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]

• 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]

• 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]

• Short Arm

  arm of chromosome 1. [clinicalgate.com]

• 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]

• Pierre Robin Syndrome

  Robin syndrome with fetal chondrodysplasia, is an autosomal recessive disorder characterized by a single-base mutation in the COL11A2 gene, which substitutes glutamate for glycine. 56 In the past, it was often misdiagnosed as Stickler syndrome. [clinicalgate.com]

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 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]

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]

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]

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]

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]

Prognosis The prognosis for lattice degeneration in itself is good. The vast majority of patients will have lesions that are completely stable or slowly progressive. [eyewiki.aao.org]

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 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]

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]

Pathophysiology Clinical pathophysiology The clinical definition of early age-related macular degeneration (AMD or ARMD) varies with the source consulted. [emedicine.medscape.com]

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]

Emphasis is placed on management of risk factors, treatment of symptoms and prevention of further vision loss. [nbvcsr.com]