Purpose: To characterize the phenotype of Reis-Bücklers corneal dystrophy (RBCD) using in vivo and ex vivo imaging techniques. Methods: Five RBCD patients with penetrating keratoplasty (PK) were enrolled. Before surgery, all patients underwent a complete ophthalmological examination including slitlamp biomicroscopy, in vivo confocal microscopy (IVCM) and anterior segment (AS) optical coherence tomography (OCT). After PK, corneal buttons were examined by light and transmission electron microscopy (TEM). Correlations between in vivo and ex vivo images were analyzed. Results: In all cases, irregular geographic-like subepithelial gray-white opacities were observed in the central and mid-peripheral cornea. AS-OCT images of the cornea of all patients revealed hyperreflective homogeneous and continuous deposits concentrated at the level of Bowman's layer and anterior stroma. Using IVCM, a highly reflective irregular amorphous material was observed from intermediate epithelial cells to the anterior stroma. Sparse deposits of highly reflective material were also detected in the posterior stroma. TEM showed in all specimens basal epithelial cells containing small vesicles with rod-shaped dense material. Conclusions: IVCM and AS-OCT may be a useful adjunct to biomicroscopy for the diagnosis and management of RBCD. The correlations between the different in vivo and ex vivo imaging techniques emphasize the hypothesis of an epithelial origin for RBCD.

Keywords:
Reis-Bücklers corneal dystrophy, In vivo confocal microscopy, Anterior segment optical coherence tomography, Histology, Transmission electron microscopy, Epithelium, Cornea
1.
Li D, Qi Y, Wang L, et al: An atypical phenotype of Reis-Bucklers corneal dystrophy caused by the G623D mutation in TGFBI. Mol Vis 2008;14:1298-1302.
2.
Cho KJ, Mok JW, Na KS, et al: TGFBI gene mutations in a Korean population with corneal dystrophy. Mol Vis 2012;18:2012-2021.
3.
Klintworth GK: Corneal dystrophies. Orphanet J Rare Dis 2009;4:7.
4.
Ridgway AE, Akhtar S, Munier FL, et al: Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: an epithelial origin? Invest Ophthalmol Vis Sci 2000;41:3286-3292.
5.
Weiss JS, Moller HU, Lisch W, et al: The IC3D classification of the corneal dystrophies. Cornea 2008;27(suppl 2):S1-S83.
6.
Werner LP, Werner L, Dighiero P, et al: Confocal microscopy in Bowman and stromal corneal dystrophies. Ophthalmology 1999;106:1697-1704.
7.
Shukla AN, Cruzat A, Hamrah P: Confocal microscopy of corneal dystrophies. Semin Ophthalmol 2012;27:107-116.
8.
Simpson T, Fonn D: Optical coherence tomography of the anterior segment. Ocul Surf 2008;6:117-127.
9.
Kobayashi A, Sugiyama K: In vivo laser confocal microscopy findings for Bowman's layer dystrophies (Thiel-Behnke and Reis-Bucklers corneal dystrophies). Ophthalmology 2007;114:69-75.
10.
Kobayashi A, Fujiki K, Fujimaki T, et al: In vivo laser confocal microscopic findings of corneal stromal dystrophies. Arch Ophthalmol 2007;125:1168-1173.
11.
Miura M, Mori H, Watanabe Y, et al: Three-dimensional optical coherence tomography of granular corneal dystrophy. Cornea 2007;26:373-374.
12.
Liang Q, Sun X, Jin X: TGFBI gene mutation in a Chinese pedigree with Reis-Bucklers corneal dystrophy. Ophthalmic Physiol Opt 2012;32:74-80.
13.
Labbe A, Nicola RD, Dupas B, et al: Epithelial basement membrane dystrophy: evaluation with the HRT II Rostock Cornea Module. Ophthalmology 2006;113:1301-1308.
14.
Niederer RL, McGhee CN: Clinical in vivo confocal microscopy of the human cornea in health and disease. Prog Retin Eye Res 2010;29:30-58.
15.
Labbe A, Kallel S, Denoyer A, et al: Corneal imaging. J Fr Ophtalmol 2012;35:628-634.
16.
Vemuganti GK, Rathi VM, Murthy SI: Histological landmarks in corneal dystrophy: pathology of corneal dystrophies. Dev Ophthalmol 2011;48:24-50.
17.
Niederer RL, Sherwin T, McGhee CN: In vivo confocal microscopy of subepithelial infiltrates in human corneal transplant rejection. Cornea 2007;26:501-504.
18.
Moller HU: Granular corneal dystrophy Groenouw type I (GrI) and Reis-Bucklers' corneal dystrophy (R-B). One entity? Acta Ophthalmol (Copenh) 1989;67:678-684.
19.
Akhtar S, Meek KM, Ridgway AE, et al: Deposits and proteoglycan changes in primary and recurrent granular dystrophy of the cornea. Arch Ophthalmol 1999;117:310-321.
20.
Thoft RA, Friend J: The X, Y, Z hypothesis of corneal epithelial maintenance. Invest Ophthalmol Vis Sci 1983;24:1442-1443.
21.
Majo F, Rochat A, Nicolas M, et al: Oligopotent stem cells are distributed throughout the mammalian ocular surface. Nature 2008;456:250-254.
22.
Catanese M, Popovici C, Proust H, et al: Fluorescent in situ hybridization (FISH) on corneal impression cytology specimens (CICS): study of epithelial cell survival after keratoplasty. Invest Ophthalmol Vis Sci 2011;52:1009-1013.
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2014
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