Presentation
The clinical presentation of autosomal dominant vitreoretinopathy is variable. Electrooculography seems to be a discriminative test. [ncbi.nlm.nih.gov]
Results: The patient presented moderate vitreous and SRH in the left eye. A distinct, annular hyperpigmented band was present in both eyes. Vitrectomy improved visual acuity, and the SRH gradually regressed without recurrence. [mayoclinic.pure.elsevier.com]
Treatment
Management and treatment Management is mainly symptomatic. [orpha.net]
Treatment Treatment Options: No prophylactic treatment has been reported but patients need lifelong monitoring to detect and treat glaucoma, retinal neovascularization, and detachments. [disorders.eyes.arizona.edu]
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]
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]
Prognosis
Autosomal dominant vitreoretinochoroidopathy is a well-defined condition featuring presenile cataracts, vitreal degeneration, characteristic ophthalmoscopic findings, and good visual prognosis. [ncbi.nlm.nih.gov]
The long-term clinical findings and visual prognosis of these patients continues to evolve over time. MATERIALS AND METHODS: The retina was assessed by fundus photography, fluorescein angiography, ... [epub.uni-regensburg.de]
Prognosis - Vitreoretinochoroidopathy dominant Not supplied. Treatment - Vitreoretinochoroidopathy dominant Not supplied. Resources - Vitreoretinochoroidopathy dominant Not supplied. [checkorphan.org]
Diagnosis and Prognosis: This is an eye disease that can only be diagnosed by an ophthalmologist. [disorders.eyes.arizona.edu]
Etiology
And then PCR and direct sequencing were employed for mutation analysis on the candidate etiologic genes in all members of the family. [caod.oriprobe.com]
Etiology ADVIRC is caused by mutations in BEST1 (11q12) (Val86Met, Val235Ala and Tyr236Cys), which encodes bestrophin-1 (expressed specifically in the retinal pigment epithelium (RPE)) forming a calcium activated chloride channel involved in regulation [orpha.net]
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
Summary Epidemiology At least 3 pedigrees have been reported to have ADVIRC. Clinical description Age of onset is variable, but can occur in childhood. [orpha.net]
Occasionally, the macular detachment may fail to resolve spontaneously; for these eyes, laser photocoagulation appears to be beneficial, as it accelerates the resorption of subretinal fluid and improves vision. [1] [2] [3] EPIDEMIOLOGY AND PATHOGENESIS [medtextfree.wordpress.com]
Pathophysiology
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]
These three diseases mimic CSC by producing similar clinical findings, including neural retinal detachment, RPE changes, RPED, and subretinal exudate, but they have a significantly different pathophysiology, prognosis, and treatment. [medtextfree.wordpress.com]
Pathophysiology The MFRP protein is selectively expressed in the retinal pigment epithelium (RPE) and the ciliary body, with low expression in the brain. [eyewiki.aao.org]
Prevention
Prevention - Vitreoretinochoroidopathy dominant Not supplied. [checkorphan.org]
Additional information This work was supported, in part, by an unrestricted grant from Research to Prevent Blindness Inc. and from The Deshong Family and Paul Family. [tandfonline.com]
/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis of Alcohol 0% Unclassified 100% Some eye [medicbind.com]
/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis of Alcohol 0% Unclassified 100% Health Topic [codelay.com]
[…] less noticeable, and eventually most symptoms will completely disappear. [7] Prompt examination of patients experiencing vitreous humor floaters combined with expeditious treatment of any retinal tears has been suggested as the most effective means of preventing [en.wikipedia.org]