Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences ... Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006).
Late-onset FECD is a common disease of the aging cornea. Corneal degeneration begins with a circumscribed area of central or paracentral cornea guttae and endothelial edema, and progresses with more horizontal than vertical expansion. Epithelial changes are secondary; ... Late-onset FECD is a common disease of the aging cornea. Corneal degeneration begins with a circumscribed area of central or paracentral cornea guttae and endothelial edema, and progresses with more horizontal than vertical expansion. Epithelial changes are secondary; endothelial dystrophy is primary. Most cases were thought to be sporadic, but some reports (Falls, 1968; Cross et al., 1971) suggest autosomal dominant inheritance with greater expression in females. Rosenblum et al. (1980) studied 23 patients and their first-degree relatives and found familial occurrence of corneal changes in 21, strongly corroborating autosomal dominant inheritance for most cases. High penetrance, variable expressivity, and age dependency with increased severity in females were noted. Rosenblum et al. (1980) reported families with male-to-male transmission of FECD. Rosenblum et al. (1980) found a sex ratio close to 1.0 in family studies. Other reports (e.g., Fuchs, 1910; Krachmer et al., 1978) have found an approximately 2.5:1 ratio of affected females to males. Sundin et al. (2006) studied a 4-generation white pedigree in which 20 individuals had late-onset FECD in an autosomal dominant pattern of inheritance. At early to intermediate stages of the disorder, the clinical appearance of the posterior cornea was characterized by large, individual guttae with a distinctive peaked appearance. Those affected in generation 2, who ranged from 74 to 84 years of age, all showed advanced FECD at grades 3 or 4, whereas in generation 3, affected sibs of ages 45 to 64 were typically at grades 1 and 2, with only a few at grades 3 and 4. In 2 exceptional sibships, however, children aged 10 and 13 years had FECD. In each sibship, both parents were found to be affected, but genotype results were not consistent with consanguinity of the parents, who appeared to have independent cases of FECD. Meadows et al. (2009) used retroillumination photography to quantify and document the progression of gutta formation in 13 affected members of the pedigree with late-onset FECD reported by Sundin et al. (2006). There was an increase of 29.1% in the total number of guttae over approximately 30 months, with a mean increase of 669 guttae per eye (p less than 0.001). A rapid rate of progression began at approximately age 50, representing an exponential increase among individuals mildly affected for decades. A significantly greater proportion of guttae were present in the inferotemporal quadrant of the cornea (p less than 0.001), an effect that grew in significance over time. Meadows et al. (2009) noted that 3 individuals with the disease haplotype who had 2 affected parents demonstrated an earlier disease onset.