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Custom Ampliseq Targeted Sequencing Panel for Orphan Pediatric Retinal Diseases
Kenneth P. Mitton, Wendelin Dailey, Gabrielle Abdelmessih, Rima Stepanian, Andrew Santos, Daeun Jeong, Mary Drekh, Lance Jones, Konstantinos Koustas, and Antonio Capone Jr.
Publication Date: 6-4-2024
Among the entire group of inherited retinal degenerations (IRDs), some genetic conditions are even more rare than retinitis pigmentosa. Two categories that impact the retinal vasculature and retinal layer adhesion are very rare. Familial Exudative Vitreo-Retinopathy (FEVR), Norrie Disease (ND), and Persistent Fetal Vascular Syndrome (PFVS) are caused by variants in several genes required for the normal function of retinal vascular endothelial cells. These include Frizzled-4 (FZD4), Norrin (or Norrie Disease Protein, NDP), Tetra-Spanin-12 (TSPAN-12), beta-Catenin (CTNNB1), Zinc-Finger. 408 (ZNF-408), and Kinesin-11 (KIF-11). Loss of functional Retinoschisis protein (RS1) causes X-linked Retinoschisis (XLRS) with the formation of liquid-filled separations between the inner and outer nuclear layers of the neural retina. To facilitate greater access to genetic testing for these conditions in the United States where this testing is not supported by health insurance, and potentially to benefit the adoption of more economical genetic testing in less developed economies, we developed a custom-targeted panel to sequence these eight genes at a very low cost compared to previous testing methods. Using Illumina Ampliseq panel design, and the iSeq-100 sequencing system, any collaboration of a basic science lab and an ophthalmology clinic can sequence test these eight genes completely in-house without the need to rely upon access to large DNA-sequencing providers.
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Philosophical Considerations in Pediatric Vitreoretinal Surgery
Antonio Capone Jr
Publication Date: 6-2023
This book provides practical information on how to approach pediatric retinal diseases especially with respect to surgical indications and decisions as well as tips and key points for surgical techniques. Clear and concise chapters highlight pearls, pitfalls and related basic knowledge elements which are supported by video clips to provide a unique reference.
Pediatric Vitreoretinal Surgery is an essential guide for ophthalmologists, ophthalmology residents, vitreoretinal fellows and practicing vitreoretinal surgeons seeking a key resource to support their daily practice for pediatric retinal diseases.
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Pars Planitis in Children
Lisa J. Faia
Publication Date: 6-2023
This book provides practical information on how to approach pediatric retinal diseases especially with respect to surgical indications and decisions as well as tips and key points for surgical techniques. Clear and concise chapters highlight pearls, pitfalls and related basic knowledge elements which are supported by video clips to provide a unique reference.
Pediatric Vitreoretinal Surgery is an essential guide for ophthalmologists, ophthalmology residents, vitreoretinal fellows and practicing vitreoretinal surgeons seeking a key resource to support their daily practice for pediatric retinal diseases.
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Genetics of Retinopathy of Prematurity from the Point of a Surgical Approach
Matthew GJ Trese and Kimberly A. Drenser
Publication Date: 6-2023
This book provides practical information on how to approach pediatric retinal diseases especially with respect to surgical indications and decisions as well as tips and key points for surgical techniques. Clear and concise chapters highlight pearls, pitfalls and related basic knowledge elements which are supported by video clips to provide a unique reference.
Pediatric Vitreoretinal Surgery is an essential guide for ophthalmologists, ophthalmology residents, vitreoretinal fellows and practicing vitreoretinal surgeons seeking a key resource to support their daily practice for pediatric retinal diseases.
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Surgical Decision Making in Pediatric Retinal Diseases
Matthew GJ Trese, Michael T. Trese, and Antonio Capone Jr
Publication Date: 6-2023
This book provides practical information on how to approach pediatric retinal diseases especially with respect to surgical indications and decisions as well as tips and key points for surgical techniques. Clear and concise chapters highlight pearls, pitfalls and related basic knowledge elements which are supported by video clips to provide a unique reference.
Pediatric Vitreoretinal Surgery is an essential guide for ophthalmologists, ophthalmology residents, vitreoretinal fellows and practicing vitreoretinal surgeons seeking a key resource to support their daily practice for pediatric retinal diseases.
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Ultrasound of Orbit Tumors and Tumorlike Lesions
Bernadete Ayres and Alon Kahana
Publication Date: 2022
Ultrasound is a noninvasive, first-line imaging method for orbital disease, providing accurate detection and tissue differentiation of orbital and periorbital pathologies. The dynamic nature of the exam allows to establish the kinetic characteristics of the lesions such as its consistency and vascularity. Moreover, ultrasound is a nonionizing, cost-effective, and readily available imaging technique. However, it requires a high level of expertise to perform and interpret.
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Orbital CT
Denise S. Kim, Remy R. Lobo, and Alon Kahana
Publication Date: 2022
Computed tomography (CT) is a noninvasive, diagnostic imaging modality with high spatial resolution. It is rapid, amenable to claustrophobic patients, and provides excellent examination of bone anatomy with adequate soft tissue evaluation.
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Orbital CTA/CTV
Denise S. Kim, Remy R. Lobo, and Alon Kahana
Publication Date: 2022
Computed tomography angiography (CTA) and venography (CTV) provide a noninvasive approach to evaluating arterial and venous blood flow in the characterization of normal and abnormal tissue vascular beds. The use of these imaging modalities has become more powerful over the years, providing not only outstanding resolution of vascular channels but also concomitant assessment of surrounding human tissue. An understanding of these modalities and their utility can improve patient care.
