Abstract
The ocular findings in a case of fucosidosis are described and the differential diagnosis is discussed. It is suggested that the level of alpha-L-fucosidase should be estimated in cases of bull's eye retinopathy.
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- Borrone C., Gatti R., Trias X., Durand P. Fucosidosis: clinical, biochemical, immunologic, and genetic studies in two new cases. J Pediatr. 1974 May;84(5):727–730. doi: 10.1016/s0022-3476(74)80019-3. [DOI] [PubMed] [Google Scholar]
- Borus J. F. Acoustic impedance measurements with hard of hearing mentally retarded children. J Ment Defic Res. 1972 Sep-Dec;16(3):196–202. [PubMed] [Google Scholar]
- Gatti R., Borrone C., Trias X., Durand P. Letter: Genetic heterogeneity in fucosidosis. Lancet. 1973 Nov 3;302(7836):1024–1024. doi: 10.1016/s0140-6736(73)91112-4. [DOI] [PubMed] [Google Scholar]
- HOBBS H. E., SORSBY A., FREEDMAN A. Retinopathy following chloroquine therapy. Lancet. 1959 Oct 3;2(7101):478–480. doi: 10.1016/s0140-6736(59)90604-x. [DOI] [PubMed] [Google Scholar]
- MacPhee G. B., Logan R. W., Primrose D. A. Fucosidosis: How many cases undetected? Lancet. 1975 Sep 6;2(7932):462–463. doi: 10.1016/s0140-6736(75)90883-1. [DOI] [PubMed] [Google Scholar]
- Van Hoof F., Hers H. G. Mucopolysaccharidosis by absence of alpha-fucosidase. Lancet. 1968 Jun 1;1(7553):1198–1198. doi: 10.1016/s0140-6736(68)91895-3. [DOI] [PubMed] [Google Scholar]
- Velzeboer C. M., de Groot W. P. Ocular manifestations in angiokeratoma corporis diffusum (Fabry). Br J Ophthalmol. 1971 Oct;55(10):683–692. doi: 10.1136/bjo.55.10.683. [DOI] [PMC free article] [PubMed] [Google Scholar]





