Keratoconus and Fuchs' Corneal Endothelial Dystrophy in a Patient and her Family

Combined anterior keratoconus and Fuchs' endothelial dystrophy: a report of two cases

“…This is not the first report of combined anterior keratoconus and corneal guttata and we are aware of previous reports. [7][8][9][10][11] Nonetheless, the increasing number of reports on this condition may confirm the assumption that this combination may not be a simple coincidence and consequently may lead to new genetic and molecular investigations to ascertain its pathogenesis as a new disorder.…”

“…The single gene theory can also justify the familial pattern reported by Lipman, Rubenstein and Torczynski. 8 They reported a case of bilateral keratoconus and Fuchs endothelial dystrophy; with keratoconus also found in the patient's son and Fuchs' endothelial dystrophy in the patient's daughter and mother. Although this pattern could be due to co-inheritance of two distinct familial corneal diseases, as suggested by the authors, it could also result from a single gene mutation with complete penetrance but variable expressivity in males and females.…”

“…[2][3][4][5][6][7][8][9][10][11] The majority of the cases described in the literature were bilateral. As both of these disorders showed a high degree of bilaterality, 1 this finding was not unexpected.…”

Unusual association of keratoconus with situs inversus and micronystagmus

“…Lately, a wide range of ocular associations have also been described with mechanical trauma being implicated as an important risk factor, in other words, vernal keratoconjunctivitis3 and floppy eyelid syndrome 4. Other ocular associations described in the literature are Leber's congenital amaurosis,5 retinitis pigmentosa,6 Fuchs corneal dystrophy,7 lattice dystrophy,8 granular dystrophy,9 cataract10 etc.…”

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.…”