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Clinical Sciences |

In Vivo Laser Confocal Microscopic Findings of Corneal Stromal Dystrophies FREE

Akira Kobayashi, MD, PhD; Keiko Fujiki, PhD; Takuro Fujimaki, MD, PhD; Akira Murakami, MD, PhD; Kazuhisa Sugiyama, MD, PhD
[+] Author Affiliations

Author Affiliations: Department of Ophthalmology, Kanazawa University Graduate School of Medical Science, Kanazawa (Drs Kobayashi and Sugiyama), and Department of Ophthalmology, Juntendo University School of Medicine, Tokyo (Drs Fujiki, Fujimaki, and Murakami), Japan.


Arch Ophthalmol. 2007;125(9):1168-1173. doi:10.1001/archopht.125.9.1168.
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Published online

Objective  To investigate in vivo laser confocal microscopic findings of genetically mapped corneal stromal dystrophies and their relationship to histopathologic findings.

Methods  Seven patients with Avellino corneal dystrophy, 2 patients with lattice corneal dystrophy, and 2 patients with macular corneal dystrophy were examined genetically and using slitlamp biomicroscopy and in vivo laser confocal microscopy. Corneal specimens obtained after surgery in selected patients were histopathologically studied.

Results  In Avellino corneal dystrophy (Arg124His mutation of human transforming growth factor β–induced gene [TGFBI]), highly reflective granular materials with irregular edges were observed in the superficial stroma. In lattice corneal dystrophy (Arg124Cys and Leu527Arg mutations of TGFBI), highly reflective branching filaments of variable width were observed in the stroma. In macular corneal dystrophy (Ala217Thr mutation of the carbohydrate sulfotransferase gene [CHST6]), homogeneous reflective materials with dark striaelike images were observed throughout the stroma. All confocal findings correlated well with histopathologic findings.

Conclusions  In vivo laser confocal microscopy is capable of high-resolution visualization of characteristic corneal microstructural changes related to 3 types of genetically mapped corneal stromal dystrophies. The use of laser confocal microscopy may be valuable in the differential diagnosis of corneal stromal dystrophies, especially when diagnosis is otherwise uncertain.

Figures in this Article

During the past 2 decades, in vivo white-light confocal microscopy has been a valuable noninvasive technique for the observation of living corneal microstructures at the cellular level.1 Its clinical usefulness has been documented in studies of healthy and diseased human corneas, including granular,2 lattice,2,3 Reis-Bücklers,2 and Thiel-Behnke4 corneal dystrophies.

Recently, in vivo laser confocal microscopy (Heidelberg Retina Tomograph 2 Rostock Cornea Module; Heidelberg Engineering GmbH, Dossenheim, Germany) has become available.5,6 This device permits more detailed layer-by-layer observations of the corneal microstructure with an axial resolution of approximately 4 μm,7 better than that obtained using conventional white-light confocal microscopes (eg, 10-μm axial optical resolution with the ConfoScan 2 [Nidek Technologies, Vigonza, Italy]).8

In this study, we report in vivo microstructural characteristics of 3 genetically mapped corneal stromal dystrophies using in vivo laser confocal microscopy. We also report relationships between in vivo microscopic images and subsequent histopathologic section findings.

The study was approved by the Ethics Committee of Kanazawa University Graduate School of Medical Science and followed the tenets of the Declaration of Helsinki. Before enrollment, written informed consent was obtained from all subjects. The Table summarizes demographic data of the 11 participants.

Table Graphic Jump LocationTable. Eleven Patients From 9 Families With 1 of 3 Corneal Stromal Dystrophies
GENETIC ANALYSIS

Peripheral blood samples were obtained from the patients. Genomic DNA was extracted from peripheral leukocytes. Patients clinically diagnosed as having Avellino or lattice corneal dystrophy underwent genetic analysis of exons 4 and 12 of the human transforming growth factor β–induced gene (TGFBI) as described previously.9 Patients clinically diagnosed as having macular corneal dystrophy had all exons of the carbohydrate sulfotransferase gene (CHST6) analyzed as described previously.10

IN VIVO LASER CONFOCAL MICROSCOPY

After applying a large drop of contact gel (Comfort Gel ophthalmic ointment; Bausch & Lomb, Berlin, Germany) on the front surface of the microscope lens, a sterile cap (TomoCap; Heidelberg Engineering GmbH) was mounted on the holder to cover the microscope lens. Then the centers of the cornea of both eyes were examined layer by layer. The in vivo laser confocal microscopy module uses a × 60 water immersion objective lens (Olympus Europa, Hamburg, Germany) and a 670-nm diode laser as the light source (area of observation, 400 μm × 400 μm).7 Two examinations per eye were performed.

