Table 2 of Nowińska, Mol Vis 2011; 17:2333-2342.


Table 2. Summary of genetic, slit lamp microscopy and optical coherence tomography exam results.


Corneal dystrophy
Family
No.
(F1-F15)
Number
of
patients
Exon Nucleotide TGFBI mutation detected Slit lamp exam – corneal morphology Optical coherence tomography - corneal morphology Histology
GCDI F4, F10, F11 14 12 1710C>T R555W Granular crumb-like anterior stromal deposits in the central cornea, with age becoming located deeper in the stroma Focal granular hyperreflective changes in the area of Bowman layer and anterior to mid corneal stroma; with age, during fourth and fifth decade extending to Descemet’s membrane MT+ve (3 corneal buttons from families F4, F10)
GCDII F9 2 4 418G>A R124H Star- and disc- shaped stromal opacities in the central cornea Highly reflective corneal opacities in anterior stroma accompanied with focal, deposits located in the mid stroma CR+ve, MT+ve (1 corneal buton from family F9)
TBCD F8 3 12 1711G>A R555Q Reticular pattern of corneal deposits in the anterior corneal part Increased reflectivity and irregularity in the area of Bowman layer and anterior corneal stroma -
LCDI F1, F3, F5, F6, F12, F13, F14, F15 33 4 417C>T R124C Dots and lattice lines in the anterior to mid stroma in the central cornea Diffuse areas of increased reflectivity in the area of Bowman layer and anterior to mid stroma CR+ve (5 corneal buttons from families F1, F12,F15)
LCD variant F2 4 14 1924A>G H626R Fragile, thin lines located in the central cornea Corneal changes of increased reflectivity located at different depth, from the area of Bowman layer to Descemet’s membrane CR +ve (1 corneal button from family F2)
LCD variant F7 4 14 1924A>G H626R Thick, distinct lines extended from limbus to limbus, accompanied by stromal haze Hyperreflective corneal changes located from anterior to posterior stroma. Some of corneal deposits located deep in the posterior stroma -