Vitelliform macular dystrophy - Wikipedia
Heidary F, Gharebaghi R (March 2021). "Natural course of the vitelliform stage in best vitelliform macular dystrophy: a five- ... Heidary F, Gharebaghi R (March 2021). "Natural course of the vitelliform stage in best vitelliform macular dystrophy: a five- ... Vitelliform macular dystrophy causes a fatty yellow pigment (lipofuscin) to build up in cells underlying the macula. The ... Vitelliform macular dystrophy does not affect side (peripheral) vision or the ability to see at night. Researchers have ...
Ophthal Bytes - Best Vitelliform Macular Dystrophy - EyeToday
Association of optic nerve head drusen with best vitelliform macular dystrophy: A case series<...
Association of optic nerve head drusen with best vitelliform macular dystrophy: A case series. Case Reports in Ophthalmology. ... Association of optic nerve head drusen with best vitelliform macular dystrophy : A case series. In: Case Reports in ... Association of optic nerve head drusen with best vitelliform macular dystrophy: A case series. / White, Robert J.; Watson, ... Dive into the research topics of Association of optic nerve head drusen with best vitelliform macular dystrophy: A case series ...
Outer Retinal Structure in Best Vitelliform Macular Dystrophy
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UCL Discovery
Retinal Disorders | Retina | Macular Degeneration | MedlinePlus
Vitelliform macular dystrophy: MedlinePlus Genetics (National Library of Medicine) * Wagner syndrome: MedlinePlus Genetics ( ... Macular pucker - scar tissue on the macula. *Macular hole - a small break in the macula that usually happens to people over 60 ... Cone-rod dystrophy: MedlinePlus Genetics (National Library of Medicine) * Fundus albipunctatus: MedlinePlus Genetics (National ... Stargardt macular degeneration: MedlinePlus Genetics (National Library of Medicine) * TRNT1 deficiency: MedlinePlus Genetics ( ...
Ghent University Academic Bibliography
Mutations in IMPG1 cause vitelliform macular dystrophies Gaël Manes, Isabelle Meunier, Almudena Avila-Fernández, Sandro Banfi, ... The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy Ivana Peluso, Ivan Conte, ... Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity Nicole TM ...
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options | British Journal of...
... and adult vitelliform macular dystrophy but not age-related macular degeneration. Eur J Hum Genet 2000;8:286-92.doi:10.1038/sj. ... Best Vitelliform Macular Dystrophy. In: Adam MP , Ardinger HH , Pagon RA , eds. GeneReviews((R. Seattle (WA: University of ... The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci U S A 2002;99:4008-13. ... Mutations in IMPG1 cause vitelliform macular dystrophies. Am J Hum Genet 2013;93:571-8.doi:10.1016/j.ajhg.2013.07.018 ...
Best Disease: Background, Pathophysiology, Epidemiology
... also termed vitelliform macular dystrophy, is typically an autosomal dominant disorder, which classically presents in childhood ... Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. Retina. 2011 Mar ... Classic egg-yolk appearance in the second (vitelliform) stage of vitelliform macular dystrophy. The 0.5-6 mm diameter yellow or ... Effect of docosahexaenoic acid supplementation on the macular function of patients with Best vitelliform macular dystrophy: ...
High-tech imaging reveals details about rare eye disorder | National Eye Institute
... researchers from the National Eye Institute have determined that retinal lesions from vitelliform macular dystrophy (VMD) vary ... Retina with egg-yolk-like lesion in a person with vitelliform macular dystrophy. Image Johnny Tam, National Eye Institute. ... Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal ... Discovery sets the stage for development of new therapies to treat vitelliform macular dystrophy ...
PubMed (OMIM) for id: 411553 - Search Results - PubMed
... and adult vitelliform macular dystrophy but not age-related macular degeneration. Krämer F, White K, Pauleikhoff D, Gehrig A, ... The vitelliform macular dystrophy protein defines a new family of chloride channels. Sun H, Tsunenari T, Yau KW, Nathans J. Sun ... VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. White K, Marquardt A, Weber BH. White K ... Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of ...
Publications
ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY SECONDARY TO A NOVEL IMPG2 GENE VARIANT. Retin Cases Brief Rep. 2021 Jul 1; 15 (4): ... A model of best vitelliform macular dystrophy in rats. Invest Ophthalmol Vis Sci. 2004 Oct; 45(10):3733-9. View PubMed ... the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal ... Vitelliform dystrophies: Prevalence in Olmsted County, Minnesota, United States. Ophthalmic Genet. 2017 Mar-Apr; 38 (2):143-147 ...
Related Articles | Annals Singapore
A Novel Mutation of the VMD2 Gene in a Chinese Family with Best Vitelliform Macular Dystrophy. Yang Li, Guanglu Wang, Bing Dong ... Best vitelliform macular dystrophy is an autosomal dominant disorder characterised by an egg yolk-like appearance of the macula ... Macular Carotenoids and Age-related Maculopathy. Eamonn OConnell, Kumari Neelam, John Nolan, Kah-Guan Au Eong, Stephan Beatty ... Age-related Macular Degeneration: An Emerging Challenge for Eye Care and Public Health Professionals in the Asia Pacific Region ...