GENETIC ANALYSIS

All 7 patients with Avellino corneal dystrophy had an Arg124His (R124H) heterozygous missense mutation of TGFBI, confirming clinical diagnosis. The 2 patients with lattice corneal dystrophy had an Arg124Cys (R124C [lattice corneal dystrophy type I]) and a Leu527Arg (L527R [lattice corneal dystrophy type IV])11 heterozygous missense mutation of TGFBI, confirming clinical diagnosis. The 2 patients with macular corneal dystrophy had an Ala217Thr (A217T) homozygous missense mutation of CHST6, confirming clinical diagnosis.10

SLITLAMP EXAMINATION

All 7 patients with Avellino corneal dystrophy (patients 1-7) had multiple, discrete, round, sharply demarcated gray-white deposits, as well as scattered stellate opacities (Figure 1A). However, latticelike lines are subtle, and they are not discernible by slitlamp examination in most cases. Areas between dense opacities were clear in all patients. The Descemet membrane and endothelium appeared normal in all patients.

Place holder to copy figure label and caption
Figure 1.

Patient 1 (with Avellino corneal dystrophy). A, Slitlamp photograph reveals round gray-white deposits and scattered stellate opacities in the superficial and middle stroma. B, In anterior cornea tissue, there are clusters of deposits with irregular edges (Azan stain). C, Some deep stromal deposits are positive (arrow) for amyloid stain and show apple-green birefringence under polarized light (inset). D, Laser microscopy of the basal epithelium shows focal deposits of highly reflective material with irregular edges. E, Normal keratocyte nuclei are found in the superficial and middle stroma. F and G, In a different area at the same level, clusters of highly reflective granular materials with irregular edges are seen. H, Oblique section of the superficial layer has highly reflective granular materials just beneath the Bowman layer. Normal subbasal nerves are seen at the Bowman layer. b indicates Bowman layer; e, epithelium; and s, anterior stroma. All are confocal images, 400 × 400 μm (original magnification ×300). Bar indicates 100 μm.

Graphic Jump Location

In the patient with lattice corneal dystrophy type I (patient 8), slitlamp biomicroscopy showed numerous threadlike, radially oriented fine spicules throughout the stroma (Figure 2A). The central anterior stroma of both eyes showed dense opacification. In the patient with lattice corneal dystrophy type IV (patient 9), slitlamp biomicroscopy showed typical thick lattice lines with radial orientation (Figure 3A).

Place holder to copy figure label and caption
Figure 2.

Patient 8 (with lattice corneal dystrophy type I). A, Slitlamp photograph shows superficial punctate keratopathy with central subepithelial and anterior stromal haze. Inset is a retroillumination photograph showing numerous delicate, thin branching lattice lines throughout the stroma. B, In anterior cornea tissue, stromal deposits are positive for amyloid (direct fast scarlet stain). C, Deposits show apple-green birefringence under polarized light. D, In the basal epithelium, irregularity of cells is observed using in vivo laser confocal microscopy. E, Another area in the basal epithelium shows highly reflective reticular extracellular deposits. F, In the Bowman layer, a subbasal nerve is seen in an increased background. G and H, At the levels of the superficial and middle stroma, respectively, highly reflective branching filaments are observed. All are confocal images, 400 × 400 μm (original magnification ×300). Bar indicates 100 μm.

Graphic Jump Location
Place holder to copy figure label and caption
Figure 3.

