Publication: The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy
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Michaelides, M., Gaillard, M. C., Escher, P., Tiab, L., Bedell, M., Borruat, F. X., Barthelmes, D., Carmona, R., Zhang, K., White, E., McClements, M., Robson, A. G., Holder, G. E., Bradshaw, K., Hunt, D. M., Webster, A. R., Moore, A. T., Schorderet, D. F., & Munier, F. L. (2010). The PROM1 mutation p.R373C causes an autosomal dominant bull’s eye maculopathy associated with rod, rod-cone, and macular dystrophy. Investigative Ophthalmology & Visual Science, 51, 4771–4780. https://doi.org/10.1167/iovs.09-4561
Abstract
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PURPOSE: To characterize in detail the phenotype of five unrelated families with autosomal dominant bull's eye maculopathy (BEM) due to the R373C mutation in the PROM1 gene.
METHODS: Forty-one individuals of five families of Caribbean (family A), British (families B, D, E), and Italian (family C) origin, segregating the R373C mutation in PROM1, were ascertained. Electrophysiological assessment, fundus autofluorescence (FAF) imaging, fundus fluorescein angiography (FFA), and optical coherence tomography (OCT) were performed in availab
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- Michaelides, M
- Gaillard, M C
- Escher, P
- Tiab, L
- Bedell, M
- Borruat, F X
- Barthelmes, D
- Carmona, R
- Zhang, K
- White, E
- McClements, M
- Robson, A G
- Holder, G E
- Bradshaw, K
- Hunt, D M
- Webster, A R
- Moore, A T
- Schorderet, D F
- Munier, F L
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Michaelides, M., Gaillard, M. C., Escher, P., Tiab, L., Bedell, M., Borruat, F. X., Barthelmes, D., Carmona, R., Zhang, K., White, E., McClements, M., Robson, A. G., Holder, G. E., Bradshaw, K., Hunt, D. M., Webster, A. R., Moore, A. T., Schorderet, D. F., & Munier, F. L. (2010). The PROM1 mutation p.R373C causes an autosomal dominant bull’s eye maculopathy associated with rod, rod-cone, and macular dystrophy. Investigative Ophthalmology & Visual Science, 51, 4771–4780. https://doi.org/10.1167/iovs.09-4561
