MACULARDEGENEMTION m: MACULAR RETINAL DYSTROPHY, DEAFNESS AND DIABETES MELJJTUS , ASSOCIATED WlTH A MUTATION OF MITOCHONDRIAL DNA @RNA let'(3243)) a: P Ms.&t 1, PJ Guillausseau 1, B Vislettes 2, H Gin 3, A Gtimsldi 4, V Paquis 6, F Orsini 2, A Leys 5 Deprutments of Ophthalmology and Diabetolo~ ,,lPstis Lsriboiii&e, 2Mssseille. 3Bordeaux. Parts La PitiC, Ltege, 6~abcratory of Cellular Neurobiology, Nice. France. a:To repcst the association of macular dystrophy with matemslly inherited diabetes mellitus, deafness and "pigmentary due to a mutation of mitochondrial DNA (tRNA M&~&we examined 8 diabetic probands with this mutation to precise the characteris& of the tetinopathy associated with this mutation. R&D: These probands belonged to 6 different families; six of them had deafness. The 8 patients had a bilateral macular dystrophy, called "pattern dystrophy", chsracterised by radiate pattern of pigmented lesions surrounding the macula, and atrophic changes in the posterior pole. The peri hery of the fundus was unaffected. The extent of pigmen ~lesicms and atrophic changes diiered with cases, but the 3 probsnds of the sane family had the same aspect of the fundus. Vii acuity wss normal in 7 patients, and slightly decreased in cute. Electroretinogrsm wss nomtsl, that definitively eliminates the diasnosis of tetinitis &ntentosa. Conclusron: the ret&l lesion associated with maternally inherited diabetes mellitus due to a mutation of mitochondrial DNA (tRNA (leu (3243)) is a macular pattern dystrophy, whose visual prognosis is relatively good This aspect could be s good marker of the m"tati0". TITLE: "KINETIC B-SCAN ULTRASONOGRAPHY THE POSTERIOR OF VITREQREl'INAL INTERFACE IN EYES WITH AGE RELATED MACULAR HOLE<" AUlY0RS: CAPEANS C. SANTOS L. LORENZO J. COPENA W. PACHFCO P. RAF%0 E. and SANCHEZ SALoR M. Department of Ophthalrolqy ds cOmposteia(SPAIN). and INGO, University SUAREZ A. of Santiago PURPOSE: The etiopatholcgy of age related uncertain. There's general agreement that nal interface plays a determinant role in In this paper we will investigate which is ultrasoncqraphy point of view. METHODS: By using kinetic the posterior vitreoretinal lx holes, without retinal diagnosed by bionicroscopy. macular holes remairr; macular vitreoretithe pathcqenesis. this role by the B-scan ultrasoncgraphy we evaluate interface of 30 eyes haviq macudetachmsnt, which were previously RESULTS: A complete posterior vitreous detachment was confirmed in 6 patients, an operculae or pseudo-operculae could be visualiced in 10 patients. Incomplete posterior vitreous semaration with vitreous still attached to the macular area wasdemonstrated in 25 patients. Mscular thickness was evident in 22 patients, while fovea1 "depression" could be confirmed in 18 eyes. coNcLUSIONS: Sam hypothesis are based on the active contraction of the posterior vitreous cortex over the macula. Vitreous induced retraction cd" produce fovea1 detachment as the first step in the development of a ocular hole, cases which show incomplete vitreous separation may have vitreous cortex still adherent to the macula what provokes continues or intermittent traction on the tw.cu1.s. Eccqraphically detectabs& opercula or pseudo-opercula, my contribute to better distinguish the evolutive stage of the macular hole. 4x24 Zermatt Macular Dystrophy: phenotype and exclusion of a new known autosomal dominant macular genes. IDENTIFICATION AGERELATED at&i Muniertss, E. Heont*s. G. F'escias, D.F. Schorderetsd S&&.1 H6pital Jules Gonin, D6partement d'Ophtalmdogie, Liniversitd de iausanne, Switzerland. 2 Division Autonome de G6n6tiqw M6dicale, Hbpital Cantonal Universitaire, Lausanne, Switzerland. 