Comment on: Personalized Model to Predict Keratoconus Progression From Demographic, Topographic, and Genetic Data

We read with interest the article on keratoconus progression by Maile et al. 1 Maile HP Li JO Fortune MD et al. Personalized model to predict keratoconus progression from demographic, topographic, and genetic data. Am J Ophthalmol. 2022; 240: 321-329 Abstract Full Text Full Text PDF PubMed Scopus (4) Google Scholar The authors included demographic and topographic information from 8701 eyes with early keratoconus. Genetic information from more than 900 eyes was also analyzed. The researchers found that candidate single-nucleotide polymorphisms associated with keratoconus did not contribute to progression risk. We deem that findings in genetically related connective tissue disorders (such as osteogenesis imperfecta and Marfan syndrome) are very strong arguments against the inheritance of a structural weakness of the cornea alone being capable of generating keratoconus. In these conditions, which are not usually accompanied by ocular rubbing, no corneal steepening has been found despite the collagen alteration. 2 Rabinowitz YS Galvis V Tello A Rueda D García JD. Genetics vs chronic corneal mechanical trauma in the etiology of keratoconus. Exp Eye Res. 2021; 202108328 Crossref Scopus (35) Google Scholar ,3 de Azevedo Magalhães O Gonçalves MC Gatinel D. The role of environment in the pathogenesis of keratoconus. Curr Opin Ophthalmol. 2021; 32: 379-384 Crossref PubMed Scopus (7) Google Scholar On the other hand, the association of keratoconus with Down syndrome and Leber congenital amaurosis, frequently shown as examples of genetic influence in keratoconus, seems to be an epiphenomenon, most likely due to behaviors related to repetitive ocular poking, and rubbing. 3 de Azevedo Magalhães O Gonçalves MC Gatinel D. The role of environment in the pathogenesis of keratoconus. Curr Opin Ophthalmol. 2021; 32: 379-384 Crossref PubMed Scopus (7) Google Scholar There is already an abundant body of evidence suggesting that persistent mechanical micro-trauma may be the key underlying element or even the indispensable factor in triggering corneal distortion in keratoconus. It seems to us that, more than an additional risk factor, it is the point at which other risk factors converge, and then, in reality, ocular rubbing becomes the causal factor of the disease. 2 Rabinowitz YS Galvis V Tello A Rueda D García JD. Genetics vs chronic corneal mechanical trauma in the etiology of keratoconus. Exp Eye Res. 2021; 202108328 Crossref Scopus (35) Google Scholar , 3 de Azevedo Magalhães O Gonçalves MC Gatinel D. The role of environment in the pathogenesis of keratoconus. Curr Opin Ophthalmol. 2021; 32: 379-384 Crossref PubMed Scopus (7) Google Scholar , 4 Gatinel D. Eye rubbing, a sine qua non for keratoconus?. Int J Keratoconus Ectatic Corneal Dis. 2016; 5: 6-12 Crossref Google Scholar , 5 Gatinel D Galvis V Tello A et al. Obstructive sleep apnea-hypopnea syndrome and keratoconus: an epiphenomenon related to sleep position?. Cornea. 2020; 39: e11-e12 Crossref PubMed Scopus (11) Google Scholar Personalized Model to Predict Keratoconus Progression From Demographic, Topographic, and Genetic DataAmerican Journal of OphthalmologyVol. 240PreviewTo generate a prognostic model to predict keratoconus progression to corneal crosslinking (CXL). Full-Text PDF Reply to Comment on: Personalized model to predict keratoconus progression from demographic, topographic and genetic dataAmerican Journal of OphthalmologyVol. 249PreviewWe thank Gatinel et al for their comments on our recent publication of a model to predict keratoconus progression.1 We note their hypothesis that corneal distortion from eye rubbing in susceptible individuals is potentially the final common pathway for developing keratoconus. The implication is that preventing eye rubbing through education could eliminate keratoconus. They considered that the omission of eye rubbing as a potential risk for keratoconus progression from our model was a significant omission. Full-Text PDF