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CUGC for posterior polymorphous corneal dystrophy (PPCD).

Alice E Davidson1, Nathaniel J Hafford-Tear2, Lubica Dudakova3

  • 1UCL Institute of Ophthalmology, London, EC1V 9EL, UK. alice.davidson@ucl.ac.uk.

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|June 16, 2019
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Summary
This summary is machine-generated.

This review assesses DNA testing for posterior polymorphous corneal dystrophy (PPCD) genes OVOL2, ZEB1, and GRHL2. It evaluates the validity and utility of genetic testing for diagnosis and risk assessment in families.

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Area of Science:

  • Ophthalmology
  • Medical Genetics
  • Molecular Diagnostics

Background:

  • Posterior polymorphous corneal dystrophy (PPCD) is a rare inherited eye disorder.
  • Genetic variants in OVOL2, ZEB1, and GRHL2 are associated with different PPCD subtypes.
  • Accurate genetic diagnosis is crucial for patient management and family counseling.

Purpose of the Study:

  • To review the analytical and clinical validity of DNA-based testing for OVOL2, ZEB1, and GRHL2.
  • To evaluate the clinical utility of genetic testing in diagnostic, predictive, and parental settings for PPCD.
  • To assess the role of genetic testing in risk assessment for relatives.

Main Methods:

  • Systematic literature review of studies on OVOL2, ZEB1, and GRHL2 genetic variants in PPCD.
  • Analysis of data regarding the performance of DNA-based tests.
  • Evaluation of clinical utility based on diagnostic yield and impact on patient management.

Main Results:

  • Genetic testing for OVOL2, ZEB1, and GRHL2 demonstrates analytical validity for detecting pathogenic variants.
  • Clinical validity is established for specific variants linked to PPCD subtypes.
  • Clinical utility is demonstrated in confirming diagnoses, guiding treatment, and informing family planning.

Conclusions:

  • DNA-based testing for OVOL2, ZEB1, and GRHL2 is a valuable tool for posterior polymorphous corneal dystrophy diagnosis.
  • Genetic testing supports accurate risk assessment and genetic counseling for affected families.
  • Further research may refine the clinical utility and expand testing indications.