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Posterior Amorphous Corneal Dystrophy: New Chromosomal Breakpoints in the Small Leucine-Rich Proteoglycan-Coding

Federico José Basbus1, Federico Andrés Cremona2, Francisco Lucero Saá2

  • 1Department of Ophthalmology, "Hospital de Clínicas," University of Buenos Aires, Argentina; and.

Cornea
|January 19, 2022
PubMed
Summary

A rare genetic corneal disorder, posterior amorphous corneal dystrophy (PACD), presents with stromal opacities and flattening. This case reveals novel 12q21.33 chromosomal breakpoints associated with PACD, identified through advanced imaging and genetic analysis.

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