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Keratoconus Genes in Chinese

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Advances in Vision Research, Volume II

Part of the book series: Essentials in Ophthalmology ((ESSENTIALS))

Abstract

Keratoconus is a corneal disease characterized by conical protrusion and progressive thinning of the cornea, resulting in various degrees of visual impairment. Keratoconus affects all ethnic groups, but the prevalence is higher among the Asian populations. The onset of keratoconus is insidious and often occurs during late childhood. Early diagnosis is difficult. If untreated, the disease often progresses irreversibly and can lead to blindness. Nowadays, corneal collagen cross-linking has shown some promising results in retarding or halting keratoconus progression, but currently there is no complete cure. Keratoconus is a multifactorial disease resulting from the interaction of environmental, behavioral, and genetic factors. Its progression has been associated with structural, biochemical, cellular, and molecular alternations in corneal collagen lamellae, higher systemic oxidative stress, and modifications in corneal proteins. However, the etiology of keratoconus remains unclear and the exact regulatory mechanism still elusive. There is evidence of familial aggregation, monozygotic twin concordance, association with other genetic diseases, and the ethnic difference in prevalence and incidences. This chapter attempts to summarize the current knowledge and research of keratoconus epidemiology, pathology, and genetics, with a particular focus for studies in the Chinese population.

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Authors and Affiliations

  1. Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, Kowloon, Hong Kong

    Yu Meng Wang, Ka Wai Kam, Tommy C. Y. Chan, Alvin L. Young, Vishal Jhanji, Guy L. J. Chen & Calvin C. P. Pang

  2. Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Shatin, Hong Kong

    Ka Wai Kam, Alvin L. Young & Guy L. J. Chen

  3. UPMC Eye Center, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA

    Vishal Jhanji

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  1. Yu Meng Wang
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  2. Ka Wai Kam
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  3. Tommy C. Y. Chan
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  4. Alvin L. Young
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  5. Vishal Jhanji
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  6. Guy L. J. Chen
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  7. Calvin C. P. Pang
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Correspondence to Calvin C. P. Pang .

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Editors and Affiliations

  1. National Eye Institute, National Institutes of Health, Bethesda, MD, USA

    Gyan Prakash

  2. National Institute of Sensory Organs Tokyo Medical Center, National Hospital Organization, Tokyo, Japan

    Takeshi Iwata

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Wang, Y.M. et al. (2019). Keratoconus Genes in Chinese. In: Prakash, G., Iwata, T. (eds) Advances in Vision Research, Volume II. Essentials in Ophthalmology. Springer, Singapore. https://doi.org/10.1007/978-981-13-0884-0_35

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  • DOI: https://doi.org/10.1007/978-981-13-0884-0_35

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