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Late-Onset Retinal Degeneration

LORD


Presentation

  • All four patients presented in their 50s with nyctalopia and developed central visual loss in their 60s. Peripupillary iris atrophy and long anterior zonular insertions were present in three of four patients.[ncbi.nlm.nih.gov]
Retinal Pigmentation
  • During follow-up, these affected areas developed confluent thickening of the retinal pigment epithelial layer and disruption of the ellipsoid zone of photoreceptors before progressing to overt retinal pigment epithelium and outer retinal atrophy.[ncbi.nlm.nih.gov]
  • Late-onset retinal degeneration caused by C1QTNF5 mutation: sub-retinal pigment epithelium deposits and visual consequences. JAMA ophthalmology, 132 (10), 1252-5.[research.ed.ac.uk]
  • pigment epithelium deposits, retinal function, and photoreceptor degeneration.[genome.jp]
Withdrawn
  • AUTOSOMAL DOMINANT Classification eye, genetic Phenotypes Adult-onset night blindness ; Autosomal dominant inheritance ; Blindness ; Retinal degeneration ; Retinopathy ; Rod-cone dystrophy ; Scotoma ; Sub-RPE deposits ; Visual loss Associated Genes C1QTNF5 (Withdrawn[mousephenotype.org]

Treatment

  • New antivascular endothelial growth factor treatment may provide a new possibility for management. A deeper insight into molecular and genetic mechanisms of L-ORMD may suggest avenues to explore new treatments of this disorder.[bjo.bmj.com]
  • 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]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • 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]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

Prognosis

  • Prognosis - there is no progression.[patient.info]
  • At the end stage of the disease, only a reduced amplitude, delayed cone ERG is detectable. 1 There is some evidence that the early dark adaptation abnormalities are partially responsive to vitamin A therapy 2 but how this affects the poor long-term prognosis[nature.com]
  • The aim is to better understand the long-term prognosis (outcomes) of the condition and to work out the underlying mechanism of the disease.[newcastle-hospitals.org.uk]
  • Kidney disease has an onset in the first decade and its progression often defines the survival prognosis. Renal transplantation can be lifesaving when nephronophthisis develops. Psychomotor delays have been reported but are uncommon.[disorders.eyes.arizona.edu]
  • ナビゲーションシステム 荒井 宏幸 (みなとみらいアイクリニック) 白内障手術におけるナビゲーションシステム 柴 琢也 (東京慈恵医大) ナビゲーションシステムを用いた網膜手術 國方 彦志 (東北大) シンポジウム 12 4月20日(金)9:00 10:30 World Update of Infectious Keratitis from Basic to Clinic オーガナイザー 井上 幸次 (鳥取大) 外園 千恵 (京都府医大) Analysis of Risk Factors Related to Prognosis[convention.jtbcom.co.jp]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Edamoto Y(Unit of Molecular Pathology, International Agency for Research on Cancer, France) Int J Cancer 106 334-341 2003年9月 Major etiologic factors associated with human hepatocellular carcinomas (HCCs) include infection with hepatitis C (HCV) and hepatitis[researchmap.jp]

Pathophysiology

  • The results contribute clues about early pathophysiology of this retinal degeneration and provide additional power for genetic mapping of the L-ORD locus.[ncbi.nlm.nih.gov]
  • 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]
  • Ongoing genetic research continues to change the understanding of pathophysiology. Stargardt's disease and fundus flavimaculatus [ 3 ] There has been some question as to whether this condition is two diseases or one.[patient.info]
  • Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9):620-7. Radtke ND, Aramant RB, Seiler MJ, Petry HM, Pidwell D.[rarediseases.org]

Prevention

  • […] can't improve it" (Lord Kelvin). ( 27581215 ) Kuhle J 2016 46 Editorial Commentary: Helping Those Who Seek the Company of "Lord Stanley": Hockey Players and Hip Injuries Highlight the Current State and Future Challenges in Understanding, Treating, and Preventing[malacards.org]
  • New treatment strategies are also being explored including retinal cell transplants, drugs that will prevent or slow the progress of the disease, radiation therapy, gene therapies, and agents that will prevent the growth of new blood vessels under the[randeye.com]
  • Foundation Fighting Blindness homepage The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments and cures for people affected by retinitis pigmentosa, age-related macular degeneration,[blindness.org]
  • Ayyagari acknowledges funding from Research to prevent blindness, Foundation Fighting Blindness and Thome Foundation. None of the other authors have any conflicting interests to disclose. 2016 by Ophthalmic Communications Society, Inc.[journals.lww.com]
  • Furthermore in TrkB GFAP knockout mice, BDNF did not prevent photoreceptor degeneration and failed to stimulate Müller glial cell proliferation and expression of neural markers in the degenerating retina.[natureasia.com]

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