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Posterior Polymorphous Corneal Dystrophy Clinical Presentation

  • Author: Mark Ventocilla, OD, FAAO; Chief Editor: Hampton Roy, Sr, MD  more...
Updated: Apr 08, 2015


The clinical findings in patients with PPMD are highly variable, with a broad clinical spectrum of findings, ranging from only occasional Descemet membrane vesicles to progressive debilitating corneal disease with corneal decompensation and glaucoma.

A family history of PPMD should be assessed.

Although most patients with PPMD are asymptomatic, the most common symptoms in those with more significant involvement are as follows:

  • Photophobia
  • Decreased visual acuity
  • Foreign body sensation


The most characteristic finding on slit lamp biomicroscopy is multiple vesicles or blisters, either isolated or grouped in clusters, on the posterior corneal surface. The vesicles often have identifiable surrounding grayish halos. These are often at the level of Descemet membrane and the endothelium, but they can also be seen in the posterior stroma.

Slit lamp biomicroscopy may also identify all or some of the following characteristics depending on the extent of the disease:

  • Posterior corneal opacities occurring in linear bands or other polymorphous configurations with irregular scalloped edges
  • Areas of more diffuse posterior corneal opacities
  • Focal excrescents of the Descemet membrane
  • Iridocorneal adhesions
  • Pupillary ectropion
  • Corectopia
  • Stromal and epithelial edema (advanced cases)
  • Corneal guttae
  • Iridocorneal adhesions (peripheral anterior synechiae)
  • Increased intraocular pressure


The precise etiology of PPMD remains unknown. PPMD is a congenital inherited dystrophy involving abnormalities of the corneal endothelium and the Descemet membrane.[3, 4]

Most cases of PPMD are transmitted in an autosomal dominant fashion with variable expression, although autosomal recessive transmission has also been reported.

A number of autosomal dominant cases of PPMD have been linked to a mutation in an unidentified gene located at band 20q11, whereas other cases have reported a mutation in a gene encoding for collagen VIII located on chromosome 1 (COL8A2) as the cause of PPMD.

In other cases, the genetic locus remains unknown.

PPMD has been associated with other conditions, including the following:

Contributor Information and Disclosures

Mark Ventocilla, OD, FAAO Adjunct Clinical Professor, Michigan College of Optometry; Editor, American Optometric Association Ocular Surface Society Newsletter; Chief Executive Officer, Elder Eye Care Group, PLC; Chief Executive Officer, Mark Ventocilla, OD, Inc; President, California Eye Wear, Oakwood Optical

Mark Ventocilla, OD, FAAO is a member of the following medical societies: American Academy of Optometry, American Optometric Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Christopher J Rapuano, MD Professor, Department of Ophthalmology, Jefferson Medical College of Thomas Jefferson University; Director of the Cornea Service, Co-Director of Refractive Surgery Department, Wills Eye Hospital

Christopher J Rapuano, MD is a member of the following medical societies: American Academy of Ophthalmology, American Ophthalmological Society, American Society of Cataract and Refractive Surgery, Contact Lens Association of Ophthalmologists, International Society of Refractive Surgery, Cornea Society, Eye Bank Association of America

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Cornea Society, Allergan, Bausch & Lomb, Bio-Tissue, Shire, TearScience, TearLab<br/>Serve(d) as a speaker or a member of a speakers bureau for: Allergan, Bausch & Lomb, Bio-Tissue, TearScience.

Chief Editor

Hampton Roy, Sr, MD Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

Fernando H Murillo-Lopez, MD Senior Surgeon, Unidad Privada de Oftalmologia CEMES

Fernando H Murillo-Lopez, MD is a member of the following medical societies: American Academy of Ophthalmology

Disclosure: Nothing to disclose.


Dustin J Coupal, MD, FRCSC Eye Specialist and Surgeon, Private Practice

Dustin J Coupal, MD, FRCSC is a member of the following medical societies: American Academy of Ophthalmology, Canadian Medical Association, Canadian Medical Protective Association, and Canadian Ophthalmological Society

Disclosure: Nothing to disclose.

W Keith Hamilton, MD Clinical Assistant Professor, Department of Ophthalmology, Saskatoon City Hospital Eye Centre

Disclosure: Nothing to disclose.

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Slit lamp image demonstrates posterior corneal vesicles and opacities in linear bands and other polymorphous configurations typical of posterior polymorphous corneal dystrophy.
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