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Adult-Onset Foveomacular Vitelliform Dystrophy



  • A total of 92 eyes presented with GA. Twenty-three (23) of these (25.0%) had RPD.[ncbi.nlm.nih.gov]
  • A plethora of reports have been made on Best’s disease; however, only a few literature has documented AOFVD. 1-2 CASE REPORT A 22-year-old female consulted for intermittent blurring of vision in both eyes.[paojournal.com]
  • ICGV was performed with 25 mg of ICG dissolved in 5 ml of saline and injected into the cubital vein, followed by 5 ml saline flush. ICGV was performed using the IMAGEnet system (Topcon) as described elsewhere [6].[docslide.com.br]
  • Power calculation suggested that the sample size was sufficient (80%) to rule out an association with an odds ratio above 2.5. CONCLUSIONS: These results suggest that genetic variants in PRPH2 do not compose a major genetic risk factor for AFVD.[ncbi.nlm.nih.gov]
  • […] symbols: CACD2, RDS, RP7, TSPAN22, rd2 ) , BEST1 (Withdrawn symbols: BEST, BMD, RP50, VMD2 ) , IMPG2 (Withdrawn symbols: IPM200, RP56 ) , IMPG1 (Withdrawn symbols: GP147, IPM150, SPACR ) Mouse Orthologs Prph2 (Withdrawn symbols: Nmf193, Rd-2, Rd2, Rds[mousephenotype.org]
  • In the Melbourne Collaborative Cohort Study, Finger et al 32 found that RPD were associated with a moderately elevated systolic blood pressure, current smoking and a trend for an association with a history of myocardial infarction or stroke.[nature.com]


  • The mean CFT in AOFVD was reduced from 418 144 µm to 330 64 µm following treatment (p 0.03). At the final examination, visual acuity had improved in 3 eyes, stabilized in 1 eye, and was reduced in 7 of the AOFVD eyes examined.[ncbi.nlm.nih.gov]
  • METHODS: Fifteen patients with AOFVD and 10 healthy volunteers underwent complete ophthalmic examination, including visual acuity determination (Early Treatment Diabetic Retinopathy Study charts), blue-light autofluorescence (BL-AF) analysis, near-infrared[moh-it.pure.elsevier.com]


  • CONCLUSIONS: This study further confirms the good visual prognosis in the AOFVD eyes. Fixation stability measurement using BCEA demonstrates good evaluation of visual performance integrating traditional functional parameters.[ncbi.nlm.nih.gov]
  • Generally the prognosis is good. However, often the retina does become thin in the central affected area, and the sight may get slightly worse with age as the retina thins.[goodhopeeyeclinic.org.uk]
  • Prognosis - there is no progression.[patient.info]
  • Thus, OCT and AF findings may be helpful in following disease progression and evaluating visual prognosis.[visioncareprofessional.com]
  • […] for AOVM is typically good because the lesion lies in the RPE and does not involve the sensory retina. 1,2 Prognosis worsens as subretinal fluid accumulates from choroidal disruption with progression to exudative detachments. 1 Visual prognosis is directly[reviewofoptometry.com]


  • The presence of different pattern dystrophies within the same family suggests a common etiologic continuum.[ncbi.nlm.nih.gov]
  • Etiology Best disease is inherited in an autosomal dominant pattern, although there can be wide phenotypic variance.[eyewiki.org]
  • The differential diagnosis for RPE tears include GA due to advanced AMD and various etiologies of PED; the history and corrugated appearance of RPE on OCT can differentiate these pathologies.[ophthalmologymanagement.com]
  • Etiology Best vitelliform dystrophy is inherited in an autosomal dominant pattern, with diminished penetrance and a highly variable expression.[eyewiki.aao.org]


  • The 40% prevalence of RPD in consecutive patients with newly presenting AFVD in this series is much higher than reported in otherwise healthy individuals from any of the reported large epidemiological studies.[nature.com]
Sex distribution
Age distribution


  • Twelve (12) patients presented with identifiable angioid streaks, with 4 (36.4%) having RPD.ConclusionRPD are a frequent finding in eyes with newly presenting AFVD; not being restricted to AMD, but a finding common among diseases where pathophysiological[ncbi.nlm.nih.gov]
  • 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]
  • This observation is an interesting one, in that PXE is normally an autosomal recessive genetic disease with an established pathophysiology.[nature.com]
  • The ratio of males to females is approximately 1:1. [1] Pathophysiology [ edit ] Mutations in the RDS and VMD2 genes cause vitelliform macular dystrophy. Mutations in the VMD2 gene are responsible for Best disease.[en.wikipedia.org]
  • General Pathology and Pathophysiology The abnormal chloride channel in the RPE leads to a buildup of lipofuscin, a retinal breakdown pigment, between the outer retina and the retinal pigment epithelium.[eyewiki.org]


  • Contact Us Venue Hire Job vacancies About Us Our vision is that everyone has access to and receives high quality eye care for the prevention and treatment of eye disease in order to optimise, preserve and restore vision.[rcophth.ac.uk]
  • Primary prevention There are no recognized preventative measures. The diagnosis of Best disease is primarily made based on clinical appearance, however family history and adjunvant testing can help confirm the diagnosis.[eyewiki.org]
  • Our article reveals the importance of the electrophysiological exams regarding the diagnosis of BD, including the prevention of its clinical manifestation (autosomal dominant), and supplying concrete contributions to its genetic counseling.[sboportal.org.br]
  • Our article reveals the importance of electrophysiological exams in the diagnosis of Best vitelliform macular dystrophy, including the prevention of its clinical manifestation (autosomal dominant), providing concrete subsidies for genetic counseling.[scielo.br]
  • Core grant: P30EY014801 Research to Prevent Blindness Unrestricted Award. The authors have no conflicting relationship or proprietary interest in any aspect of this manuscript.[visioncareprofessional.com]

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