4122 Zermatt macular dystrophy: a new autosomal dominant phenotype and exclusion of known macular genes

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 ~lesicms and fundus was unaffected. The extent of pigmen 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 ". 4122 Zermatt Macular Dystrophy: a new autosomal dominant phenotype and exclusion of known macular genes. 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 …