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Ashley Behrens, Hind Alkatan; Phenotype of a Potential New Corneal Endothelial Dystrophy in the Middle East. Invest. Ophthalmol. Vis. Sci. 2014;55(13):1009.
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To describe and compare the clinical findings/histopathology features of a series of patients with a potentially newly identified corneal endothelial cell dystrophy with distinct features.
Corneal specimens were obtained from penetrating keratoplasty/Descemet’s membrane samples with clinical diagnosis of primary corneal decompensation (n=9). Cases with previous surgery or a clinical diagnosis of eye disease (corneal dysgenesis or ICE) were excluded. Histopathologic findings of specimens were compared to patients with documented clinical diagnosis of pseudoexfoliation keratopathy (PEX) (n=4) .
13 specimens with corneal decompensation were reviewed, none showed histopathologic features of Fuchs (no guttata). 4 cases had history of PEX and showed findings matching stage 1 PEX as described by Naumann et al. in year 2000. However, 9 cases shared a unique appearance with a thin fibrillar layer between Descemet and endothelium, along with significantly low endothelial cell counts. Endothelial cells were enlarged, presenting flattened nuclei with or without pigment deposits. Polymegathism, pleomorphism and low cell counts were identified at specular microscopy. In this group, left eye was more affected in 2/3, male to female was 5:4, and age of onset was 55-82 with a mean of 67. In the PEX cases, both eyes were equally affected, male to female was 3:1 and the age of onset was 66-77 with a mean of 73.
This appears to be a new primary endothelial dystrophy with distinct clinical and histopathological features different from Fuchs dystrophy or PEX keratopathy. Affected patients have gradual endothelial cell loss without guttata in the absence of previous surgery or concomitant eye disease. Pedigree and genotype studies are underway in the families affected by this condition.
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