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Sorsby's Fundus Dystrophy


Presentation

  • In SFD, immunolabeling of TIMP-3 also was present in the sub-RPE deposit and in the inner portion of the ciliary body deposit. TIMP-3 immunoreactivity was more extensive in the SFD eye.[ncbi.nlm.nih.gov]
Falling
  • When light falls on rhodopsin, it undergoes a series of conformational changes ultimately generating electrical signals which are carried to the brain via the optic nerve. In the absence of light, rhodopsin is regenerated.[howlingpixel.com]
Epilepsy
  • […] filaments following status asthmat... 17594595 - Multi-minicore myopathy: a clinical and histopathological study of 17 cases. 3549415 - Sonographic demonstration of portal venous system thromboses secondary to inflammatory ... 17389715 - Sudden death in epilepsy[biomedsearch.com]
Long Arm
  • DNA studies show linkage to the long arm of chromosome 22 and a point mutation in the tissue inhibitor of metalloproteinases-3 gene.[ncbi.nlm.nih.gov]
  • This process is due to mutations in the TIMP3 gene, located on the long arm of chromosome 22 (22q12.3). This gene belongs to the family of genes and encoding TIMP tissue inhibitor of metalloproteinase-3.[ivami.com]
Myopathy
  • Paul N Baird; Kira Michalova; Robyn H Guymer Related Documents : 8585975 - Pandysautonomia: clinicopathological. report of 5 cases. 25419425 - Essential thrombocytosis accompanied by coagulation factor xii deficiency: a case report. 1356045 - Acute myopathy[biomedsearch.com]
Visual Hallucination
  • Visual hallucinations may also occur but these do not represent a mental illness.Macular degeneration typically occurs in older people. Genetic factors and smoking also play a role. It is due to damage to the macula of the retina.[howlingpixel.com]

Workup

Thrombocytosis
  • 19459875 Owner: NLM Status: MEDLINE Abstract/OtherAbstract: Authors: Joshua A Szental; Colin A Harper; Paul N Baird; Kira Michalova; Robyn H Guymer Related Documents : 8585975 - Pandysautonomia: clinicopathological. report of 5 cases. 25419425 - Essential thrombocytosis[biomedsearch.com]

Treatment

  • The average time until occurrence of angiographically documented CNV after initial treatment was 8.1 /- 8.9 weeks, but ranged from 2 weeks to 32 weeks.[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]
  • Sorsby's Fundus Dystrophy: a case report to raise awareness of the disease and potential future treatments.[biomedsearch.com]

Prognosis

  • Its functional prognosis is usually poor because of disciform macular scars and peripheral chorioretinal atrophies.[ncbi.nlm.nih.gov]
  • Prognosis - there is no progression.[patient.info]
  • Prognosis - Pseudoinflammatory fundus dystrophy Not supplied. Treatment - Pseudoinflammatory fundus dystrophy Not supplied. Resources - Pseudoinflammatory fundus dystrophy Not supplied.[checkorphan.org]
  • The introduction of anti-VEGF agents has greatly altered the prognosis for patients with CNV in AMD.[retinalphysician.com]
  • STGD typically has an onset at 10 to 20 years of age, and its earliest symptoms are consistent with slowly progressive central vision loss. 17 Later ages of onset have been associated with a more favorable visual prognosis. 18,19 Cases of asymptomatic[retinatoday.com]

Etiology

  • While advances in understanding the etiology of Sorsby's fundus dystrophy have been made, the condition remains difficult to treat and the outcome is often devastating.[ncbi.nlm.nih.gov]
  • Anderson Springer Science & Business Media, 31 Oct 2003 - Medical - 467 pages The topics in this volume explore the etiology, cellular mechanisms, epidemiology, genetics, models and potential therapeutic measures for the blinding diseases of retinitis[books.google.com]
  • Next Document: Importance of gene-environment interactions in the etiology of selected birth defects.[biomedsearch.com]

Epidemiology

  • Anderson Springer Science & Business Media, 31 Oct 2003 - Medical - 467 pages The topics in this volume explore the etiology, cellular mechanisms, epidemiology, genetics, models and potential therapeutic measures for the blinding diseases of retinitis[books.google.com]
  • Epidemiology of age-related maculopathy. Epidemiol Rev. 1995; 17 :347–360. [ PubMed ] [ Google Scholar ] 25. Cavender J., Ai E. vol. 3. JB Lippincott; Philadelphia: 1990. Hereditary macular dystrophies. (Duane's Clinical Ophthalmology).[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • Age-related macular degeneration is the leading cause of blindness in the Western world, and the pathophysiology of the condition is largely unknown.[ncbi.nlm.nih.gov]
  • With this review we propose a hypothesis on the development of AMD based on our observations of the pathophysiology underlying SFD.[antibodyreport.com]
  • Almost all patients with SFD develop CNV and therefore it is a useful model to examine the pathophysiology of this phenotype.[grantome.com]

Prevention

  • CONCLUSIONS: Results of this study suggest that the risk of persistence or recurrence of CNV after laser photocoagulation for extrafoveal CNV is unusually high in patients with Sorsby's fundus dystrophy, and that this treatment is ineffective in preventing[ncbi.nlm.nih.gov]
  • Antioxidant vitamins and minerals do not appear to be useful for prevention. There is no cure or treatment that returns vision already lost.[howlingpixel.com]
  • Prevention - Pseudoinflammatory fundus dystrophy Not supplied. Diagnosis - Pseudoinflammatory fundus dystrophy signs and symptoms of Pseudoinflammatory fundus dystrophy may vary on an individual basis for each patient.[checkorphan.org]
  • Prospects for Prevention and Treatment Progress is being rapidly made in understanding how specific mutations in specific genes cause the various forms of JMD.[eyesight.org]
  • “We have discovered that the drug has prevented loss of sight and improved vision in the younger patients suffering from SFD over a long period and this is an exciting new treatment for what is a rare condition affecting young people.”[uhs.nhs.uk]

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