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Punctate lenticular opacities in type II mannosidosis
American Journal of Ophthalmology
|February 1, 1978
Summary
Mannosidosis patients, particularly Type II, may exhibit unique lens opacities. Comprehensive eye exams can aid in identifying genetic variants of this rare lysosomal storage disorder.
Area of Science:
- Biochemistry
- Genetics
- Ophthalmology
Background:
- Mannosidosis is a rare lysosomal storage disorder.
- It results from deficient activity of alpha-mannosidase.
- Ocular manifestations are known but vary in presentation.
Observation:
- Four siblings with Type II mannosidosis underwent ocular examination.
- Scattered punctate opacities were observed throughout the lens in all four siblings.
Findings:
- These specific lenticular opacities were not previously documented in 28 reported cases (17 Type II, 11 Type I).
- This suggests a potentially novel ocular phenotype for Type II mannosidosis.
Implications:
- Detailed ocular examinations, including lens and cornea assessment, are crucial.
- Such examinations may reveal additional phenotypic data for identifying genetic variants in mannosidosis.
- This could improve diagnostic accuracy and understanding of the disease spectrum.