3 The University of Iowa College of Medicine, Iowa City, USA. Purpose: Age related macular degeneration remains the leading cause of blindness in the Western countries in adults over 65 years of age. For a subgroup of familial macular dystrophies such as Best disease, North Carolina macular dystrophy, pattern dystrophies and 5orsby's fundus dystrophy the genetic defect has been mapped cr klentified. The purpose of this peper is to describe a yet unrecognized autoSomal dominant progressive macular dystrophy, named "Zennatt Macular Dystrophy" after the origin of the affected family, and to procede with a mutational analysis of the known macular genes. Methods: The family was ascertained through the macular clinic at Jules Gonin Eye Hospital in i-ausanne. After informed consent, a comprehensive eye examination, including fluorescein angiogram was performed on every family member at risk of carrying the disease gene. Blond was drawn for DNA extraction and mutational analysis of known macular genes was performed. R&&The four generation Swiss family originated from Zermatt (Valais reaion). Of a total of 51 individuals at risk. 23 were affected. The earlv ph&o&pic changes consisted of central pignwntary alterations during _ addescence followed by multiple druaenokl deposits in the course of the second and third decade. Early symptoms include dyschmmatopsia and Drogressive perifoveal scotomas, ultimatelv leading to the loss of central is& in the `fourth decade due to extensive geogmihical atrophy. The transmission of the disease is autcsomal dominant and Denetrance awaared to be canplete. KLIFFEN LUIDER T.M.' KERKVLIET S.' AND DE JONG P.T.V.M.' ' Institute of Ophthalmology, ' Clinical Genetics, and s Pathology, Erasmus University, Rotterdam, The Netherlands. Purnose, To investigate the presence and localisstion of glycosaminoglycans (GAGS) in human maculae with age-related maculopathy (ARM). Methods, ARM was defined as presence of basal laminar deposit (BLD) and/or drusen in the macula on histology. The presence and localisation of GAGS in 25 pamftin-embedded human maculae were examined immunohistochemicslly with monoclonal antibodies specific for chondroitin+sulfate, heparan sulfate proteoglycan, and keratan sulfate. Furthermore, macular homogenates were separately analysed with tw+ dimensional electmphoresis on cellulose acetate membranes. Quantitative analysis of GAGS was done snectronhotometticallv. &&&, Immunohistochemic~ly, afi BLD stained'positive for chondroitin-4-sulfate, and fccsllv wsitive for hemwan sulfate proteoglycan. Drusen did not s&n with any of the monoclonal antibodies. With two-dimensional electrophoresis it was demonstrated that all macular extracts contained chondroitin sulfate. Heparan sulfate was only expressed in maculae with ARM. The total amount of GAGS in macular extracts with BLD was significantly higher than in maculae without BLD @=O.OOl). There was no relation between the amount of GAGS and drusen. Conclusions. Signiflcsnt differences in amount and composition of GAGS, between maculae with ARM and controls, were demonstrated with these techniques. Furthermore, chondroitin-4-sulfate and heparan sulfate proteoglycsn were detected immunohistochemically in BLD, but not in drusen. OF GLYCOSAMINOGLYCANS MACULAR DEPOSITS M.`HUUMANS J.G.M.2 MOOY C.M.`,' IN No mutation was identified in the known macular genes. conclusions: Zermatt macular dystrophy appsanto be a new macular phenotype for which the genetic defect remains unidentified. A linkage analysis of this family will be the next approach. s153
Vision Research – Elsevier
Published: Oct 1, 1995
It’s your single place to instantly
discover and read the research
that matters to you.
Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.
All for just $49/month
Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly
Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.
Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.
Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.
All the latest content is available, no embargo periods.
“Hi guys, I cannot tell you how much I love this resource. Incredible. I really believe you've hit the nail on the head with this site in regards to solving the research-purchase issue.”Daniel C.
“Whoa! It’s like Spotify but for academic articles.”@Phil_Robichaud
“I must say, @deepdyve is a fabulous solution to the independent researcher's problem of #access to #information.”@deepthiw
“My last article couldn't be possible without the platform @deepdyve that makes journal papers cheaper.”@JoseServera