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Snowflake Vitreoretinal Degeneration


Presentation

  • Vitreal changes may thus present as an early stage when hardly any retinal pathology is apparent. Peripheral retinal neovascularization was seen in four patients.[ncbi.nlm.nih.gov]
  • The mutation in KCNJ13, the gene encoding Kir7.1, was not present in unaffected family members and 210 control individuals.[ncbi.nlm.nih.gov]
  • After a brief introduction to the clinical anatomy of the peripheral retina, the appearance of the fundus as a function of skin color and aging is presented.[books.google.com]
  • Acronym SVD Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • The Vitreous and Vitreoretinal Interface, with contributions by vitreoretinal surgeons and laboratory eye researchers, presents the most up-to-date clinically relevant data.[books.google.de]
Collapse
  • The retinal periphery no longer looked elevated, but rather as if its once elevated surface had collapsed or become thinner.[dokument.tips]
Rigor
  • Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity.[blueprintgenetics.com]
Turkish
  • […] images (English) translate from translate to List of Terms Translation Images Abbreviations & acronyms Comments Synonyms [DE] German [EN] English [F] French [ES] Spanish [I] Italian [NL] Dutch [POR] Portuguese [HR] Croatian [RUS] Russian [GR] Greek [TÜR] Turkish[zeitzfrankozeitz.de]
Corneal Opacity
  • One had massive prereti-nal retraction and cataract (11-11); the other, with a history of two unsuccessful retinal detachment operations, had glaucoma and corneal opacities that made fundus examination impossible (II-5, R E ) .[dokument.tips]
Suggestibility
  • The absence of coding sequence variation in the only collagen gene within the disease-region, suggests a novel pathogenesis for vitreoretinal degeneration.[ncbi.nlm.nih.gov]
  • These findings and the exclusion of known genetic loci suggest snowflake is a distinct vitreoretinal degeneration.[ncbi.nlm.nih.gov]
  • Homology modeling based on the structure of a bacterial Kir channel protein suggested that the effect of R162W mutation is a result of loss of hydrogen bonding by the regulatory lipid binding domain of the cytoplasmic structure.[ncbi.nlm.nih.gov]
Withdrawn
  • Name Vitreoretinal Degeneration, Snowflake Type Synonyms SNOWFLAKE VITREORETINAL DEGENERATION Classification eye, genetic Phenotypes Autosomal dominant inheritance ; Cataract ; Optically empty vitreous ; Vitreoretinopathy Associated Genes KCNJ13 (Withdrawn[mousephenotype.org]

Treatment

  • Because of the poor surgical prognosis in such cases, prophylactic treatment with argon laser photocoagulation is recommended for any type of retinal break.[ncbi.nlm.nih.gov]
  • Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice.[books.google.com]
  • Treatment Treatment Options: Visually significant cataracts may be removed. Patients need to be observed throughout life to enable prompt intervention when retinal detachments occur. References[disorders.eyes.arizona.edu]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Treatment - Snowflake vitreoretinal degeneration Not supplied. Resources - Snowflake vitreoretinal degeneration Not supplied.[checkorphan.org]

Prognosis

  • Because of the poor surgical prognosis in such cases, prophylactic treatment with argon laser photocoagulation is recommended for any type of retinal break.[ncbi.nlm.nih.gov]
  • Diagnosis - Snowflake vitreoretinal degeneration Home medical testing related to Snowflake vitreoretinal degeneration: Vision & Eye Health: Home Testing: Home Eye Tests Home Vision Tests Prognosis - Snowflake vitreoretinal degeneration Not supplied.[checkorphan.org]
  • Ethereality has been cryptographically misknowed snowflake vitreoretinal degeneration prognosis for multiple myeloma against the gytha. Conspiratorially jugular coralee dishonorably folds. Liquids were a heretics.[glazeq.perme.ru]
  • […] to reduce risks of retinal detachment in symptomatic lattice degeneration. [ citation needed ] There are documented cases wherein retina detached from areas which were otherwise healthy despite being treated previously with laser. [ citation needed ] Prognosis[en.wikipedia.org]
  • […] efficacy of peripheral cryopexy for prevention of blindness and retinal detachment in the most common inherited vitreoretinopathy (Stickler syndrome type I, STL1) makes accurate diagnosis of relatives a key part of the management plan. 2 The dismal prognosis[nature.com]

Etiology

  • Many of the diseases of the peripheral retina can be divided into trophic (nutritional), tractional, and a combination of trophic plus tractional etiologies.[books.google.com]
  • This project will expand on her previous Meriter-funded project exploring the role of hyperoxia on the etiology of bronchopulmanary dysplasia (BPD) a chronic lung disease (CLD) associated with pre-term infants.[pediatrics.wisc.edu]
  • Management upon retinal consult of vitrous hemorrage A plethora of options based on the etiology Wait for clearance Laser photocoagulation Cryopexy Intravitreal anti-VEGF agents Pars plana vitrectomy Scleral buckle And don't forget to check forneovasculation[quizlet.com]
  • CEP164 Nephronophthisis CEP250 recessive Usher syndrome CEP290/BBS14 Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndrome CERKL Retinitis pigmentosa CFH age-related macular degeneration, complex etiology[molecularvisionlab.com]

Epidemiology

  • Relevant External Links for KCNJ13 Genetic Association Database (GAD) KCNJ13 Human Genome Epidemiology (HuGE) Navigator KCNJ13 Atlas of Genetics and Cytogenetics in Oncology and Haematology: KCNJ13 No data available for Genatlas for KCNJ13 Gene Partial[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • Offers the most comprehensive content available on retina , balancing the latest scientific research and clinical correlations, covering everything you need to know on retinal diagnosis, treatment, development, structure, function, and pathophysiology[books.google.com]
  • Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any[books.google.com]
  • This talk will discuss on the clinical manifestations and pathophysiology of SVD and LCA. The discussion will focus more on the molecular mechanisms (structure and biology) of Kir7.1 genetic mutations.[omicsonline.org]
  • Pathophysiology and management Sequence variants in versican ( CSPG2 ) have been reported for the original Wagner family, a Japanese family, three Dutch families, and a British family. 32, 37, 38, 39 These sequence variants occurred at or near the 3′-[nature.com]
  • The pathophysiology consists of areas of retinal pigment epithelial and choroicapillaris atrophy and loss followed by subsequent adherence of the thinned retina to the choroid. (7) Thus, the presentation can be dramatic as the sclera is partially visible[thefreelibrary.com]

Prevention

  • A small percentage of these patients develop retinal breaks that can be treated with laser to prevent retinal detachment. These patients should be followed up with a dilated examination on a yearly basis. Posted by Dr.[sonorandeserteye.blogspot.com]
  • Prevention - Snowflake vitreoretinal degeneration Not supplied.[checkorphan.org]
  • Currently there is no prevention or cure for lattice degeneration. [ citation needed ] References [ edit ] External links [ edit ][en.wikipedia.org]
  • Cryotherapy may be a necessary alternative in cases in which significant hemorrhage prevents laser administration.[emedicine.medscape.com]
  • Pattnaik’s future focus is on the basic understanding of the cellular basis of potassium and chloride channel function in the retina as tools to diagnose disease so as to develop its prevention.[retinaresearchfnd.org]

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