Patient 9 (with lattice corneal dystrophy type IV). A, Slitlamp photograph shows radially oriented thick lattice lines. B, In anterior cornea tissue, stromal deposits are positive for amyloid (direct fast scarlet stain). C, Deposits show apple-green birefringence under polarized light. D, The basal epithelium appears normal. E, In the Bowman layer, highly reflective deposits are observed using in vivo laser confocal microscopy. F, In the superficial and middle stroma, highly reflective lattice-shaped materials are observed. G, Some stromal images show highly reflective, thick branching deposits. H, Oblique section of the superficial layer shows highly reflective lattice-shaped materials just beneath the Bowman layer. b indicates Bowman layer; e, epithelium; and s, anterior stroma. All are confocal images, 400 × 400 μm (original magnification ×300). Bar indicates 100 μm.

Graphic Jump Location

In the patients with macular corneal dystrophy (patients 10 and 11), slitlamp biomicroscopy showed ground-glass–like haze with indistinct borders throughout the thickness of the cornea. Scattered gray-white lesions were also seen (Figure 4A).

Place holder to copy figure label and caption
Figure 4.

Patient 10 (with macular corneal dystrophy). A, Slitlamp photograph shows anterior and deep stromal opacities with indistinct borders. Some gray-white discrete deposits can be seen in the stroma. B, In anterior cornea tissue, deposits throughout the stroma stain using Alcian blue, representing the presence of mucopolysaccharide deposits. Deposits accumulated in subepithelial locations. C, The superficial epithelium appears normal. D, In the basal epithelium, highly reflective deposits without distinct borders are observed using in vivo laser confocal microscopy. E, In the superficial stroma, highly reflective deposits were also seen. F, In a level of the Bowman layer, subbasal nerves with increased background are observed. G and H, In the superficial and middle stroma, respectively, homogeneous reflective materials with dark striaelike images are observed. Normal keratocytes were not seen. All are confocal images, 400 × 400 μm (original magnification ×300). Bar indicates 100 μm.

Graphic Jump Location
IN VIVO LASER CONFOCAL MICROSCOPY

All 7 patients with Avellino corneal dystrophy had similar images. In the basal epithelial layer, focal deposition of highly reflective granular materials without dark shadows was observed (Figure 1D). At the level of the superficial and middle stroma, clusters of highly reflective granular materials with irregular edges were observed (Figure 1F-H). However, we could not find any confocal images that would correspond to the latticelike lesions because lattice lines are not discernible in patients with Avellino corneal dystrophy. The surrounding stroma and keratocyte nuclei (Figure 1E), as well as the endothelial layer, appeared normal.

In the basal epithelial layer of patient 8 (with lattice corneal dystrophy type I), reticular, highly reflective extracellular deposits were observed (Figure 2E). At the level of the superficial and middle stroma, highly reflective branching filaments were observed (Figure 2G and H). In patient 9 (with lattice corneal dystrophy type IV), highly reflective deposits were observed in the Bowman layer (Figure 3E). In the superficial and middle stroma, highly reflective lattice-shaped materials were seen (Figure 3F and H). Some stromal images showed highly reflective thick, branching deposits (Figure 3G).

In both patients with macular corneal dystrophy (patients 10 and 11), the epithelial layer appeared normal (Figure 4C). In the basal epithelial layer and superficial stroma, highly reflective deposits without distinct borders were observed (Figure 4D and E). Subepithelial nerves can partly be seen at the level of Bowman layer(Figure 4F). In the superficial and middle stroma, homogeneous reflective materials with dark striaelike images were observed (Figure 4G and H). Normal keratocytes were not seen. The endothelial layer appeared normal.

HISTOPATHOLOGIC FINDINGS

In the anterior corneal tissue section from patient 1 (with Avellino corneal dystrophy), clusters of deposits with irregular edges were observed using Azan stain (Figure 1B). Some deep stromal deposits were positive for amyloid (Figure 1C, direct fast scarlet stain), with apple-green birefringence under polarized light (Figure 1C, inset).

In corneal sections from patients 8 and 9 (with lattice corneal dystrophy), anterior stromal deposits were positive for amyloid (Figures 2B and 3B, direct fast scarlet stain). They showed apple-green birefringence under polarized light (Figures 2C and 3C).

