Related Experiment Videos

Choroidal calcification in Bartter syndrome

G Marchini1, R Tosi, B Parolini

  • 1Department of Ophthalmology, University of Verona, Italy. barbagio@hotmail.com

Insights

This study reports a rare case of Bartter syndrome with normal serum calcium and posterior choroidal calcification. This finding expands the understanding of ocular manifestations in Bartter syndrome.

Area of Science:

  • Ophthalmology
  • Nephrology
  • Genetics

Background:

  • Bartter syndrome is a rare genetic disorder affecting renal salt reabsorption.
  • It is characterized by renal juxtaglomerular apparatus hyperplasia, hyperaldosteronism, and hypokalemic alkalosis.
  • Ocular manifestations are not well-documented, presenting diagnostic challenges.

Observation:

  • A 59-year-old male patient with Bartter syndrome presented with bilateral cataracts.
  • Ophthalmic examination revealed multifocal, bilateral choroidal lesions with posterior shadowing via echography.
  • Post-cataract surgery, these lesions were diagnosed as choroidal calcification.

Findings:

  • The case highlights Bartter syndrome associated with normal serum calcium levels.
  • Echography identified characteristic choroidal calcifications in the posterior segment.
  • These calcifications appeared as yellow-white, barely elevated plaques with smooth edges.

Implications:

  • Choroidal calcification is a potential, previously unrecognized complication of Bartter syndrome.
  • This finding necessitates the inclusion of choroidal calcification in the differential diagnosis for posterior segment calcifications.
  • Further research is warranted to elucidate the pathophysiology and prevalence of ocular findings in Bartter syndrome.
Abstract

Related Concept Videos