Alfredo Dubra, PhD's Profile | Stanford Profiles
To characterize outer retina structure in best vitelliform macular dystrophy (BVMD) and to determine the effect of macular ... Outer Retinal Structure in Best Vitelliform Macular Dystrophy JAMA OPHTHALMOLOGY Kay, D. B., Land, M. E., Cooper, R. F., Dubis ... PHOTORECEPTOR INNER SEGMENT MORPHOLOGY IN BEST VITELLIFORM MACULAR DYSTROPHY. Retina (Philadelphia, Pa.) Scoles, D., Sulai, Y. ... To assess the structure of cone photoreceptors and retinal pigment epithelial (RPE) cells in vitelliform macular dystrophy (VMD ...
Molecular mechanisms of gating in the calcium-activated chloride channel bestrophin | eLife
2002) The vitelliform macular dystrophy protein defines a new family of chloride channels PNAS 99:4008-4013. ... encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Bests disease) Human Molecular ... 1998) Identification of the gene responsible for Best macular dystrophy Nature Genetics 19:241-247. ... This research is significant not only because mutations in BEST1 are linked to a spectrum of inherited retinal dystrophies, but ...
Clinical and Translational Imaging Section | National Eye Institute
Best Disease: Background, Pathophysiology, Epidemiology
... also termed vitelliform macular dystrophy, is typically an autosomal dominant disorder, which classically presents in childhood ... Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. Retina. 2011 Mar ... Classic egg-yolk appearance in the second (vitelliform) stage of vitelliform macular dystrophy. The 0.5-6 mm diameter yellow or ... Effect of docosahexaenoic acid supplementation on the macular function of patients with Best vitelliform macular dystrophy: ...
Gwyneth Farrar'Department of Genetics - Trinity College Dublin
Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophy, JOURNAL OF MEDICAL GENETICS , 35 (1), (JAN), ... Evidence for genetic heterogeneity in Bests vitelliform macular dystrophy, Journal of medical genetics, 32, (11), 1995, p855-8 ... Humphries, P. and Kenna, P. and Farrar, G.J., New dimensions in macular dystrophies, Nature Genetics, 8, (4), 1994, p315-317 ... NLRP3 has a protective role in age-related macular degeneration through the induction of IL-18 by drusen components., Nature ...
Molecular Vision: Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes...
... mutations in the PRPH2 gene can result in a broad spectrum of phenotypes ranging from RP to adult vitelliform macular dystrophy ... The proband (#5250; Figure 1) was diagnosed with cone-rod dystrophy at age 18 years with a family history of RP spanning ... This testing revealed likely disease-causing mutations in three retinal dystrophy genes (PRPH2- Gene ID: 5961 OMIM: 179605, ... Retinal dystrophies are a genetically and phenotypically heterogeneous collection of eye diseases disturbing the function of ...
vitelliform macula | Hereditary Ocular Diseases
Adult vitelliform macular dystrophy. Brecher R, Bird AC. Adult vitelliform macular dystrophy. Eye (Lond). 1990;4 ( Pt 1):210-5. ... Macular Dystrophy, Vitelliform 4. Clinical Characteristics. Ocular Features: This is a late onset form of vitelliform dystrophy ... Macular Dystrophy, Vitelliform 3. Clinical Characteristics. Ocular Features: Patients generally become symptomatic (reduced ... Mutations in IMPG1 cause vitelliform macular dystrophies. Manes G, Meunier I, Avila-Fernandez A, Banfi S, Le Meur G, Zanlonghi ...
Johns Hopkins scientists elected to Institute of Medicine : Gazette Archives
Blog - Low Vision Aids
Our blog discusses macular degeneration, retinitis pigmentosa, glaucoma hereditary, and other causes of low vision. ... What is Vitelliform Macular Dystrophy?. September 29, 2023 No Comments An uncommon, inherited eye condition known as ... What is Wet Macular Degeneration?. July 6, 2021 2 Comments Wet Macular degeneration is one of two types of macular degeneration ... Diabetic Macular Edema. February 15, 2023 No Comments What is Diabetic Macular Edema? Diabetic Macular Edema (DME) is a ...
Sten Andréasson - Forskningsoutput
- Lunds universitet
Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy.. Schatz, P., Sharon, D., Al- ... Macular function measured by binocular mfERG and compared with macular structure in healthy children.. Molnar, A. E. C., ... Macular function in preterm children at school age. Åkerblom, H., Andreasson, S. & Holmström, G., 2016 dec., I: Documenta ... Longitudinal changes of macular curvature in patients with retinitis pigmentosa. Meinert, M., Ueno, S., Komori, S., Koyanagi, Y ...
WILLIAM A. BELTRAN
Department of Ophthalmology and Visual Sciences - Research output
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Specific PHGKB|Rare Diseases PHGKB|PHGKB
Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophy. Wong Raymond L M, et al. ... Multimodal imaging and genetic analysis of adult-onset best vitelliform macular dystrophy in Chinese patients. Lin Ying, et al ... The Clinical Features and Genetic Spectrum of a Large Cohort of Chinese Patients With Vitelliform Macular Dystrophies. Xuan Yi ... Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy. Lin ...
Paraneoplastic and Related Retinopathies
... such as acute exudative polymorphous vitelliform maculopathy (AEPVM), or Best macular dystrophy (BMD). Indeed, in a recent case ... Acute idiopathic exudative polymorphous vitelliform maculopathy. In: Gass JDM, ed. Stereoscopic atlas of macular diseases: ... Clinically, PVM may more closely resemble other vitelliform dystrophies, ... consistent with Best macular dystrophy. However, no family history of BMD was elicited, and genetic analysis for VMD2 mutation ...