April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Phenotype of a Potential New Corneal Endothelial Dystrophy in the Middle East
Author Affiliations & Notes
  • Ashley Behrens
    King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Ophthalmology, Johns Hopkins Wilmer Eye Inst, Baltimore, MD
  • Hind Alkatan
    King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
  • Footnotes
    Commercial Relationships Ashley Behrens, None; Hind Alkatan, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 1009. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Ashley Behrens, Hind Alkatan; Phenotype of a Potential New Corneal Endothelial Dystrophy in the Middle East. Invest. Ophthalmol. Vis. Sci. 2014;55(13):1009.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract
 
Purpose
 

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.

 
Methods
 

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) .

 
Results
 

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.

 
Conclusions
 

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.

 
 
PAS of a dystrophy case showing a fibrillar layer between Descemet and endothelium, and pigment laden endothelial cells with low cell count. No guttata is seen.
 
PAS of a dystrophy case showing a fibrillar layer between Descemet and endothelium, and pigment laden endothelial cells with low cell count. No guttata is seen.
 
 
PAS of a Descemet membrane obtained from DSAEK in a patient with PEX. Note the significant amount of pseudoexfoliation material on top of the almost absent endothelium. No guttata identified.
 
PAS of a Descemet membrane obtained from DSAEK in a patient with PEX. Note the significant amount of pseudoexfoliation material on top of the almost absent endothelium. No guttata identified.
 
Keywords: 481 cornea: endothelium • 479 cornea: clinical science • 505 edema  
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×