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A case series of a specific limbal stem cell deficiency (LSCD) syndrome in patients from northern Chile

Poster Details

First Author: R.Donoso Rojas CHILE

Co Author(s):    C. Bredrup   A. Rodriguez Vega                 

Abstract Details


The limbal stem cells are responsible for maintaining the corneal epithelium and an avascular and smooth corneal surface. Therefore, Limbal Stem Cell Deficiency (LSCD) can produce neovascularization, an irregular corneal surface and a consequent decrease in visual acuity. The etiology of this disease can be genetic mutations that lead to dysfunction or destruction of the limbal stem cells. The purpose of this work is to describe a novel syndrome with LSCD and identify the molecular cause underlying this condition in a group of patients that share common clinical characteristics and origin.


Clinical characterization and genetic study of a series of patients with LSCD that were evaluated between November 2017 and March 2018, in the Ophthalmology Department of Hospital del Salvador, Universidad de Chile, Chile, in collaboration with the Ophthalmology Department of Haukeland University Hospital, Norway.


Prospective analytical study: patients with a similar clinical picture of LSCD were identified and included in the study. Characterization of the symptoms, evolution, findings under slit-lamp microscopy and demographic variables were made. Also a blood sample and skin biopsy were taken for molecular studies.


We identified 6 clinical cases (4 women, 2 men) with median age of 57 years [54.5-58.6 years old]. All patients came from the Antofagasta region (northern Chile) with the main symptom of decrease painless visual acuity, starting in 3/6 patients during childhood. 11/12 eyes presented a severe stage of LSCD, 9 eyes had visual acuity of counting fingers or worse, while 1/12 eyes presented a moderate stage of the disease reaching vision 0.5 (Snellen). Two patients had family members with LSCD.


We present patients with a defined and similar picture of LSCD. Due to the same clinical presentation, associated with common demographic characteristics in all patients, we propose this represent a novel syndrome with LSCD possibly caused by autosomal recessive mutations in a hitherto not identified gene.

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