Abstract
We conducted a cross-sectional study of 24 patients with cone dystrophy to investigate a possible link between this disease and deficient activity of α-L-fucosidase. We studied patients with several forms of cone dystrophy, including six with similar clinical characteristics to two patients previously reported to be α-L-fucosidase deficient. Activities for α-L-fucosidase and several other lysosomal enzymes (β-D-glucuronidase, β-D-hexosaminidase (A + B), and α-D-mannosidase) were determined in serum and leukocytes. None of our patients with cone dystrophy were deficient in α-L-fucosidase or any other lysosomal enzyme investigated. No relationship was found between α-L-fucosidase deficiency and any type of cone dystrophy studied.
Original language | English (US) |
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Pages (from-to) | 11-16 |
Number of pages | 6 |
Journal | American journal of ophthalmology |
Volume | 106 |
Issue number | 1 |
DOIs | |
State | Published - 1988 |
Externally published | Yes |
ASJC Scopus subject areas
- Ophthalmology