Dystrophies

Question 1

Epithelial and subepithelial dystrophies

Answer 1

1.Epithelial basement membrane 2.Meesmann 3.Lisch 4.Gelatinous droplike 5.Subepithelial mucinous 6.Recurrent erosions

Question 2

Epithelial-stromal TGFBI dystrophies

Answer 2

1.Reis-Bucklers 2.Thiel-Behnke 3.Lattice 4.Granular

Question 3

Stromal dystrophies

Answer 3

1.Macular 2.Schnyder 3.Congenital stromal 4.Fleck 5.Posterior amorphous 6.Pre-Descemet

Question 4

Endothelial dystrophies

Answer 4

1. Fuchs 2.Posterior polymorphous 3.Congenital hereditary

Question 5

Meesmann

Answer 5

epithelial and subepithelial, AD, 1, intraepithelial cysts, PAS, electron-dense accumulation, peculiar substance, mitoses, early in life, bubblelike, mild ocular irritation, may erosions

Question 6

Lisch

Answer 6

epithelial and subepithelial, XLD, 2, PAS, Ki67, highly
reflective cytoplasm and hyporeflective nuclei, discrete sectorial, band-shaped and feathery gray lesions whorled, flame-shaped. pain free

Question 7

Gelatinous droplike

Answer 7

epithelial and subepithelial, AR, 1, subepithelial and stromal amyloid, Disruption tight junctions, first to second decade, small nodules (mulberry configuration) or with subepithelial lesions, similar to band keratopathy, fluorescein staining, significant decrease in vision, with photophobia, irritation, and tearing, superficial keratectomy, PK/LK but recurr

Question 8

Reis-Bücklers

Answer 8

epithelial-stromal TGFBI, AD, 1, Bowman layer is disrupted or absent and replaced by a
sheetlike connective tissue, Masson trichrome, greater hyperreflectivity than Thiel, first few years of life. Confluent, irregular, and coarse geographic opacities mostly centrally, may extend to limbus, erosions (more than Thiel)

Question 9

Thiel-Behncke

Answer 9

epithelial-stromal TGFBI, AD, 1, curly fibers (no Reis), shadows confo (no Reis), irregular thickening and thinning of the epithelial, The Bowman layer is replaced with fibrocellular material in a pathognomonic wavy, “sawtoothed” pattern. rod-shaped bodies. first or second decade of life as solitary flecks. later ymmetric subepithelial reticular opacities develop in a honeycomb pattern, erosions less than Reis

Question 10

Lattice

Answer 10

epithelial-stromal TGFBI, AD, 1, arborizing amyloid deposits, Epithelial atrophy, eosinophilic layer, orange-red with Congo red dye and metachromatically with crystal violet, dichroism, birefringence. ovoid white dots, and diffuse anterior stromal haze appear early in life, refractile branching lines. start centrally and superficially and spread centrifugally. “ground-glass” appearance, erosions. super keratectomy, PTK, DLAK, PK but recur.

Question 11

Granular type 1

Answer 11

epithelial-stromal TGFBI, AD, 1, hyaline, Masson trichrome, noncollagenous protein, hyperreflective opacities, early in life with crumblike opacities, translucent dots with vacuoles and a glassy splinter or “crushed bread crumb”, do not extend to the limbus but can extend anteriorly, slowly progressive, later erosions. PTK temporarily, DALK or PK good prognosis

Question 12

Granular type 2

Answer 12

Avelino, TGFBI, AD, 1, hyaline deposits typical of granular dystrophy and the amyloid deposits typical of lattice. from the basal epithelium to the deep stroma. Masson trichrome, Congo red stain. rod-shaped bodies. Stellate-shaped, snowflake-like, and icicle-like opacities. mild erosions.

Question 13

Macular

Answer 13

stromal, AR, 1, glycosaminoglycans or acid mucopolysaccharides, stain with colloidal iron and alcian blue, in the endoplasmic reticulum. entire corneal stroma and periphery, and may involve the endothelium. begin to cloud between 3 and
9 years. superficial, irregular, whitish, flecklike opacities
that evolve into focal, gray-white, superficial stromal opacities. progress to involve all layers and extend to the periphery. guttae but edema does not occur. vision decrease. DALK/PK no recur.

Question 14

Schnyder

Answer 14

stromal, AD, 1, local disorder of corneal lipid metabolism, cholesterol and
phospholipids, stain with oil red O and Sudan black B, disruption of the basal epithelial/subepithelial nerve plexus, slowly progressive, second or third decade, ring or disclike central corneal opacification, dense corneal arcus lipoides, midperipheral corneal opacification, sensation decrease, decrease photopic vision, most require DALK/PK

Question 15

Congenital stromal

Answer 15

AD, 1, half collagen fibril diameter, diffuse, bilateral corneal clouding with flakelike, whitish opacities, cornea is not thickened, no or slowly progressive

Question 16

Fleck

Answer 16

François, stromal, AD, 1, excess glycosaminoglycan, which stains with alcian blue and colloidal iron; and lipids, which stain with Sudan black B and oil red O, nonprogressive, congenital or early, Discrete, flat, gray-white, dandrufflike (sometimes ring-shaped) opacities (cała rogówka), uni or bi but asymmetric, symptoms minimal, vision not reduced

Question 17

Posterior amorphous

Answer 17

stromal, AD, 3, Focal attenuation of corneal endothelial cells and irregular stromal architecture anterior to the Descemet, first decade. diffuse, sheetlike, gray-white opacity, usually in the posterior cornea. nonprogressive. flat (<41 D) and thin (as thin as 380 μm).

Question 18

Pre-Descemet

Answer 18

?, Large keratocytes, vacuoles and intracytoplasmic inclusions containing lipidlike material, after 30 years, al fine, polymorphic, gray opacities that may be central, annular, or diffuse, vision normal

Question 19

Fuchs

Answer 19

no, polymegethism, pleomorphism, deposition of collagen and extracellular matrix in the Descemet membrane, which is thickened. reduction in the number of Na+,K+-ATPase pump sites or in pump function. Cornea guttata is first evident centrally and then spreads toward the periphery. “beaten metal”.

Question 20

Posterior polymorphous

Answer 20

AD, 2, endothelial cells have the following features: microvilli, staining for keratin. Descemet-thickening, multilaminated appearance. vesicular lesions and railroad track, bandlike dark areas with irregular edges. broad endothelial bands with scalloped edges. geographic-shaped, discrete, gray lesions. most asymptomatic

Question 21

Congenital hereditary endothelial

Answer 21

AR, 1, diffuse thickening and lamination of the Descemet membrane, with sparse atrophic corneal endothelial cells, nonprogressive. asymmetric clouding and edema. diffuse haze to a ground-glass. Thickening of the cornea (2–3 times normal).