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Literature DB >> 952824

Ocular findings in a case of fucosidosis.

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.

Entities: Disease

Mesh：

Substances：

Year: 1976 PMID： 952824 PMCID： PMC1017540 DOI： 10.1136/bjo.60.7.508

Source DB: PubMed Journal: Br J Ophthalmol ISSN： 0007-1161 Impact factor: 4.638

7 in total

1. Retinopathy following chloroquine therapy.

Authors: H E HOBBS; A SORSBY; A FREEDMAN
Journal: Lancet Date: 1959-10-03 Impact factor: 79.321

2. Letter: Genetic heterogeneity in fucosidosis.

Authors: R Gatti; C Borrone; X Trias; P Durand
Journal: Lancet Date: 1973-11-03 Impact factor: 79.321

3. Mucopolysaccharidosis by absence of alpha-fucosidase.

Authors: F Van Hoof; H G Hers
Journal: Lancet Date: 1968-06-01 Impact factor: 79.321

4. Acoustic impedance measurements with hard of hearing mentally retarded children.

Authors: J F Borus
Journal: J Ment Defic Res Date: 1972 Sep-Dec

5. Ocular manifestations in angiokeratoma corporis diffusum (Fabry).

Authors: C M Velzeboer; W P de Groot
Journal: Br J Ophthalmol Date: 1971-10 Impact factor: 4.638

6. Fucosidosis: clinical, biochemical, immunologic, and genetic studies in two new cases.

Authors: C Borrone; R Gatti; X Trias; P Durand
Journal: J Pediatr Date: 1974-05 Impact factor: 4.406

7. Fucosidosis: How many cases undetected?

Authors: G B MacPhee; R W Logan; D A Primrose
Journal: Lancet Date: 1975-09-06 Impact factor: 79.321

7 in total

6 in total

1. Bull's-eye maculopathy, negative electroretinogram and low plasma cyclic guanosine monophosphate level. A report of two cases.

Authors: M Kato; I Watanabe
Journal: Doc Ophthalmol Date: 1990-08 Impact factor: 2.379

Ocular findings in a case of fucosidosis.

1. Retinopathy following chloroquine therapy.

2. Letter: Genetic heterogeneity in fucosidosis.

3. Mucopolysaccharidosis by absence of alpha-fucosidase.

4. Acoustic impedance measurements with hard of hearing mentally retarded children.

5. Ocular manifestations in angiokeratoma corporis diffusum (Fabry).

6. Fucosidosis: clinical, biochemical, immunologic, and genetic studies in two new cases.

7. Fucosidosis: How many cases undetected?

1. Bull's-eye maculopathy, negative electroretinogram and low plasma cyclic guanosine monophosphate level. A report of two cases.

2. Fucosidosis: ultrastructural study of the eye in an adult.

3. Paediatric Fabry disease: prognostic significance of ocular changes for disease severity.

4. Ocular findings in a patient with fucosidosis.

5. Longitudinal study on ocular manifestations in a cohort of patients with Fabry disease.

Review 6. Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.