In corneal sections from patients 10 and 11 (with macular corneal dystrophy), deposits throughout the anterior stroma were positive for Alcian blue (Figure 4B). This represented the presence of mucopolysaccharide deposits.

In this study, we demonstrate in vivo laser confocal microscopic findings for the first time (to our knowledge) for 3 genetically mapped corneal stromal dystrophies, namely, Avellino, lattice, and macular corneal dystrophies. Characteristic pathologic microstructures were visualized noninvasively and with high resolution. In Avellino corneal dystrophy, highly reflective granular materials with irregular edges were observed in the superficial stroma. In contrast, in lattice corneal dystrophy types I and IV, highly reflective branching filaments were observed in the stroma. In macular corneal dystrophy, homogeneous reflective materials with dark striaelike images were observed throughout the stroma, along with highly reflective deposits in the stroma. Because observations obtained using in vivo laser confocal microscopy are unique to each stromal dystrophy, we conclude that this modality can differentiate these stromal dystrophies in vivo.

In vivo laser confocal microscopic characteristics have recently been reported for the following 2 genetically proven Bowman layer dystrophies: Thiel-Behnke corneal dystrophy (dystrophy of Bowman layer and superficial stroma type II [TGFBIR555Q]) and Reis-Bücklers corneal dystrophy (dystrophy of Bowman layer and superficial stroma type I [TGFBIR124L]).12 In Thiel-Behnke corneal dystrophy, deposits in the epithelial basal cell layer showed homogeneous reflectivity with round-shaped edges accompanying dark shadows. In contrast, deposits in the same cell layer for patients with Reis-Bücklers corneal dystrophy showed high reflectivity from small granular materials without shadows. In each dystrophy, the Bowman layer was totally replaced with pathologic material; reflectivity was much higher in Reis-Bücklers corneal dystrophy than in Thiel-Behnke corneal dystrophy. It was concluded that in vivo laser confocal microscopy can differentiate Thiel-Behnke and Reis-Bücklers corneal dystrophies in vivo; differentiation is impossible using conventional white-light confocal microscopy because of limited resolution.4 The small granular materials with high reflectivity in the epithelial basal layer in Reis-Bücklers corneal dystrophy are similar to those observed in the present study in Avellino corneal dystrophy in shape and laser light reflectivity. Mashima et al investigated histologic features of genetically proven Reis-Bücklers corneal dystrophy and proposed that it is histologically a “superficial variant of granular corneal dystrophy.”13(p92) In contrast, Avellino corneal dystrophy, also referred to as combined granular-lattice corneal dystrophy, is a variant of granular corneal dystrophy that has histologic features of lattice and granular corneal dystrophies.14 Because Avellino and Reis-Bücklers corneal dystrophies have histologic features of granular dystrophy, it is not surprising that they have similar laser confocal images. In vivo laser confocal microscopy is able to differentiate these 2 histologically similar dystrophies because there is no apparent stromal involvement in Reis-Bücklers corneal dystrophy.

In our study, histologic sections from patients with lattice corneal dystrophy showed deposition in the superficial stroma that was positive for amyloid staining and demonstrated apple-green birefringence under polarized light, confirming a previous report.15 Using in vivo laser confocal microscopy, these lattice lines were observed as highly reflective branching filaments, consistent with slitlamp biomicroscopic and histologic findings. A previous in vivo white-light confocal microscopic study2 of lattice corneal dystrophy type I showed punctiform structures and highly reflective irregular materials in the epithelial and Bowman layers, with the stroma containing reflective filaments up to 50 μm in diameter with blurred edges and characteristic reflective branching filaments 80 to 100 μm in diameter. Chiou et al3 reported that white-light confocal microscopy of a cornea with lattice corneal dystrophy revealed linear and branching structures in the stroma measuring approximately 40 to 80 μm in width with changing reflectivity and poorly demarcated margins. These observations are consistent with our findings obtained using in vivo laser confocal microscopy. However, in this study we tested only 1 patient each with lattice corneal dystrophy type I and type IV. Further analysis using multiple patients with lattice corneal dystrophy is required to fully understand the in vivo histologic features of this type of dystrophy, as some corneal dystrophies are known to represent several different phenotypes clinically, even with the same genetic mutation.

