Analysis of conjunctival fibroblasts from a proband with Schnyder corneal dystrophy.
OBJECTIVE
To analyze for the presence of lipids in conjunctival fibroblasts of a patient with Schnyder corneal dystrophy (SCD).


METHODS
A proband with SCD was identified, and the pedigree was examined. The proband underwent an automated lamellar therapeutic keratoplasty (ALTK). At the same time, the proband underwent a skin and conjunctival biopsy. Specimens were sent for histological and ultrastructural examination. Conjunctival fibroblasts were cultured from the biopsy specimen and stained with filipin.


RESULTS
The proband showed no evidence of recurrence following the ALTK procedure. Histopathological examination showed no evidence of hydrophobic lipids in the conjunctival or dermal fibroblasts. Lipid particles were detected in the cornea. Ultrastructural examination showed no lipid particles in the conjunctival fibroblasts. Cultured fibroblasts showed no evidence of intracellular unesterified cholesterol unless low density lipoprotein (LDL) was added to the culture medium.


CONCLUSIONS
There was no evidence of lipid deposition in conjunctival or skin fibroblasts in our patient with SCD. The evidence suggests local factors are responsible for the lipid deposition in the cornea.
Mehta
Jodhbir S
JS
Singapore Eye Research Institute, Singapore; 2Singapore National Eye Centre, Singapore.
Vithana
Eranga N
EN
Venkataraman
Divya
D
Venkatraman
Anandalakshmi
A
Poh
Rebekah
R
Beuerman
Roger W
RW
Aung
Tin
T
Tan
Donald T H
DT
D000328:Adult; D001706:Biopsy; D002478:Cells, Cultured; D002788:Cholesterol Esters / Q000378:metabolism; D003228:Conjunctiva / Q000473:pathology* / Q000648:ultrastructure; D003317:Corneal Dystrophies, Hereditary / Q000473:pathology*; D005260:Female; D005347:Fibroblasts / Q000473:pathology* / Q000648:ultrastructure; D006801:Humans; D008297:Male; D046529:Microscopy, Electron, Transmission; D010375:Pedigree; D012867:Skin / Q000473:pathology
D002788:Cholesterol Esters