Ординатура / Офтальмология / Английские материалы / Corneal Dystrophies_Lisch, Seitz_2011

indirectly – lattice lines are refractile with a double contour (fig. 4c, d). LCD type 2, a misnomer for the Meretoja syndrome, represents an autosomal dominantly inherited systemic amyloidosis with similar corneal lattice lines as in LCD and variants [6].

f Haab’s striae (congenital glaucoma): directly and indirectly – breaks in Descemet’s membrane in form of single or multiple, elliptical, glassy, parallel ridges on the posterior cornea either peripherally or centrally.

g Scars of Descemet’s membrane after corneal hydrops.

Fleck-Like Opacities

aCogan’s dot-like type of EBMD: directly and indirectly – irregular round, oval, ameboid or putty-gray opacities, mostly in the center of corneal epithelium (fig. 5a).

bGranules of granular corneal dystrophy type 1 (GCD1): directly and indirectly – multiple small crumb-like granules, separated from one another in the center of the anterior corneal stroma (fig. 5b).

fProminent nodular lesions of Salzmann’s degeneration: directly and indirectly – whitish prominent nodular lesions paracentrally at the level of the anterior cornea.

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Fig. 4. a Map-like opacities of EBMD in direct illumination. b Fingerprint-like opacities of EBMD in indirect illumination. c Lattice lines of LCD in direct illumination. d Refractile, lattice lines with a double contour of LCD in indirect illumination.

Unique Opacities

aGeographic-like opacity of Reis-Bücklers corneal dystrophy [8]: directly and indirectly – subepithelial, geographic-like pattern (fig. 5f).

bHoneycomb-like opacity of Thiel-Behnke corneal dystrophy [9]: directly and indirectly – subepithelial, honeycomb-like pattern (fig. 6a).

cDense reticular-like opacity of homozygous GCD2 [10]: directly and indirectly – subepithelial, dense reticular gray-white opacities with several round translucent spaces (fig. 6b).

Crystalline-Like Opacities

aCrystals in Schnyder corneal dystrophy [11]: directly and indirectly – subepithelial central diskor ring-like opacity consisting of crowded, multicolored, needleshaped crystals (fig. 6c); often associated with arcus lipoides.

bCrystals in Bietti’s crystalline dystrophy: directly and indirectly – subepithelial peripheral corneal and retinal crystals.

cCrystals in cystinosis: directly and indirectly – solitary, punctiform, multicolored crystals throughout the whole stroma.

dCrystals in monoclonal gammopathy (monoclonal gammopathy of undetermined significance and malign form) [12]: directly and indirectly – solitary, punctiform, multicolored crystals throughout the stroma, often combined with patch-like or diffuse opacities (fig. 6d).

Anterior Band-Like Opacities

a Secondary band keratopathy in congenital hereditary endothelial dystrophy (CHED) types 1 and 2: rare; indirectly (dilated pupil) – above and below the band diffuse stromal or endothelial changes.

b Secondary band keratopathy in posterior polymorphous corneal dystrophy (PPCD): rare; indirectly (dilated pupil) – above and below the band diffuse stromal or endothelial changes.

cSecondary band keratopathy in X-linked endothelial corneal dystrophy (XECD)

[13](fig. 6e): only in male patients; indirectly (dilated pupil) – above and below the band moon-crater-like endothelial changes.

dBand keratopathy in gelatinous drop-like corneal dystrophy: directly and indirectly – anterior band keratopathy seems to be the most prevalent of this dystrophy. It is unclear if band keratopathy represents a transition to mulberry-like opacity.

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Fig. 5. a Cogan’s dots of EBMD in direct illumination. b Multiple, central granules of GCD1 in direct illumination. c Central stars and rings of GCD2 in direct illumination.

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Fig. 5. d Multiple flecks and diffuse stromal opacity of macular corneal dystrophy in direct illumination. e Mulberry-like opacity of gelatinous drop-like corneal dystrophy in direct illumination. f Geographic-like opacity of Reis-Bücklers corneal dystrophy in direct illumination.

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Fig. 6. a Honeycomb-like opacity of Thiel-Behnke corneal dystrophy in direct illumination (courtesy of J.M. Rohrbach). b Subepithelial, dense reticular opacity of homozygous GCD2 in direct illumination (courtesy of H.U. Moeller). c Central, subepithelial ring consisting of crowded, needle-shaped crystals of Schnyder corneal dystrophy in direct illumination.

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Fig. 6. d Monoclonal gammopathy of undetermined significance: solitary, punctiform and multicolored crystals and patch-like opacity in direct illumination. e Secondary, subepithelial band keratopathy of XECD in direct illumination. f Central, subepithelial diffuse irregular disk of Franceschetti corneal dystrophy in direct illumination

aDiffuse, central disk or patch-like opacity of Franceschetti corneal dystrophy: directly and indirectly – subepithelial central haze or patch-like opacities (fig. 6f)

[14].

bDiffuse, central disk or ring of Schnyder corneal dystrophy [11]: directly and indirectly – subepithelial, central (noncrystalline) milky haze; often associated with arcus lipoides (fig. 2).

cComplete diffuse superficial haze and peripheral ring in lecithin-cholesterol acyltransferase deficiency and fish eye disease (fig. 7a) [15]: directly and indirectly – moderate milky haze and peripheral ring that is not a true arcus lipoides.

dComplete diffuse superficial opacification of mucopolysaccharidoses: directly and indirectly – moderate diffuse haze. Severe extraocular abnormalities.

eEpithelial edema, epithelial bullae and stromal edema in Fuchs endothelial corneal dystrophy: directly and indirectly – epithelial cyst-like changes due to endothelial decompensation (cornea guttata).

Congenital Diffuse Corneal Haze

aComplete stromal haze in CHED types 1 and 2 (CHED2 – autosomal recessive; CHED1 – autosomal dominant): directly and indirectly – severe, ground-glass, milky appearance of the cornea; in CHED1, corneal haze not always congenital but often in the first years; in CHED1, also so-called asymptomatic cases with

endothelial moon-crater-like changes and the possibility of late corneal decompensation; thickening of the cornea; usually no increased corneal diameter.

bComplete stromal haze in PPCD (autosomal dominant): directly and indirectly – ground-glass, milky appearance of the cornea; very rare; in about 15% of cases secondary glaucoma; so-called asymptomatic cases with endothelial band-like

alterations and the possibility of late corneal decompensation.

cComplete stromal haze in XECD [13]: only in male patients; directly and indirectly – ground-glass, milky haze of the cornea; all affected patients without corneal haze disclose moon-crater-like endothelial changes including male patients with secondary band keratopathy.

dCongenital glaucoma: directly and indirectly – diffuse corneal haziness with enlargement of the eye and occurrence of Descemet’s membrane breaks (Haab’s striae); increased corneal diameter.

Posterior Band-Like Opacities

aPosterior ‘railroad tracks’ in PPCD (fig. 7b): directly and indirectly – isolated or multiple posterior bands that can include blister-like lesions combined with varying gray tissue at the level of Descemet’s membrane.

Specific Endothelial Alterations

bPosterior dendritic, boomerang-like, circular, comma-like, linear, filiform (cornea farinata), and crystalline-like opacities of pre-Descemet corneal dystrophy [16,

17]: directly and indirectly – very moderate posterior haze.

cCornea guttata as the compensated stage of Fuchs endothelial corneal dystrophy (fig. 8a): directly and indirectly – regular, multiple drop-like excrescences of Descemet’s membrane (beaten metal), often combined with fine endothelial pigmentations or with patches of pigmentation.