months after the initial injury, the patient's visual acuity had improved to 20/25. Clinicians should be aware of the various surgical techniques to place an AM transplantation and identify the best strategy based on clinical findings and the extent and severity of the injury.
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Vision impairment continues to be a major global problem, as the WHO estimates 2.2 billion people struggling with vision loss or blindness. One billion of these cases, however, can be prevented by expanding diagnostic capabilities. Direct global healthcare costs associated with these conditions totaled $255 billion in 2010, with a rapid upward projection to $294 billion in 2020. Accordingly, WHO proposed 2030 targets to enhance integration and patient-centered vision care by expanding refractive error and cataract worldwide coverage. Due to the limitations in cost and portability of adapted vision screening models, there is a clear need for new, more accessible vision testing tools in vision care. This comparative, systematic review highlights the need for new ophthalmic equipment and approaches while looking at existing and emerging technologies that could expand the capacity for disease identification and access to diagnostic tools. Specifically, the review focuses on portable hardware- and software-centered strategies that can be deployed in remote locations for detection of ophthalmic conditions and refractive error. Advancements in portable hardware, automated software screening tools, and big data-centric analytics, including machine learning, may provide an avenue for improving ophthalmic healthcare.
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PURPOSE: Despite increasing numbers of women oculoplastic surgeons, they remain underrepresented within the subspecialty. The purpose of this study was to analyze trends in gender authorship within the field of ophthalmic plastic and reconstructive surgery. METHODS: This retrospective observational study sampled articles published in Ophthalmic Plastic and Reconstructive Surgery (OPRS) and Orbit during the years 1985, 1995, 2005, 2015, and 2020. Data reviewed included article type, total number of authors, and the gender of each article's first and senior author. RESULTS: Nine hundred ninety-nine articles were analyzed, including 701 in OPRS and 298 in Orbit. Of 3,716 total authors, 1,151 (31%) were women, including 297 (29.7%) first authors, and 191 (21.5%) senior authors. Women authorship in OPRS in 1985 (first, 3.9%; senior, 3.3%; all, 3.2%) significantly increased by 2020 (first, 44.6%; senior, 27.9%; all, 42%). Women authorship in Orbit in 1985 (first, 0%; senior, 4.5%; all, 7.4%) also significantly increased by 2020 (first, 43.3%; senior, 34%; all, 42.9%). In a subanalysis of OPRS original investigations alone, women first authorship increased from 3.1% in 1985 to 35.8% in 2020 (p < 0.001) and women senior authorship increased from 4.3% in 1985 to 25% in 2020 (p = 0.001). In a subanalysis of Orbit original investigations alone, women first authorship increased from 0% in 1985 to 65.4% in 2020 (p < 0.001) and women senior authorship increased from 5.3% in 1985 to 42.3% in 2020 (p < 0.001). CONCLUSIONS: Despite a significant increase in women authorship over the past several decades, women remain underrepresented within the oculoplastic literature, particularly in regard to senior authorship. When considering original investigations alone, there has been a significant increase in women first and senior authorship in both OPRS and Orbit.
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Oftalmologistas , Procedimentos de Cirurgia Plástica , Cirurgiões , Autoria , Feminino , Humanos , Processamento de Imagem Assistida por Computador , MasculinoRESUMO
BACKGROUND: The purpose of this case series was to further characterize proteasome inhibitor associated chalazia and blepharitis, to investigate outcomes of different management strategies, and to propose a treatment algorithm for eyelid complications in this patient population. METHODS: This retrospective case series included sixteen patients found to have chalazia and/or blepharitis while receiving proteasome inhibitors for plasma cell disorders at Mount Sinai Hospital in New York, NY from January 2010 through January 2017. Main outcomes were complete resolution of eyelid complications and time to resolution. Student's t-test was used to compare average values and Fisher's exact test was used to compare proportions. RESULTS: Fourteen patients had chalazia and 10 had blepharitis. Chalazia averaged 5.4 mm, and 11 patients with chalazia experienced two or more lesions. Median follow-up time was 17 months. Average time from bortezomib exposure to onset of first eyelid complication was 3.4 months. Chalazia episodes were more likely to completely resolve than blepharitis episodes (p = 0.03). Ocular therapy alone was trialed for an average of 1.8 months before proceeding to bortezomib omission. Average time to eyelid complication resolution using ocular therapy alone was 1.8 months versus 3.1 months after bortezomib omission. In this series, the combination of ocular therapy and bortezomib omission led to complete resolution of eyelid complications more often than ocular therapy alone. CONCLUSION: Proteasome inhibitor associated eyelid complications were identified in sixteen patients with plasma cell disorders. Eyelid complications may be treated with a 2-month trial of conservative ocular therapies alone, followed by continuation of ocular therapy in combination with bortezomib omission if eyelid signs persist.
