Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 6, 2019; 7(19): 3012-3017
Published online Oct 6, 2019. doi: 10.12998/wjcc.v7.i19.3012
Keratoconus in a patient with Alport syndrome: A case report
Majid Moshirfar, David F Skanchy, Aaron T Gomez, Yasmyne C Ronquillo, Benjamin Buckner, Phillip C Hoopes
Majid Moshirfar, John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah School of Medicine, Salt Lake City, UT 84101, United States
Majid Moshirfar, Utah Lions Eye Bank, Salt Lake City, UT 84101, United States
Majid Moshirfar, Yasmyne C Ronquillo, Benjamin Buckner, Phillip C Hoopes, Hoopes Durrie Rivera Research Center, Hoopes Vision, Draper, UT 84020, United States
David F Skanchy, Kellogg Eye Center, Department of Ophthalmology, University of Michigan Medical School, Ann Arbor, MI 48103, United States
Aaron T Gomez, The University of Texas Rio Grande Valley School of Medicine, Edinburg, TX 78542, United States
Author contributions: Moshirfar M was the patient’s physician with all authors contributing by reviewing the literature, manuscript drafting, and manuscript revisions. All authors issued final approval for this version to be submitted.
Informed consent statement: Informed consent was obtained from the patient for publication of this report.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Corresponding author: Majid Moshirfar, FACS, MD, Adjunct Professor, Director, Hoopes Durrie Rivera Research Center, Hoopes Vision, 11820 S. State Street Suite No.200, Draper, UT 84020, United States.
Telephone: +1-435-5680200 Fax: +1-435-5630200
Received: May 15, 2019
Peer-review started: May 21, 2019
First decision: July 30, 2019
Revised: September 2, 2019
Accepted: September 9, 2019
Article in press: September 9, 2019
Published online: October 6, 2019

Known ocular manifestations of Alport syndrome include features such as anterior lenticonus and fleck retinopathy. Reports of keratoconus in such patients are limited. We report tomographic findings consistent with keratoconus in a patient with Alport syndrome.


A 52-year-old female was referred to our ophthalmology clinic with decreased vision and increased tearing. She was diagnosed with stage III Alport syndrome two years prior. Upon examination she was found to have average keratometries of 48 D bilaterally with tomographic evidence of keratoconus.


Although a rare presentation, concurrent Alport syndrome and keratoconus should be considered when reviewing the ocular health of Alport syndrome patients and appropriate management steps should be taken upon the diagnosis.

Keywords: Alport syndrome, Keratoconus, Type IV collagen, COL4A genes, Corneal ectasia, Case report

Core Tip: Various ocular manifestations of Alport syndrome have been well described. However, reports of keratoconus in the presence of Alport syndrome is limited in the literature. Keratoconus is a form of corneal ectasia and has shown disorganized and thinning collagen under microscopy. Both Alport syndrome and keratoconus demonstrate collagenous changes which may eventually lead to impaired function of the affected tissue. We present a case of keratoconus in the presence of Alport syndrome.