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  • Certain Corneal Changes in Parents May Help Predict Keratoconus in Offspring

    Cornea/External Disease, Pediatric Ophth/Strabismus, Refractive Mgmt/Intervention

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    Review of: Parental corneal tomographic and biomechanical characteristics of patients with keratoconus

    Li J, Zhang B, Jhanji V, et al. American Journal of Ophthalmology, December 2023

    The results of a small Chinese study suggest that keratoconus may be heritable and identify several subclinical indicators of corneal changes in parents that may predict keratoconus in their children.

    Study Design

    This was a prospective cohort study that involved 44 keratoconus patients seen at Qingdao Eye Hospital in China between August 2019 and May 2023 along with their 88 biological parents. The authors also recruited 84 age- and gender-matched control parents of children without keratoconus. All individuals underwent complete ophthalmic examination, including visual acuity testing, slit-lamp examination, Pentacam tomography (including 9 indices), and Corvis ST (including 21 biomechanical indices).

    Outcomes

    The biological parents of individuals with keratoconus had thinner corneas overall with modified corneal biomechanical properties compared to controls (p < 0.05). The index with the highest predictive power for keratoconus in offspring was the combined Pentacam tomography and biomechanics index, with an area under the curve of 0.785 and specificity of 84.5%. An equation incorporating the combined tomography/biomechanics index, the Corvis biomechanical index, and the thinnest point pachymetry—the top 3 most influential factors—was able to accurately detect cases of keratoconus in offspring over 70% of the time.

    Limitations

    Limitations include the absence of data from genetic screening evaluations, a limited sample size, the need for external validation of the equation created to predict keratoconus in offspring, and the absence of tomographic and biomechanical data from siblings.

    Clinical Significance

    This study illustrates that altered Pentacam readings and biomechanical features are often present in the parents of individuals with keratoconus. Evaluating patients for tomography and biomechanical properties related to subclinical keratoconus may help predict the likelihood of keratoconus in their children.

    Financial Disclosures: Dr. Zeba Syed discloses financial relationships with Recordati Rare Diseases (Consultant/Advisor, Lecture Fees/Speakers Bureau); Dompé, Glaukos (Grant Support); Bio-Tissue (Lecture Fees/Speakers Bureau).