Best Viteliform Dystrophy. Presentation of a case
Keywords:
vitelliform macular dystrophy, visual acuity, triamcinolone, optical coherence tomography.Abstract
Introduction: best vitelliform dystrophy or Best's disease is a hereditary disorder, with an autosomal dominant inheritance, very rare that is characterized by bilateral single or multiple macular lesions that evolves through different stages and in more advanced stages produces loss of visual acuity; It is usually diagnosed in adulthood, despite its onset at an early age.
Clinical case: male patient of 8 years of age comes for the first time to our consultation 14 months ago, referring to the wavy objects and decreased vision of the right eye. No history of similar picture, or associated symptoms. It does not refer to personal pathological or family history. Nor does it refer to personal or family eye histories. An ophthalmological examination was carried out and, for clinical reasons; we suspected Best vitelliform dystrophy, complicated by choroidal neovascularization in his right eye. The diagnosis is made through coherent optical tomography, fluorescein angiography and electroculogram. Periocular treatment with triamcinolone 1cc was indicated, seeking an anti-angiogenic effect in his right eye, after which visual acuity improved from 0.6 to 0.7.
Conclusions: diagnosis of Best vitelliform dystrophy was made from the clinical examination and it was corroborated with coherent optical tomography, fluorescein angiography and electroculogram. Treatment was indicated with which the patient improves his visual acuity.
Downloads
References
1. Lee YS, Kim ES, Kim M, Kim YG, Kwak HW, Yul SY. Atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy: case reports. BMC Ophthalmol [Internet]. 2012 [citado10 May 2016]; 20:12-25. Disponible en: http://bmcophthalmol.biomedcentral.com/articles/10.1186/1471-2415-12-25.
2. Ryan M. Distrofias maculares. [s.n]: [s.l.]; 2013.p.255-61.
3. Gerth C, Zawadzki RJ, Werner JS, Heon E. Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB). Doc Ophthalmol [Internet]. 2009 [citado 10 May 2016]; 28 (3): 239–46. Disponible en: http://link.springer.com/article/10.1007%2Fs10633-008-9154-5.
4. 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; 28(3):187–205.
5. Taban C, Merticariu A, Melcioiu L, Oprescu A, Ionescu R, Iacob A, et al. Choroidal neovascular membrane in Best juvenile dystrophy treated with intravitreal bevacizumab. Oftalmologia. 2013; 57(3):42-51, 42-6.
6. Iannaccone A, Kerr NC, Kinnick TR, Calzada JI, Stone EM. Autosomal recessive Best vitelliform macular dystrophy: Report of a family and management of early-onset neovascular complications. Arch Ophthalmol [Internet]. 2011 [citado 16 Mar 2016]; 129 (2):211---7. Disponible en: http://archopht.jamanetwork.com/article.aspx?articleid=426977.
7. Zhao L, Grob S, Corey R, Krupa M, Luo J, Du H, et al. A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy. Eye (Lond) [Internet]. 2012 [citado 27 Ene 2016]; 26(6): 866-871. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376281/.
8. Kanski JJ, Bowling B. Oftalmología clínica. 7a ed. Barcelona: Elsevier; 2012. p. 665.
9. Alisa Victoria K, Jin Poi T, Shatriah I, Zunaina E, Ngah NF. Choroidal neovascularization secondary to Best’s vitelliform macular dystrophy in two siblings of a Malay family. Clin Ophthalmol [Internet]. 2014 [citado 18 Feb 2016]; 8: 537. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3958546/.
10. Leu J, Schrage NF, Degenring RF. Choroidal neovascularization secondary to Best’s disease in a 13-year-old boy treated by intravitreal bevacizumab. Graefes Arch Clin Exp Ophthalmol [Internet]. 2007 [citado 16 Mar 2016]; 245 (11):1723-5. Disponible en: http://link.springer.com/article/10.1007/s00417-007-0604-7.
11. López Mendoza S, Díaz Zapiena AI, Nuño Suárez MA. Enfermedad de Best o distrofia macular viteliforme. A propósito de un caso. Rev Mex Oftalmol [Internet]. 2016 [citado 17 Feb 2016]; 90(2):89-93. Disponible en: http://www.elsevier.es/es-revista-revista-mexicana-oftalmologia-321-articulo-enfermedad-best-o-distrofia-macular-S0187451915000980.
12. Wu L, Benavides R, Porras A, García Amaris RA, Arévalos JF. Angiography of Macular Diseases [Internet]. En Arevalos JF (ed.). Retinal Angiography and Optical Coherence Tomography. New York: Springer; 2009 [citado 17 Feb 2016]. Disponible en: http://4eyes.gr/images/4eyes/pdf/retina/Retinal_Angiography_and_Optical_Coherence_Tomography.pdf.
13. Céspedes A, Pérez-De-Arcelus M, García-Arumí J. Distrofia macular viteliforme de Best asociada a neo vascularización coroidea. Arch Soc Esp Oftalmol [Internet]. 2012 [citado 17 Feb 2016]; 87(10):333–6. Disponible en: http://www.elsevier.es/es-revista-archivos-sociedad-espanola-oftalmologia-296-articulo-distrofia-macular-viteliforme-best-asociada-S0365669112000421.

Downloads
Published
How to Cite
Issue
Section
License
Avisos de derechos de autor propuestos por Creative Commons
1. Política propuesta para revistas que ofrecen acceso abierto
Aquellos autores/as que tengan publicaciones con esta revista, aceptan los términos siguientes:- Los autores/as conservarán sus derechos de autor y garantizarán a la revista el derecho de primera publicación de su obra, el cuál estará simultáneamente sujeto a la Licencia de reconocimiento de Creative Commons que permite a terceros compartir la obra siempre que se indique su autor y su primera publicación esta revista.
- Los autores/as podrán adoptar otros acuerdos de licencia no exclusiva de distribución de la versión de la obra publicada (p. ej.: depositarla en un archivo telemático institucional o publicarla en un volumen monográfico) siempre que se indique la publicación inicial en esta revista.
- Se permite y recomienda a los autores/as difundir su obra a través de Internet (p. ej.: en archivos telemáticos institucionales o en su página web) antes y durante el proceso de envío, lo cual puede producir intercambios interesantes y aumentar las citas de la obra publicada. (Véase El efecto del acceso abierto).