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Macular deposits in galactokinase deficiency
B L Hodes1, J M Schietroma, S S Lane
1Division of Ophthalmology, Pennsylvania State University Medical School, Milton S. Hershey Medical Center 17033.
Metabolic, Pediatric, and Systemic Ophthalmology (New York, N.Y. : 1985)
|January 1, 1985
Summary
Galactokinase deficiency, typically causing juvenile cataracts, was found in a heterozygous male with high milk intake. This study highlights potential new clinical signs of galactokinase deficiency.
Area of Science:
- Biochemistry
- Genetics
- Ophthalmology
Background:
- Galactokinase deficiency is an autosomal recessive disorder.
- It is primarily known to cause juvenile cataracts in homozygotes.
Observation:
- A heterozygous male with high milk consumption presented with cataracts.
- Bilateral macular deposits were observed in the affected individual.
Findings:
- This is the first reported case of intraretinal deposits in galactokinase deficiency.
- The patient was heterozygous for the enzyme deficiency.
Implications:
- Dietary galactose restriction is advised for all individuals with galactokinase deficiency, including heterozygotes.
- Further research is needed to understand the clinical significance and biochemical basis of these intraretinal deposits.