Fleck Corneal Dystrophy

In Vivo Confocal Microscopy of Combined Pre-Descemet Membrane Corneal Dystrophy and Fuchs Endothelial Dystrophy

“…In vivo CM of fleck dystrophy is consistent with the slit-lamp biomicroscopic characteristics by demonstrating intracellular hyperreflective dots of various shapes throughout the corneal stroma. 7,8,10,11,15 Our patient showed characteristic clinical and in vivo CM findings compatible with the diagnosis of pre-Descemet dystrophy, except the fact that abnormalities of the corneal endothelium peculiar to Fuchs endothelial dystrophy were also evidenced by in vivo CM.…”

“…2,3,7,8 Differential diagnosis between these entities is not always easy as these corneal dystrophies and degenerations are typically rare disorders where there is a limited availability of corneal tissue for examination at the microscopic level, particularly in the early disease stage. The advent of in vivo CM technology has allowed ophthalmic clinicians and researchers to visualize corneal living tissues at greatly increased resolutions.…”

In Vivo Confocal Microscopy of Combined Pre-Descemet Membrane Corneal Dystrophy and Fuchs Endothelial Dystrophy

“…In vivo CM of fleck dystrophy is consistent with the slit-lamp biomicroscopic characteristics by demonstrating intracellular hyperreflective dots of various shapes throughout the corneal stroma. 7,8,10,11,15 Our patient showed characteristic clinical and in vivo CM findings compatible with the diagnosis of pre-Descemet dystrophy, except the fact that abnormalities of the corneal endothelium peculiar to Fuchs endothelial dystrophy were also evidenced by in vivo CM.…”

“…2,3,7,8 Differential diagnosis between these entities is not always easy as these corneal dystrophies and degenerations are typically rare disorders where there is a limited availability of corneal tissue for examination at the microscopic level, particularly in the early disease stage. The advent of in vivo CM technology has allowed ophthalmic clinicians and researchers to visualize corneal living tissues at greatly increased resolutions.…”

Concomitant Keratoconus and Macular Corneal Dystrophy

“…10 Ocular conditions such as Leber congenital amaurosis, 11 retinitis pigmentosa, 12 vernal keratoconjunctivitis, 13 iridocorneal endothelial syndrome, 14,15 aniridia, and blue sclera 10 have been observed concurrently. Reported associations with corneal dystrophies include granular dystrophy, [16][17][18] posterior polymorphous dystrophy, 14,19,20 fleck dystrophy, 21 Fuchs endothelial dystrophy, 22 and lattice-granular dystrophy. 23 Histopathologic changes include Bowman layer fragmentation, stromal and epithelial thinning, Descemet membrane folding or rupture, and a variable amount of scarring, especially in the anterior stroma.…”

The Genetics and Pathophysiology of IC3D Category 1 Corneal Dystrophies

“…49 The opacities in FCD are the apparent result of keratocytes containing intracytoplasmic vesicles packed with lipids and glycosylaminoglycans. 50 Murine embryonic stem cells deficient in PIKFYVE show enlarged endosomes. 51 Mice deficient in PIKFYVE are embryonic lethal, attributed to the inability of the swollen vacuoles to update essential maternal nutrients in the developing blastocyst.…”

In Vivo Confocal Microscopy of Combined Pre-Descemet Membrane Corneal Dystrophy and Fuchs Endothelial Dystrophy

“…In vivo CM of fleck dystrophy is consistent with the slit-lamp biomicroscopic characteristics by demonstrating intracellular hyperreflective dots of various shapes throughout the corneal stroma. 7,8,10,11,15 Our patient showed characteristic clinical and in vivo CM findings compatible with the diagnosis of pre-Descemet dystrophy, except the fact that abnormalities of the corneal endothelium peculiar to Fuchs endothelial dystrophy were also evidenced by in vivo CM.…”

“…2,3,7,8 Differential diagnosis between these entities is not always easy as these corneal dystrophies and degenerations are typically rare disorders where there is a limited availability of corneal tissue for examination at the microscopic level, particularly in the early disease stage. The advent of in vivo CM technology has allowed ophthalmic clinicians and researchers to visualize corneal living tissues at greatly increased resolutions.…”

Concomitant Keratoconus and Macular Corneal Dystrophy

“…10 Ocular conditions such as Leber congenital amaurosis, 11 retinitis pigmentosa, 12 vernal keratoconjunctivitis, 13 iridocorneal endothelial syndrome, 14,15 aniridia, and blue sclera 10 have been observed concurrently. Reported associations with corneal dystrophies include granular dystrophy, [16][17][18] posterior polymorphous dystrophy, 14,19,20 fleck dystrophy, 21 Fuchs endothelial dystrophy, 22 and lattice-granular dystrophy. 23 Histopathologic changes include Bowman layer fragmentation, stromal and epithelial thinning, Descemet membrane folding or rupture, and a variable amount of scarring, especially in the anterior stroma.…”

The Genetics and Pathophysiology of IC3D Category 1 Corneal Dystrophies

“…49 The opacities in FCD are the apparent result of keratocytes containing intracytoplasmic vesicles packed with lipids and glycosylaminoglycans. 50 Murine embryonic stem cells deficient in PIKFYVE show enlarged endosomes. 51 Mice deficient in PIKFYVE are embryonic lethal, attributed to the inability of the swollen vacuoles to update essential maternal nutrients in the developing blastocyst.…”

In Vivo Confocal Microscopy of Combined Pre-Descemet Membrane Corneal Dystrophy and Fuchs Endothelial Dystrophy

“…In vivo CM of fleck dystrophy is consistent with the slit-lamp biomicroscopic characteristics by demonstrating intracellular hyperreflective dots of various shapes throughout the corneal stroma. 7,8,10,11,15 Our patient showed characteristic clinical and in vivo CM findings compatible with the diagnosis of pre-Descemet dystrophy, except the fact that abnormalities of the corneal endothelium peculiar to Fuchs endothelial dystrophy were also evidenced by in vivo CM.…”

“…2,3,7,8 Differential diagnosis between these entities is not always easy as these corneal dystrophies and degenerations are typically rare disorders where there is a limited availability of corneal tissue for examination at the microscopic level, particularly in the early disease stage. The advent of in vivo CM technology has allowed ophthalmic clinicians and researchers to visualize corneal living tissues at greatly increased resolutions.…”

Concomitant Keratoconus and Macular Corneal Dystrophy

“…10 Ocular conditions such as Leber congenital amaurosis, 11 retinitis pigmentosa, 12 vernal keratoconjunctivitis, 13 iridocorneal endothelial syndrome, 14,15 aniridia, and blue sclera 10 have been observed concurrently. Reported associations with corneal dystrophies include granular dystrophy, [16][17][18] posterior polymorphous dystrophy, 14,19,20 fleck dystrophy, 21 Fuchs endothelial dystrophy, 22 and lattice-granular dystrophy. 23 Histopathologic changes include Bowman layer fragmentation, stromal and epithelial thinning, Descemet membrane folding or rupture, and a variable amount of scarring, especially in the anterior stroma.…”

The Genetics and Pathophysiology of IC3D Category 1 Corneal Dystrophies

“…49 The opacities in FCD are the apparent result of keratocytes containing intracytoplasmic vesicles packed with lipids and glycosylaminoglycans. 50 Murine embryonic stem cells deficient in PIKFYVE show enlarged endosomes. 51 Mice deficient in PIKFYVE are embryonic lethal, attributed to the inability of the swollen vacuoles to update essential maternal nutrients in the developing blastocyst.…”