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| Creator | Title | Description | Subject | Date | ||
|---|---|---|---|---|---|---|
| 1 |
 | Bernstein, Paul S.; Zabriskie, Norman A.; Zhang, Kang; Leppert, Mark F. | Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene | PURPOSE: A 5-bp deletion in ELOVL4, a photoreceptor-specific gene, has been associated with autosomal dominant (ad) macular dystrophy phenotypes in five related families, in which phenotypes range from Stargardt-like macular dystrophy (STGD3; Mendelian Inheritance in Man 600110) to pattern dystrophy... | Linkage (Genetics); Middle Older people; Phenotype | 2001 |
| 2 |
 | Digre, Kathleen B.; Schmidt, Richard H.; Osborne, Anne G.; Patel, Bhupendra C.; Pratt, David; Rietz, Lisa A. | Compressive optic neuropathy caused by renal osteodystrophy. Case report. | Compressive optic neuropathy with acute or chronic vision loss has been associated with various skull base tumors, aneurysms, Graves disease, trauma, and, less commonly, fibrous dysplasia and osteopetrosis. The Author's present a case of acute visual deterioration in a 25-year-old woman who had mass... | Optic Neuropathy; Optic Nerve Decompression; Renal Osteodystrophy | 2001-10 |
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