Herein, histologic sections from patients with macular corneal dystrophy showed deposits throughout the cornea that were positive for Alcian blue, representing the presence of mucopolysaccharides as previously reported.10 In vivo laser confocal microscopy showed homogeneous reflective materials throughout the stroma (Figure 4G), which may represent the diffuse stromal opacity of macular corneal dystrophy. In contrast, the highly reflective deposits observed in the epithelial basal cell layer and superficial stroma (Figure 4D and E) may correspond to the scattered gray-white discrete deposits as seen using the slitlamp. Numerous dark striaelike images were observed in the stroma in both patients. These striaelike images are not indentation lines from the flat microscope lens cap (TomoCap), as the images were present without any cap pressure. In vivo white-light confocal microscopic observation of similar dark striae was previously reported among stromal materials with high reflectivity in the posterior stroma adjacent to the endothelium in patients with central cloudy dystrophy of François.16 The significance of these dark striae remains unclear.

In conclusion, in vivo laser confocal microscopy is capable of visualizing with high resolution the microstructural changes related to 3 types of genetically mapped corneal stromal dystrophy. These results suggest that this technique may be valuable in the differential diagnosis of corneal stromal dystrophies, particularly when diagnosis is uncertain. It may also be useful for further research into corneal dystrophies, especially to follow their natural courses.

Correspondence: Akira Kobayashi, MD, PhD, Department of Ophthalmology, Kanazawa University Graduate School of Medical Science, 13-1 Takara-machi, Kanazawa-shi, Ishikawa-ken 920-8641, Japan (kobaya@kenroku.kanazawa-u.ac.jp).

Submitted for Publication: January 3, 2007; final revision received February 19, 2007; accepted February 21, 2007.

Author Contributions: Dr Kobayashi had full access to all the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis.

Financial Disclosure: None reported.

Cavanagh  HDPetroll  WMAlizadeh  H  et al.  Clinical and diagnostic use of in vivo confocal microscopy in patients with corneal disease. Ophthalmology 1993;100 (10) 1444- 1454
PubMed Link to Article
Werner  LPWerner  LDighiero  PLegeais  JMRenard  G Confocal microscopy in Bowman and stromal corneal dystrophies. Ophthalmology 1999;106 (9) 1697- 1704
PubMed Link to Article
Chiou  AGBeuerman  RWKaufman  SCKaufman  HE Confocal microscopy in lattice corneal dystrophy. Graefes Arch Clin Exp Ophthalmol 1999;237 (8) 697- 701
PubMed Link to Article
Kobayashi  ASakurai  MShirao  Y  et al.  In vivo confocal microscopy and genotyping of a family with Thiel-Behnke (honeycomb) corneal dystrophy. Arch Ophthalmol 2003;121 (10) 1498- 1499
PubMed Link to Article
Stave  JZinser  GGrummer  GGuthoff  R Modified Heidelberg retinal tomograph HRT: initial results of in vivo presentation of corneal structures [in German]. Ophthalmologe 2002;99 (4) 276- 280
PubMed Link to Article
Kobayashi  AYokogawa  HSugiyama  K In vivo laser confocal microscopy of Bowman's layer of the cornea. Ophthalmology 2006;113 (12) 2203- 2208
PubMed Link to Article
 Heidelberg Retina Tomograph 2 (Rostock Cornea Module) Operating Instructions of Software Version 1.1.  Dossenheim, Germany Heidelberg Engineering GmgH2004;
 Confoscan 2: Operator's Manual.  Vigonza, Italy: Nidek Technologies;2001;
Munier  FLKorvatska  EDjemai  A  et al.  Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 1997;15 (3) 247- 251
PubMed Link to Article
Iida-Hasegawa  NFuruhata  AHayatsu  H  et al.  Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity. Invest Ophthalmol Vis Sci 2003;44 (8) 3272- 3277
PubMed Link to Article
Klintworth  GK Advances in the molecular genetics of corneal dystrophies. Am J Ophthalmol 1999;128 (6) 747- 754
PubMed Link to Article
Kobayashi  ASugiyama  K In vivo laser confocal microscopy findings for Bowman's layer dystrophies (Thiel-Behnke and Reis-Bücklers corneal dystrophies) Ophthalmology 2007;114 (1) 69- 75
PubMed Link to Article
Mashima  YNakamura  YNoda  K  et al.  A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy. Arch Ophthalmol 1999;117 (1) 90- 93
PubMed Link to Article
Folberg  RAlfonso  ECroxatto  JO  et al.  Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits: a study of these families. Ophthalmology 1988;95 (1) 46- 51
PubMed Link to Article
Klintworth  GK Lattice corneal dystrophy: an inherited variety of amyloidosis restricted to the cornea. Am J Pathol 1967;50 (3) 371- 399
PubMed
Kobayashi  ASugiyama  KHuang  AJ In vivo confocal microscopy in patients with central cloudy dystrophy of François. Arch Ophthalmol 2004;122 (11) 1676- 1679
PubMed Link to Article

