AIM: We statistically assessed the videokeratographic data obtained from families with keratoconus in order to determine reliable criteria for detecting keratoconus suspects. MATERIAL AND METHODS: Fourteen keratoconus patients from 12 families were enlisted. We investigated 55 relatives (110 eyes). Standard videokeratographic data were obtained by screening 30 individuals (60 eyes) with clinically normal eyes, with no history of ocular disorders, contact lens wear, or keratoconus individuals in their family. Videokeratographic qualitative and quantitative analyses were performed on every subject. The videokeratographic threshold values obtained from the control group were used as a reference. RESULTS: Two criteria based on the Klyce/Maeda indices proved their statistical significance in detecting keratoconus suspects. When considering the significant criteria ascertained by the statistical analysis, building pedigrees favored the autosomal dominant mode of inheritance. Two of the pedigrees corresponded to either a recessive mode of transmission or the potential occurrence of a de novo mutation. CONCLUSION: We have determined videokeratographic criteria of statistical significance for detecting keratoconus suspects. The knowledge of the status of each member of families with keratoconus is a prerequisite to performing genetic linkage analyses, which may allow a precise locus linked with this disorder to be refined.
AIM: We statistically assessed the videokeratographic data obtained from families with keratoconus in order to determine reliable criteria for detecting keratoconus suspects. MATERIAL AND METHODS: Fourteen keratoconus patients from 12 families were enlisted. We investigated 55 relatives (110 eyes). Standard videokeratographic data were obtained by screening 30 individuals (60 eyes) with clinically normal eyes, with no history of ocular disorders, contact lens wear, or keratoconus individuals in their family. Videokeratographic qualitative and quantitative analyses were performed on every subject. The videokeratographic threshold values obtained from the control group were used as a reference. RESULTS: Two criteria based on the Klyce/Maeda indices proved their statistical significance in detecting keratoconus suspects. When considering the significant criteria ascertained by the statistical analysis, building pedigrees favored the autosomal dominant mode of inheritance. Two of the pedigrees corresponded to either a recessive mode of transmission or the potential occurrence of a de novo mutation. CONCLUSION: We have determined videokeratographic criteria of statistical significance for detecting keratoconus suspects. The knowledge of the status of each member of families with keratoconus is a prerequisite to performing genetic linkage analyses, which may allow a precise locus linked with this disorder to be refined.
Authors: Cristina Ariadna Nicula; Adriana Elena Bulboacă; Dorin Nicula; Ariadna Patricia Nicula; Karin Ursula Horvath; Sorana D Bolboacă Journal: Front Med (Lausanne) Date: 2022-05-26
Authors: Petra Liskova; Neil D Ebenezer; Pirro G Hysi; Rhian Gwilliam; Mohamed F El-Ashry; Lalitha C Moodaley; Scott Hau; Michael Twa; Stephen J Tuft; Shomi S Bhatacharya Journal: Mol Vis Date: 2007-10-04 Impact factor: 2.367