Vitelliform macular dystrophy
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Vitelliform macular dystrophy is a genetic eye disorder that can cause worsening (progressive) vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces.
Descrição
Vitelliform macular dystrophy is a genetic eye disorder that can cause worsening (progressive) vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces.
Vitelliform macular dystrophy causes a fatty yellow pigment (called lipofuscin) to build up in cells underlying the macula. Over time, large amounts of this substance can damage cells that are critical for clear central vision. As a result, people with this disorder often lose their central vision, and their eyesight may become blurry or distorted. Vitelliform macular dystrophy typically does not affect side (peripheral) vision or the ability to see at night.
Researchers have described two forms of vitelliform macular dystrophy with similar features. The early-onset form (known as Best disease) usually appears in childhood; the age at which symptoms begin and the severity of vision loss vary widely. The adult-onset form begins later, usually in mid-adulthood, and tends to cause vision loss that worsens slowly over time. The two forms of vitelliform macular dystrophy each have characteristic changes in the macula that can be detected during an eye examination.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Vitelliform dystrophy
Related patient information and medicines
Patient information leaflet
Problemas visuais
Visual problems can arise from problems affecting different parts of the eye. There is currently no treatment which stops the progress of the condition, although complete loss of visio... Retinal dystrophy Retinal dystrophies are a group of inherited (genetic) disorders which result in changes to the retina which may affect vision. They are fairly.
Patient information leaflet
Problemas oculares
Corneal dystrophies These are a group of progressive conditions which cause a build-up of cloudy material in the cornea. See the separate leaflet called Visual problems. Retinal dystrophy Retinal dystrophies are a group of inherited disorders which result in changes to the retina, which may affect vision; some people with this condition will.
Patient information leaflet
Hemorragia vítrea
Hemorragia vítrea é bleeding into the jelly-like filling of the back part of your eye. This substance is the vitreous humour. It helps the eye keep its shape and is normally clear, allowing light from outside the eye to pass through it to reach the retina. Vitreous haemorrhage varies in degree from mild, with 'floaters' and haziness in the.
Patient information leaflet
Distrofia muscular
Distrofia muscular é um inherited (genetic) disorder causing muscle weakness. There are different types of muscular dystrophy, which vary as to how severe they are, ranging from very mild to severe. The different types also vary as to what age they begin. What is muscular dystrophy. Distrofia muscular (MD) is the name given to a group of.
Patient information leaflet
Envelhecimento
Envelhecimento (also spelt aging) é the process of becoming older. This happens continually throughout life. Older age tends to bring with it unwelcome changes such as a greater risk of health problems and typical changes to appearance. As pop... Changes to hair colour (grey/white) and pattern (balding, particularly in men). Deterioration in memory..
Patient information leaflet
Descolamento de retina
They tend to be patients in whom the macula was de... Other patients may be left with some functional vision. However, for some, macular detachment will lead to severe visual impairment in the affected eye. Having had RD in one eye increases the risk of it happening in the other eye. It can also occasionally recur in the first eye. For this reason.
Leitura adicional e referências
- Vitelliform macular dystrophy; MedlinePlus, National Library of Medicine.
- Boon CJ, Klevering BJ, Leroy BP, Hoyng CB, Keunen JE, den Hollander AI. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res. 2009 May;28(3):187-205. doi: 10.1016/j.preteyeres.2009.04.002. Epub 2009 Apr 16.
- Do P, Ferrucci S. Adult-onset foveomacular vitelliform dystrophy. Optometry. 2006 Apr;77(4):156-66. doi: 10.1016/j.optm.2006.01.020.
- Felbor U, Schilling H, Weber BH. Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Hum Mutat. 1997;10(4):301-9. doi: 10.1002/(SICI)1098-1004(1997)10:43.0.CO;2-J.
- Kramer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schutt F, Holz FG, Weber BH. Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. Eur J Hum Genet. 2000 Apr;8(4):286-92. doi: 10.1038/sj.ejhg.5200447.
- MacDonald IM, Lee T, Lawrence J. Bestrophinopathies. 2003 Sep 30 [updated 2020 Jul 16]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1167/
- Renner AB, Tillack H, Kraus H, Kohl S, Wissinger B, Mohr N, Weber BH, Kellner U, Foerster MH. Morphology and functional characteristics in adult vitelliform macular dystrophy. Retina. 2004 Dec;24(6):929-39. doi: 10.1097/00006982-200412000-00014.
- Renner AB, Tillack H, Kraus H, Kramer F, Mohr N, Weber BH, Foerster MH, Kellner U. Late onset is common in best macular dystrophy associated with VMD2 gene mutations. Ophthalmology. 2005 Apr;112(4):586-92. doi: 10.1016/j.ophtha.2004.10.041.
- Seddon JM, Afshari MA, Sharma S, Bernstein PS, Chong S, Hutchinson A, Petrukhin K, Allikmets R. Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy. Ophthalmology. 2001 Nov;108(11):2060-7. doi: 10.1016/s0161-6420(01)00777-1.
- Spaide RF, Noble K, Morgan A, Freund KB. Vitelliform macular dystrophy. Ophthalmology. 2006 Aug;113(8):1392-400. doi: 10.1016/j.ophtha.2006.03.023.
- Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet. 1993 Mar;3(3):213-8. doi: 10.1038/ng0393-213.
- White K, Marquardt A, Weber BH. VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. Hum Mutat. 2000;15(4):301-8. doi: 10.1002/(SICI)1098-1004(200004)15:43.0.CO;2-N.
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