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Orbital MRA/MRV
Denise S. Kim, Remy R. Lobo, and Alon Kahana
Publication Date: 2022
Magnetic resonance angiography (MRA) and magnetic resonance venography (MRV) enable noninvasive imaging of vascular structures without using ionizing radiation. Pulse sequences are constructed to generate signal from blood flow by taking advantage of variable magnetic relaxation properties and magnetic susceptibilities. MRA/MRV in conjunction with MRI offer excellent soft tissue detail while utilizing vascular characteristics to help identify different lesions. Both sequences can be performed either with or without contrast.
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Peripheral Nerve Sheath Tumors of the Orbit
Anaïs Carniciu, Alon Kahana, and Leonard A. Levin
Publication Date: 2021
Peripheral nerve sheath tumors (PNSTs) are neoplasms that arise from peripheral nerves or demonstrate nerve sheath differentiation. They usually present with proptosis and sometimes with severe periocular deformities. Benign PNST subtypes, including schwannomas and neurofibromas, are more common than rare malignant forms and are known to occur in the orbit and ocular adnexa. PNSTs comprise approximately 4% of all orbital tumors.
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Eyelid and Periocular Cutaneous Carcinomas
Taylor R. Erickson, Curtis J. Heisel, Christopher K. Bichakjian, and Alon Kahana
Publication Date: 2021
Cutaneous malignancies frequently manifest in the periocular region and are most commonly associated with ultraviolet radiation. Basal cell carcinoma is the most prevalent, comprising 85–95% of all eyelid malignancies. Cutaneous squamous cell carcinoma is second most common, representing 3.4–12.6% of eyelid malignancies. Sebaceous carcinoma and melanoma represent less than 1% of eyelid carcinomas. Rarer presentations of periorbital cutaneous malignancies include Merkel cell carcinoma, microcystic adnexal carcinoma, angiosarcoma, various lymphomas, and undifferentiated pleomorphic sarcoma. Timely diagnosis and treatment of periorbital cutaneous malignancies is imperative due to their propensity to invade local structures and their potential spread along branches of the trigeminal, facial, or oculomotor nerves, sometimes into the brain. The standard of care for localized eyelid carcinomas is surgical excision with negative margin confirmation. High-risk keratinocyte carcinomas are most commonly treated with Mohs micrographic surgery (MMS), which facilitates margin control with minimal collateral damage to normal tissue. This is especially useful in the aesthetically and functionally sensitive region of the eyelid. Other therapies include standard elliptical excision, cryotherapy, curettage and electrodesiccation (C&E), topical therapies, radiation, chemotherapy (both broad and targeted), and immunotherapy. This chapter reviews the diagnosis and treatment of periocular cutaneous malignancies.
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Instrumentation in Ophthalmic Plastic Surgery
Shani Golan, Christopher I. Zoumalan, Frank A. Nesi, and Gary J. Lelli Jr
Publication Date: 2021
The use of proper instrumentation in ophthalmic plastic surgery is an essential element to successful surgical outcomes. However, the surgeon must be aware that without proper adherence to the basic surgical principles, surgical outcomes will be suboptimal. The surgeon must have an intimate knowledge of the eyelid, orbital, and facial anatomy. Furthermore, an understanding of the anatomy and the natural tissue planes allows the surgeon to surgically dissect the tissue planes as atraumatically as possible with the aid of appropriate and adequate instrumentation.
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Smith and Nesi’s Ophthalmic Plastic and Reconstructive Surgery
J Javier Servat, Evan H. Black, Frank A. Nesi, Geoffrey J. Gladstone, and Christopher J. Calvano
Publication Date: 2021
This landmark book is the most extensive and complete oculofacial plastic surgery guide available in the market. Updated and broadened from the three previous editions, it includes advances in the use of surgical navigation systems, and new techniques and treatments for diseases involving the eyelid, orbital and lacrimal system.
Organized across 11 sections of in-depth, expertly written text, Smith and Nesi’s Ophthalmic Plastic and Reconstructive Surgery, Fourth Edition has taken the best of the field’s classic reference text and expanded upon it. Detailed chapters cover a multitude of topics relating to various ocular surgeries, pediatric considerations, ocular traumas, and anatomy.
Supplemented with a myriad of high-quality illustrations, Smith and Nesi’s Ophthalmic Plastic and Reconstructive Surgery, Fourth Edition is an indispensable reference for oculoplastics surgeons and physicians in other fields.
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Textbook of Ocular Trauma Evaluation and Treatment
Mark A. Rolain
Publication Date: 12-7-2017
Arranged by ocular anatomy and subspecialty, with a detailed index permitting the reader to locate a discussion involving a specific type of ocular injury, this text covers ocular trauma in the pediatric and adult patient with medical and surgical treatment options, as well as potential complications. The Textbook of Ocular Trauma: Evaluation and Treatmentprovides a practical reference and educational resource for ophthalmologists, ophthalmology residents, emergency room physicians and residents, and pediatric physicians and residents, with basic and advanced instruction in the evaluation and management of eye and surrounding tissue trauma.
This text includes multiple case reports with high quality color photographs after each section, as well as detailed medical illustrations of trauma cases and their treatment. Case studies include both common and unusual types of ocular and surrounding tissue trauma, which provide practical guidance in the evaluation and treatment of eye injuries.
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