Figures

Place holder to copy figure label and caption
Figure 1.

Patient 1 (with Avellino corneal dystrophy). A, Slitlamp photograph reveals round gray-white deposits and scattered stellate opacities in the superficial and middle stroma. B, In anterior cornea tissue, there are clusters of deposits with irregular edges (Azan stain). C, Some deep stromal deposits are positive (arrow) for amyloid stain and show apple-green birefringence under polarized light (inset). D, Laser microscopy of the basal epithelium shows focal deposits of highly reflective material with irregular edges. E, Normal keratocyte nuclei are found in the superficial and middle stroma. F and G, In a different area at the same level, clusters of highly reflective granular materials with irregular edges are seen. H, Oblique section of the superficial layer has highly reflective granular materials just beneath the Bowman layer. Normal subbasal nerves are seen at the Bowman layer. b indicates Bowman layer; e, epithelium; and s, anterior stroma. All are confocal images, 400 × 400 μm (original magnification ×300). Bar indicates 100 μm.

Graphic Jump Location
Place holder to copy figure label and caption
Figure 2.

Patient 8 (with lattice corneal dystrophy type I). A, Slitlamp photograph shows superficial punctate keratopathy with central subepithelial and anterior stromal haze. Inset is a retroillumination photograph showing numerous delicate, thin branching lattice lines throughout the stroma. B, In anterior cornea tissue, stromal deposits are positive for amyloid (direct fast scarlet stain). C, Deposits show apple-green birefringence under polarized light. D, In the basal epithelium, irregularity of cells is observed using in vivo laser confocal microscopy. E, Another area in the basal epithelium shows highly reflective reticular extracellular deposits. F, In the Bowman layer, a subbasal nerve is seen in an increased background. G and H, At the levels of the superficial and middle stroma, respectively, highly reflective branching filaments are observed. All are confocal images, 400 × 400 μm (original magnification ×300). Bar indicates 100 μm.

Graphic Jump Location
Place holder to copy figure label and caption
Figure 3.

Patient 9 (with lattice corneal dystrophy type IV). A, Slitlamp photograph shows radially oriented thick lattice lines. B, In anterior cornea tissue, stromal deposits are positive for amyloid (direct fast scarlet stain). C, Deposits show apple-green birefringence under polarized light. D, The basal epithelium appears normal. E, In the Bowman layer, highly reflective deposits are observed using in vivo laser confocal microscopy. F, In the superficial and middle stroma, highly reflective lattice-shaped materials are observed. G, Some stromal images show highly reflective, thick branching deposits. H, Oblique section of the superficial layer shows highly reflective lattice-shaped materials just beneath the Bowman layer. b indicates Bowman layer; e, epithelium; and s, anterior stroma. All are confocal images, 400 × 400 μm (original magnification ×300). Bar indicates 100 μm.

Graphic Jump Location
Place holder to copy figure label and caption
Figure 4.

