Choroidal calcifications in patients with Gitelman's syndrome

Area of Science:

• Ophthalmology
• Nephrology
• Genetics

Background:

• Gitelman syndrome is a genetic renal tubular disorder causing electrolyte imbalances like hypokalemia and hypomagnesemia.
• Characterized by impaired sodium and chloride reabsorption in distal tubules, leading to low calcium excretion.
• Potential ocular manifestations of Gitelman syndrome remain underexplored.

Purpose of the Study:

• To investigate the presence and detection of choroidal calcifications in patients with Gitelman syndrome.
• To evaluate the utility of various ophthalmic imaging techniques in identifying these calcifications.
• To explore the association between Gitelman syndrome's pathophysiology and ocular calcification formation.

Main Methods:

• Ophthalmic examination, fluorescein angiography, indocyanine green angiography, and ocular ultrasonography were performed on five Gitelman syndrome patients.
• Specific focus on identifying calcifications within the choroidal tissue.
• Correlation of ocular findings with clinical presentation and laboratory results, including chondrocalcinosis.

Main Results:

• Choroidal calcifications were detected in two out of five patients using ocular ultrasonography.
• Ophthalmic and fluorescein angiography confirmed calcifications in one of these two patients.
• One patient with choroidal calcifications also presented with chondrocalcinosis.

Conclusions:

• Gitelman syndrome may be associated with the precipitation of calcium salts in the choroidal tissue.
• Ocular ultrasonography is a valuable tool for visualizing these deep ocular calcifications.
• Low calcium excretion in Gitelman syndrome, despite normal intestinal absorption, might predispose individuals to sclerochoroidal calcifications.