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DL Kayser, JL Andorf, CM Taylor, HL Haines, EM Stone; Natural history of patients with Stargardt-Like Dominant Macular Dystrophy associated with recently described ELOVL4 mutations . Invest. Ophthalmol. Vis. Sci. 2002;43(13):3952.
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Purpose: To determine the natural history of patients with ELOVL4-associated Stargardt-Like Dominant Macular Dystrophy. Background: In 1988, we examined a thirty-two member family affected with a condition that ultimately became known as Stargardt-Like Dominant Macular Dystrophy (SLDMD). In 1994, chromosome linkage analysis of this family revealed the disease-causing gene to be located on the long arm of chromosome 6. In 2001, Zhang and co-workers showed that this phenotype is caused by a 5 base-pair deletion in the ELOVL4 gene. Methods: We re-examined nine of the original family members and one newly diagnosed child to document the natural history of the disease over the thirteen years since the family was first examined. The ELOVL4 gene was screened to confirm the presence of the previously reported 5 base-pair deletion in all affected individuals. Results: Fundus examination in the nine follow-up patients revealed enlargement of their central atrophic lesions and an increase in the number of flecks in the macula. The majority of patients over the age of 20 had visual acuities of 20/200 or less. The newly diagnosed 11 year-old patient had best corrected visual acuities of 20/180 OD and 20/150 OS. However, his 62 year-old molecularly affected grandfather had 20/25 vision OU and his 34 year-old mother had acuities of 20/65 OD and 20/63 OS. Conclusion: The natural history of the 5 base-pair mutation in the ELOVL4 gene is early central vision loss followed by progressive enlargement of the zone of macular atrophy and progressive fleck deposition. However, a few patients demonstrate significantly fewer funduscopic abnormalities and better visual acuity suggesting that variations in one or more other genes may be able to modify the phenotypic expression of this mutation.
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