PURPOSE: Fuchs corneal dystrophy (FCD) is a progressive corneal disease marked by the development of guttae, focal excrescences of Descemet's membrane. Retroillumination photography is a useful technique for illuminating the presence of guttae and has been used to document progression of disease. This study was undertaken to quantitatively assess disease progression in a cohort of individuals with late-onset FCD linked to chromosome 13. METHODS: Retroillumination photography was performed on 13 related individuals (26 eyes) with the FCD1 disease haplotype at a 30- to 34-month interval. Individual guttae were counted in each image and the distribution recorded. A polar coordinate system was used to delineate regional differences in development of guttae. RESULTS: An increase of 29.1% was found in the total number of guttae over approximately 30 months (mean increase of 669 guttae/eye, P < 0.001) among 26 eyes. A rapid rate of progression begins at approximately age 50, representing an exponential increase (r(2) = 0.60) among individuals mildly affected for decades. Individuals with the disease haplotype but with two affected parents demonstrated an earlier disease onset. A significantly greater proportion of guttae were present in the inferotemporal quadrant of the cornea (P < 0.001), an effect that grew in significance over time. CONCLUSIONS: The study demonstrated quantitative progression of FCD with the use of retroillumination photography in an FCD1-linked pedigree. Comparison of severity versus age suggests a rapid increase in the number of guttae at approximately age 50. Individuals with the FCD1 disease haplotype and a second likely genetic lesion exhibit a markedly increased disease severity suggestive of genetic interaction between FCD loci.
PURPOSE:Fuchs corneal dystrophy (FCD) is a progressive corneal disease marked by the development of guttae, focal excrescences of Descemet's membrane. Retroillumination photography is a useful technique for illuminating the presence of guttae and has been used to document progression of disease. This study was undertaken to quantitatively assess disease progression in a cohort of individuals with late-onset FCD linked to chromosome 13. METHODS: Retroillumination photography was performed on 13 related individuals (26 eyes) with the FCD1 disease haplotype at a 30- to 34-month interval. Individual guttae were counted in each image and the distribution recorded. A polar coordinate system was used to delineate regional differences in development of guttae. RESULTS: An increase of 29.1% was found in the total number of guttae over approximately 30 months (mean increase of 669 guttae/eye, P < 0.001) among 26 eyes. A rapid rate of progression begins at approximately age 50, representing an exponential increase (r(2) = 0.60) among individuals mildly affected for decades. Individuals with the disease haplotype but with two affected parents demonstrated an earlier disease onset. A significantly greater proportion of guttae were present in the inferotemporal quadrant of the cornea (P < 0.001), an effect that grew in significance over time. CONCLUSIONS: The study demonstrated quantitative progression of FCD with the use of retroillumination photography in an FCD1-linked pedigree. Comparison of severity versus age suggests a rapid increase in the number of guttae at approximately age 50. Individuals with the FCD1 disease haplotype and a second likely genetic lesion exhibit a markedly increased disease severity suggestive of genetic interaction between FCD loci.
Authors: Megan D Louttit; Laura J Kopplin; Robert P Igo; Jeremy R Fondran; Angela Tagliaferri; David Bardenstein; Anthony J Aldave; Christopher R Croasdale; Marianne O Price; George O Rosenwasser; Jonathan H Lass; Sudha K Iyengar Journal: Cornea Date: 2012-01 Impact factor: 2.651
Authors: Mehul Nagarsheth; Annapurna Singh; Brian Schmotzer; Denise C Babineau; Joel Sugar; W Barry Lee; Sudha K Iyengar; Jonathan H Lass Journal: Arch Ophthalmol Date: 2012-11
Authors: Allen O Eghrari; Brian S Garrett; Aisha A Mumtaz; Armand E Edalati; Danielle N Meadows; Elyse J McGlumphy; Benjamin W Iliff; John D Gottsch Journal: Cornea Date: 2015-12 Impact factor: 2.651
Authors: Elyse J McGlumphy; William S Yeo; S Amer Riazuddin; Amr Al-Saif; Jiangxia Wang; Allen O Eghrari; Danielle N Meadows; David G Emmert; Nicholas Katsanis; John D Gottsch Journal: Invest Ophthalmol Vis Sci Date: 2010-09-01 Impact factor: 4.799
Authors: Allen O Eghrari; Aisha A Mumtaz; Brian Garrett; Mahsa Rezaei; Mina S Akhavan; S Amer Riazuddin; John D Gottsch Journal: Cornea Date: 2017-01 Impact factor: 2.651
Authors: Laura J Kopplin; Katie Przepyszny; Brian Schmotzer; Karen Rudo; Denise C Babineau; Sanjay V Patel; David D Verdier; Ula Jurkunas; Sudha K Iyengar; Jonathan H Lass Journal: Arch Ophthalmol Date: 2012-04