Patient 10 (with macular corneal dystrophy). A, Slitlamp photograph shows anterior and deep stromal opacities with indistinct borders. Some gray-white discrete deposits can be seen in the stroma. B, In anterior cornea tissue, deposits throughout the stroma stain using Alcian blue, representing the presence of mucopolysaccharide deposits. Deposits accumulated in subepithelial locations. C, The superficial epithelium appears normal. D, In the basal epithelium, highly reflective deposits without distinct borders are observed using in vivo laser confocal microscopy. E, In the superficial stroma, highly reflective deposits were also seen. F, In a level of the Bowman layer, subbasal nerves with increased background are observed. G and H, In the superficial and middle stroma, respectively, homogeneous reflective materials with dark striaelike images are observed. Normal keratocytes were not seen. All are confocal images, 400 × 400 μm (original magnification ×300). Bar indicates 100 μm.

Graphic Jump Location

Tables

Table Graphic Jump LocationTable. Eleven Patients From 9 Families With 1 of 3 Corneal Stromal Dystrophies

References

Cavanagh  HDPetroll  WMAlizadeh  H  et al.  Clinical and diagnostic use of in vivo confocal microscopy in patients with corneal disease. Ophthalmology 1993;100 (10) 1444- 1454
PubMed Link to Article
Werner  LPWerner  LDighiero  PLegeais  JMRenard  G Confocal microscopy in Bowman and stromal corneal dystrophies. Ophthalmology 1999;106 (9) 1697- 1704
PubMed Link to Article
Chiou  AGBeuerman  RWKaufman  SCKaufman  HE Confocal microscopy in lattice corneal dystrophy. Graefes Arch Clin Exp Ophthalmol 1999;237 (8) 697- 701
PubMed Link to Article
Kobayashi  ASakurai  MShirao  Y  et al.  In vivo confocal microscopy and genotyping of a family with Thiel-Behnke (honeycomb) corneal dystrophy. Arch Ophthalmol 2003;121 (10) 1498- 1499
PubMed Link to Article
Stave  JZinser  GGrummer  GGuthoff  R Modified Heidelberg retinal tomograph HRT: initial results of in vivo presentation of corneal structures [in German]. Ophthalmologe 2002;99 (4) 276- 280
PubMed Link to Article
Kobayashi  AYokogawa  HSugiyama  K In vivo laser confocal microscopy of Bowman's layer of the cornea. Ophthalmology 2006;113 (12) 2203- 2208
PubMed Link to Article
 Heidelberg Retina Tomograph 2 (Rostock Cornea Module) Operating Instructions of Software Version 1.1.  Dossenheim, Germany Heidelberg Engineering GmgH2004;
 Confoscan 2: Operator's Manual.  Vigonza, Italy: Nidek Technologies;2001;
Munier  FLKorvatska  EDjemai  A  et al.  Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 1997;15 (3) 247- 251
PubMed Link to Article
Iida-Hasegawa  NFuruhata  AHayatsu  H  et al.  Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity. Invest Ophthalmol Vis Sci 2003;44 (8) 3272- 3277
PubMed Link to Article
Klintworth  GK Advances in the molecular genetics of corneal dystrophies. Am J Ophthalmol 1999;128 (6) 747- 754
PubMed Link to Article
Kobayashi  ASugiyama  K In vivo laser confocal microscopy findings for Bowman's layer dystrophies (Thiel-Behnke and Reis-Bücklers corneal dystrophies) Ophthalmology 2007;114 (1) 69- 75
PubMed Link to Article
Mashima  YNakamura  YNoda  K  et al.  A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy. Arch Ophthalmol 1999;117 (1) 90- 93
PubMed Link to Article
Folberg  RAlfonso  ECroxatto  JO  et al.  Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits: a study of these families. Ophthalmology 1988;95 (1) 46- 51
PubMed Link to Article
Klintworth  GK Lattice corneal dystrophy: an inherited variety of amyloidosis restricted to the cornea. Am J Pathol 1967;50 (3) 371- 399
PubMed
Kobayashi  ASugiyama  KHuang  AJ In vivo confocal microscopy in patients with central cloudy dystrophy of François. Arch Ophthalmol 2004;122 (11) 1676- 1679
PubMed Link to Article

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