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Vitelliform Macular Dystrophy

2007; Elsevier BV; Volume: 114; Issue: 6 Linguagem: Inglês

10.1016/j.ophtha.2007.03.019

1549-4713

Giuseppe Querques, Nicola Delle Noci,

Retinal Imaging and Analysis

We read with interest the article by Spaide et al1Spaide R.F. Noble K. Morgan A. Freund K.B. Vitelliform macular dystrophy.Ophthalmology. 2006; 113: 1392-1400Abstract Full Text Full Text PDF PubMed Scopus (119) Google Scholar on vitelliform macular distrophy (VMD). Vitelliform macular distrophy is characterized by the deposition of yellowish material (lipofuscin) in the retinal pigment epithelium (RPE)2Deutman A.F. Hoyng C.B. Macular dystrophies.in: Ryan S.J. Ogden T.E. Hinton D.R. 3rd ed. Retina. Vol. 2. Mosby, St. Louis2001: 1210-1257Google Scholar, 3Souied E.H. Querques G. Coscas G. Soubrane G. Retinal degenerations and dystrophies.in: Saxena S. Meredith T.A. Optical Coherence Tomography in Retinal Diseases. Jaypee, New Delhi2005: 221-250Google Scholar because of mutation in the gene coding for bestrophin, a Ca2+-sensitive Cl− channel protein located on the basolateral membrane of RPE cells.4Petrukhin K. Koisti M.J. Bakall B. et al.Identification of the gene responsible for Best macular dystrophy.Nat Genet. 1998; 19: 241-247Crossref PubMed Scopus (562) Google Scholar The accumulation of yellow material causes a circumscribed dome-shaped lesion, with admixed transparent fluid, which seems to increase over time. On the other hand, patients with central serous chorioretinopathy have optical coherence tomography evidence of accumulating autofluorescent material on the outer surface of the retina in areas of retinal detachment. This material, thought to be aggregates of shed photoreceptor outer segments, may accumulate in part because the lack of apposition of the retina to the RPE decreases the phagocytosis of the outer segments5Spaide R.F. Klancnik Jr, J.M. Fundus autofluorescence and central serous chorioretinopathy.Ophthalmology. 2005; 112: 825-833Abstract Full Text Full Text PDF PubMed Scopus (165) Google Scholar; this process would load the RPE cells with materials that are known precursors to lipofuscin. Thus, autofluorescent material that is found in the RPE in VMD as well as in central serous chorioretinopathy may be explained by phagocytosis of the older outer segments with the degenerated material accumulating over time. We agree with Spaide et al that although the basic defect in VMD may differ from the underlying etiologic cause of central serous chorioretinopathy, the net result in VMD patients may be the presence of subretinal fluid and associated altered outer segment turnover as a consequence. Therefore, we pose a question about a 61-year-old female patient whom we observed in our department for surgical treatment with diagnosis of vitreomacular traction syndrome with macular epiretinal membrane formation in the left eye. Based on our findings and according to the theory of Spaide et al1Spaide R.F. Noble K. Morgan A. Freund K.B. Vitelliform macular dystrophy.Ophthalmology. 2006; 113: 1392-1400Abstract Full Text Full Text PDF PubMed Scopus (119) Google Scholar on the pathogenesis of VMD, the lack of apposition of the retina to the RPE due to the vitreomacular traction seems to have produced in this patient the seeming clinical picture of multifocal Best's disease (Fig 1 [available at http://aaojournal.org]). We would like to know the authors' opinion on the possible pathogenic role of the anteroposterior traction and cellular proliferation at the vitreomacular interface in this case of apparent multifocal Best's disease. Author replyOphthalmologyVol. 114Issue 6PreviewI thank Drs Querques and delle Noci for their description and pictures of a very interesting case. The patient has an epiretinal membrane, detachment of the macula with accumulation of yellowish material under the retina and on the retinal pigment epithelium (RPE). The phenotypic appearance suggests multifocal vitelliform macular dystrophy. The likelihood that this is the correct diagnosis would be increased by confirmatory electro-oculogram test results. The extent of the neurosensory elevation, which in turn may affect the pattern and extent of yellowish material deposition, may be modified by the epiretinal membrane. Full-Text PDF