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Vitreoretinal Degeneration


Presentation

  • To our knowledge, we believe these to be the first cases of Wagner's disease to be presented in a nonwhite pedigree.[ncbi.nlm.nih.gov]
Arachnodactyly
  • Type I Stickler syndrome has multiple systemic features such as cleft palate, hearing impairment, premature arthritis, micrognathia, kyphoscoliosis, and some signs such as arachnodactyly that are found in the Marfan syndrome.[disorders.eyes.arizona.edu]
Short Stature
  • Systemic Features: Short stature, cleft palate, stiff joints, and conductive hearing loss are characteristic extraocular features of Kniest dysplasia.[disorders.eyes.arizona.edu]
Cotton Wool Spots
  • wool spots H35.82 Retinal ischemia H35.89 Other specified retinal disorders H35.9 Unspecified retinal disorder Abbreviations used here: NEC Not elsewhere classifiable This abbreviation in the Tabular List represents “other specified”.[icd10coded.com]
Retinal Microaneurysm
  • microaneurysms NOS 362.15 Retinal telangiectasia 362.16 Retinal neovascularization NOS 362.17 Other intraretinal microvascular abnormalities 362.18 Retinal vasculitis 362.20 Retinopathy of prematurity, unspecified 362.21 Retrolental fibroplasia 362.22[healthprovidersdata.com]
Retinal Exudates and Deposits
  • exudates and deposits 362.83 Retinal edema 362.84 Retinal ischemia 362.85 Retinal nerve fiber bundle defects 362.89 Other retinal disorders 362.9 Unspecified retinal disorder[healthprovidersdata.com]
Coxa Valga
  • Skeletal survey revealed multiple wormian bones, hypoplastic facial bones and mandible, narrow thorax with wavy ribs, narrow ilia, and coxa valga with slight broadening of the proximal femora, findings of which were individually minor, but the assemblage[ncbi.nlm.nih.gov]
Psychomotor Retardation
  • Mild psychomotor retardation is sometimes seen. High levels of keratin sulfate are found in the urine. Genetics Mutations in the COL2A1 gene (12q13.11-q13.2) coding for type II collagen is responsible for this autosomal dominant disorder.[disorders.eyes.arizona.edu]
Hypertelorism
  • The cardinal features included hyperextensibility of the joints, vitreoretinal degeneration with cataracts, and facial abnormalities, comprising hypertelorism, prominent eyes, downslanting of the palpebral fissures, mid-face recession with a short nose[ncbi.nlm.nih.gov]
Ataxia
  • Cerebellar atrophy with ataxia is found in some patients. Genetics This is an autosomal recessive disorder secondary to homozygous mutations in the COL18A1 gene (21q22.3).[disorders.eyes.arizona.edu]
Personality Change
  • Brain imaging has revealed a variety of defects and some patients have cognitive deficits and personality changes. Cerebellar atrophy with ataxia is found in some patients.[disorders.eyes.arizona.edu]
Nystagmus
  • Nystagmus, strabismus, small optic discs, glaucoma, and cataracts have been reported. Poor vision and progressive loss of acuity are common.[disorders.eyes.arizona.edu]

Workup

  • Full workup including full-field electroretinography and electrooculography were reported as normal, and genetic testing for Stargardt disease and macular dystrophies were negative.[djo.harvard.edu]
  • […] coherence tomography (optional; may be used to follow disease progression): To examine retinal thickness Multifocal electroretinography (optional; may be used to follow disease progression): To evaluate functional response of retinal rods and cones See Workup[emedicine.medscape.com]
Electroretinogram Abnormal
  • Typical fundus findings combined with night blindness and electroretinogram abnormalities permited the diagnosis of Goldmann-Favre vitreoretinal degeneration.[ncbi.nlm.nih.gov]

Treatment

  • Treatment Treatment Options: Treatment is largely supportive. Attempts at repair of retinal detachments often fail and phthisis bulbi is not uncommon.[disorders.eyes.arizona.edu]
  • Treatment An ophthalmologist who is experienced in interpreting the results of sophisticated examination and testing should recommend the best course of treatment for each patient.[neec.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]
  • Research and treatment of AMD We now routinely use drugs called anti-VEGF therapies such as Lucentis, Avastin, Eyelea, and Macugen in the treatment of Wet AMD.[orlick-berger-kasper.com]

Prognosis

  • Retinal detachment was not encountered, although reports in the nonophthalmic literature claim up to 50% retinal detachment rate and poor visual prognosis in these patients.[ncbi.nlm.nih.gov]
  • Prognosis - Vitreoretinal degeneration Not supplied. Treatment - Vitreoretinal degeneration Not supplied. Resources - Vitreoretinal degeneration Not supplied.[checkorphan.org]
  • Prognosis The prognosis of lattice degeneration is generally good. Patient Education Educate the patient on signs of retinal detachment. Encourage annual follow-up for dilated eye examinations.[emedicine.medscape.com]
  • Fortunately, seminal sight-saving advances have occurred over the past 20 years, partly through efforts at Stanford, that have dramatically improved the prognosis for return and preservation of vision.[stanfordhealthcare.org]

Etiology

  • Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]
  • 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]
  • P athophysiology The etiology of lattice is questionable. It appears to be due to dropout of peripheral retinal capillaries with resulting ischemia, which induces thinning of all retinal layers.[eyecaretrust.org.uk]
  • Lattice Degeneration Etiology Lattice degeneration is a common clinical entity which has many morphologies.[eyewiki.aao.org]

Epidemiology

  • Epidemiology Frequency United States Lattice degeneration affects approximately 10% of the population and is bilateral in 30-50% of patients who are affected.[emedicine.medscape.com]
  • February 13, 2017 By Dr Chang Epidemiology Age-related macular degeneration (AMD) is the number 1 cause of blindness in the Western world. It affects 8 million Americans , including more than 30% of American older than 75 years of age.[mersi.com]
  • We believe that future prospective, population studies will better characterize the epidemiology and progression rates of vitreoretinal separation.[dovepress.com]
  • Covert completed his MPH in Epidemiology at the University of Michigan, School of Public Health in Ann Arbor, Michigan.[arcpc.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]
  • 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]
  • 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.ro]
  • […] disease of the peripheral retina characterized by oval or linear patches of retinal thinning. [1, 2] The prevalence peaks by the second decade and is believed to be minimally progressive but may be complicated by retinal breaks and retinal detachment. [3] Pathophysiology[emedicine.medscape.com]

Prevention

  • Prevention - Vitreoretinal degeneration Not supplied. Diagnosis - Vitreoretinal degeneration The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Vitreoretinal degeneration.[checkorphan.org]
  • Prevention In a large clinical trial throughout the US, called the AREDS2 study, daily use of a combination of vitamin A, C and E demonstrated a benefit for certain forms of dry age-related macular degeneration.[neec.com]
  • Blood, fluid, yellow exudation characteristic of Wet Macular degeneration OCT showing elevation from blood and leakage Because the wet form of macular degeneration is often devastating, we have been searching for ways to prevent it from occurring.[orlick-berger-kasper.com]
  • […] and Early detection There are no effective methods of preventing the vitreous changes that lead to RRD.[ejournalofophthalmology.com]
  • There are new medications available that can not only prevent vision loss, but improve vision as well.[pacificmedicalcenters.org]

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