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Blefarite/induzido quimicamente , Bortezomib/efeitos adversos , Calázio/induzido quimicamente , Inibidores de Proteassoma/efeitos adversos , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias de Plasmócitos/tratamento farmacológico , Estudos RetrospectivosRESUMO
PURPOSE: To review the clinical features of orbital and choroidal metastases from urothelial carcinomas of the urinary tract among cases reported in the literature, and to describe a case of orbital metastasis from bladder cancer presenting as apparent internuclear ophthalmoplegia. METHODS: Case reports of orbital and choroidal metastases from urothelial carcinomas published in the literature from 1965 to 2018 were reviewed. Data collected included patient demographics, cancer stage and primary site, time to onset of ocular symptoms, length of presenting ocular symptoms, types of primary ocular symptoms, diagnostic imaging, histology, systemic and ocular treatments, and survival time. RESULTS: Twenty-eight cases of urothelial carcinoma with metastasis to the orbit or choroid were reviewed. Men were significantly more likely to suffer from this condition than women (p = 0.011). The average age of presentation with orbital symptoms was 63 years, with an average time of 19 months between primary cancer diagnosis and onset of orbital symptoms. Twenty-two patients had metastasis to the orbit and 6 to the choroid. In 4 cases, ocular deficits secondary to orbital and/or choroidal metastases were the initial presenting symptoms in patients with previously undiagnosed urothelial carcinoma. The most commonly noted primary ocular symptoms and signs consisted of decreased visual acuity, decreased ocular motility, proptosis, and diplopia. Average survival from onset of ocular symptoms was 4.67 months. CONCLUSIONS: Urothelial carcinoma may metastasize to the orbit or choroid; furthermore, its presentation may mimic internuclear ophthalmoplegia. It is recommended that any patient with visual symptoms and known urothelial cancer should undergo expedited workup for metastatic disease.
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Carcinoma de Células de Transição/secundário , Estadiamento de Neoplasias , Órbita/diagnóstico por imagem , Neoplasias Orbitárias/secundário , Neoplasias Urológicas/patologia , Biópsia , Carcinoma de Células de Transição/diagnóstico , Humanos , Neoplasias Orbitárias/diagnóstico , Tomografia Computadorizada por Raios XRESUMO
Infertility associated with obesity is characterized by abnormal hormone release from reproductive tissues in the hypothalamus, pituitary, and ovary. These tissues maintain insulin sensitivity upon peripheral insulin resistance. Insulin receptor signaling may play a role in the dysregulation of gonadotropin-releasing hormone (GnRH) secretion in obesity, but the interdependence of hormone secretion in the reproductive axis and the multi-hormone and tissue dysfunction in obesity hinders investigations of putative contributing factors to the disrupted GnRH secretion. To determine the role of GnRH insulin receptor signaling in the dysregulation of GnRH secretion in obesity, we created murine models of diet-induced obesity (DIO) with and without intact insulin signaling in the GnRH neuron. Obese control female mice were infertile with higher luteinizing hormone levels and higher GnRH pulse amplitude and total pulsatile secretion compared to lean control mice. In contrast, DIO mice with a GnRH specific knockout of insulin receptor had improved fertility, luteinizing hormone levels approaching lean mice, and GnRH pulse amplitude and total secretion similar to lean mice. Pituitary responsiveness was similar between genotypes. These results suggest that in the obese state, insulin receptor signaling in GnRH neurons increases GnRH pulsatile secretion and consequent LH secretion, contributing to reproductive dysfunction.