Congenital hereditary endothelial dystrophy (CHED) is a rare autosomal recessive disorder of the corneal endothelium characterized by nonprogressive bilateral corneal edema and opacification present at birth. Here we review the current knowledge on the role of the SLC4A11 gene, protein, and its mutations in the pathophysiology and clinical presentation of CHED. Individuals with CHED have mutati...

Three genetic corneal dystrophies [congenital hereditary endothelial dystrophy type 2 (CHED2), Harboyan syndrome and Fuchs endothelial corneal dystrophy] arise from mutations of the SLC4a11 gene, which cause blindness from fluid accumulation in the corneal stroma. Selective transmembrane water conductance controls cell size, renal fluid reabsorption and cell division. All known water-channellin...

BACKGROUND 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. MATERIALS AND METHODS A 45-year-old female, presenting with bilatera...

PURPOSE To investigate morphologic alterations in the limbal palisades of Vogt in a progressive form of limbal stem cell deficiency. METHODS Twenty Norwegian subjects (40 eyes) with congenital aniridia and 9 healthy family members (18 eyes) without aniridia were examined. Clinical grade of aniridia-related keratopathy (ARK) was assessed by slit-lamp biomicroscopy, and tear production and qual...

Purpose To demonstrate clearing of chronic corneal opacities and improvement of visual acuity with the use of BostonSight prosthetic replacement of the ocular surface ecosystem (PROSE) treatment in ocular surface disease. Observations We undertook retrospective analysis of the medical records of a series of patients who underwent PROSE treatment from August 2006 to December 2014. Patients wer...

OBJECTIVES To measure the horizontal corneal diameters in infants at birth and compare with values reported in other studies. DESIGN A cross-sectional hospital based study. SUBJECTS All the healthy infants born within the period of one month in these hospitals were eligible for enrolment into the study. Horizontal corneal diameter measurements were performed with indirect caliper in both ey...

We were very interested to read of a second mutation in the seed region of miR-184 resulting in EDICT syndrome. We were unsure after reading the paper, however, of how the corneal findings should be classified and of the statement that the family “does not demonstrate a keratoconus phenotype.” Keratoconus, the commonest disorder of corneal thinning and steepening, has been linked with VSX1 and ...

PURPOSE Congenital stromal corneal dystrophy (CSCD) is characterized by stromal opacities that morphologically are seen as interlamellar layers of amorphous substance with small filaments, the nature of which has hitherto been unknown. CSCD is associated with truncating mutations in the decorin gene (DCN). To understand the molecular basis for the corneal opacities we analyzed the expression of...

BACKGROUND Aphakic glaucoma is a common complication after congenital cataract extraction, especially in those who have surgery during infancy. This case report describes a case of bilateral pupillary block glaucoma diagnosed with intraoperative ultrasound biomicroscopy (UBM) after removal of congenital cataract. CASE PRESENTATION We present a case report of a 9-month-old infant with bilatera...