Open AccessDelayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations
Author(s) -
Babu Lal Kumawat,
Ranjan Gupta,
Aruna Sharma,
Seema Sen,
Viney Gupta,
Radhika Tandon
Publication year - 2016
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/0301-4738.190100
Subject(s) - medicine , compound heterozygosity , ophthalmology , pathology , corneal dystrophy , keratitis , slit lamp , mutation , cornea , gene , genetics , biology
Congenital hereditary endothelial dystrophy (CHED) is an autosomal recessive disorder characterized by bilateral, symmetrical, noninflammatory corneal clouding (edema) present at birth or shortly thereafter. This study reports on an unusual delayed presentation of CHED with compound heterozygous SLC4A11 mutations.