Question

Choose the best method of diagnosis for the clinical sign represented in the image.

• A. Serum copper
• B. Serum ceruloplasmin
• C. Karyotyping
• D. PCR

Answer 1

The Correct Option is B

When attempting to diagnose the clinical sign exhibited in the image, the best approach involves understanding the underlying condition. In ophthalmology, certain visible symptoms in the eyes can be indicative of systemic conditions. For instance, a telltale sign associated with Wilson's disease is the presence of Kayser-Fleischer rings, which are due to copper deposition in the cornea. To confirm such a metabolic disorder involving copper metabolism, measuring levels of substances related to copper transport and excretion is essential.

Among the options provided:

Option	Reason
Serum copper	While elevated in conditions affecting copper metabolism, it is not as specific as ceruloplasmin levels, as copper can be influenced by several other factors.
Serum ceruloplasmin	The most relevant test for Wilson’s disease. Ceruloplasmin is a protein that binds copper in the blood, and its levels are typically low in Wilson's disease, making it a crucial marker for diagnosis.
Karyotyping	Usually utilized for chromosomal abnormalities, not relevant to weight metabolism or enzymatic protein levels.
PCR	Polymerase Chain Reaction is more suited for genetic disorders or infections, not directly applicable for protein level determination related to this condition.

Therefore, to specifically diagnose the likely systemic condition indicated by the ocular symptom, the most appropriate and specific test is measuring serum ceruloplasmin levels, as it directly correlates with the suspected pathology of Wilson's disease.