Biometric and molecular characterization of clinically diagnosed posterior microphthalmos

Sawsan R. Nowilaty, Arif O. Khan, Mohammed A. Aldahmesh, Khalid F. Tabbara, Abdullah Al-Amri, Fowzan S. Alkuraya

Research output: Contribution to journalArticlepeer-review

38 Scopus citations


Purpose: To biometrically and molecularly characterize clinically diagnosed posterior microphthalmos. Design: Prospective case series. Methods: Twenty-five affected patients from 13 families diagnosed by ophthalmologists experienced with the condition at the King Khaled Eye Specialist Hospital were studied. All participants underwent axial length measurement, keratometry, corneal pachymetry, and candidate gene analysis (MFRP, PRSS56). Main outcome measures were the results of ocular biometry and gene analysis. Results: All patients (2-47 years of age) had high hyperopia, normal-appearing anterior segments, posterior chamber foreshortening, and characteristic papillomacular folds/wrinkles. For the right eye, mean cycloplegic refraction was +15.09 diopters (D) (range 9.88-18.75). Axial length (mean 16.25 mm [range 14.88-19.88]) had strong inverse correlation (Pearson coefficient -0.88, P

Original languageEnglish (US)
JournalAmerican Journal of Ophthalmology
Issue number2
StatePublished - Feb 2013
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology


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