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