Posterior Polymorphous Corneal Dystrophy

Posterior Polymorphous Corneal Dystrophy

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First described by Koeppe, posterior polymorphous corneal dystrophy (PPMD) is a dominantly inherited condition characterized by particular alterations of the Descemet membrane and the corneal endothelium. [1] Typically, the corneal changes are either slowly progressive or nonprogressive. In severe cases, corneal decompensation and edema can occur. Although PPMD is most often a bilateral condition, marked asymmetry in the degree of involvement may be seen. Most persons with PPMD are asymptomatic. See the image below.

Three main abnormalities are described: vesicular changes, endothelial band lesions, and irregular diffuse opacities of the posterior corneal surface involving both the Descemet membrane and the endothelium. The corneal endothelium undergoes a transformation and demonstrates many epithelial characteristics on examination with electron microscopy and immunohistochemical analysis. Often, the endothelium is found to be multilayered. Most patients exhibit vesicular lesions, which are the hallmark of PPMD.

United States

The frequency of PPMD is not well documented. Although it is considered to be uncommon, PPMD may be recognized and diagnosed more often in recent years than in the past.


Liskova et al found that the prevalence of PPCD in the Czech Republic appears to be the highest worldwide. [2]

The effect of PPMD on patients is highly variable, with a broad clinical spectrum of findings, ranging from nonprogressive asymptomatic disease to progressive or advanced debilitating corneal disease with corneal decompensation and glaucoma.

No racial predilection exists.

No sexual predilection exists.

Although PPMD is an autosomal dominantly inherited corneal dystrophy, the age at diagnosis is highly variable because of the broad spectrum of disease severity. Findings may be present at birth. Most patients are first identified at age 30-50 years; however, this is likely only indicative of a more common age for ocular examinations.

Some patients may present at birth with congenital disease, exhibiting advanced disease with corneal edema.

Presentation in adulthood is indicative of a more stable disease state with a decreased probability of progression to corneal decompensation.

Most patients with significant symptoms present at age 25-50 years.

Koeppe L. Klinische Beobachtungen mit der Nerstspaltlampe und dem Hornhautmikroskop. Albrecht von Graefe’s Arch Klin Exp Ophthalmol. 1916. 91:375-379.

Liskova P, Gwilliam R, Filipec M, Jirsova K, Reinstein Merjava S, Deloukas P, et al. High prevalence of posterior polymorphous corneal dystrophy in the czech republic; linkage disequilibrium mapping and dating an ancestral mutation. PLoS One. 2012. 7(9):e45495. [Medline]. [Full Text].

Liskova P, Palos M, Hardcastle AJ, Vincent AL. Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3. JAMA Ophthalmol. 2013 Oct. 131(10):1296-303. [Medline].

Bakhtiari P, Frausto RF, Roldan AN, Wang C, Yu F, Aldave AJ. Exclusion of pathogenic promoter region variants and identification of novel nonsense mutations in the zinc finger E-box binding homeobox 1 gene in posterior polymorphous corneal dystrophy. Mol Vis. 2013. 19:575-80. [Medline]. [Full Text].

Bozkurt B, Irkec M, Mocan MC. In vivo confocal microscopic findings in posterior polymorphous corneal dystrophy. Cornea. 2013 Sep. 32(9):1237-42. [Medline].

Bromley JG, Randleman JB, Stone D, Stulting RD, Grossniklaus HE. Clinicopathologic findings in iridocorneal endothelial syndrome and posterior polymorphous membranous dystrophy after Descemet stripping automated endothelial keratoplasty. Cornea. 2012 Sep. 31(9):1060-4. [Medline].

Studeny P, Jirsova K, Kuchynka P, Liskova P. Descemet membrane endothelial keratoplasty with a stromal rim in the treatment of posterior polymorphous corneal dystrophy. Indian J Ophthalmol. 2012 Jan-Feb. 60(1):59-60. [Medline].

Merjava S, Malinova E, Liskova P, Filipec M, Zemanova Z, Michalova K, et al. Recurrence of posterior polymorphous corneal dystrophy is caused by the overgrowth of the original diseased host endothelium. Histochem Cell Biol. 2011 Jul. 136(1):93-101. [Medline].

Moshirfar M, Barsam CA, Tanner MC. Laser in situ keratomileusis in patients with posterior polymorphous dystrophy. Cornea. 2005 Mar. 24(2):230-2. [Medline].

Todo et al. Photorefractive keratectomy in posterior polymorphous dystrophy; abstract presented at ASCRS 2010. [Full Text].

Anderson NJ, Badawi DY, Grossniklaus HE, Stulting RD. Posterior polymorphous membranous dystrophy with overlapping features of iridocorneal endothelial syndrome. Arch Ophthalmol. 2001 Apr. 119(4):624-5. [Medline].

Bechara SJ, Grossniklaus HE, Waring GO, Wells JA 3rd. Keratoconus associated with posterior polymorphous dystrophy. Am J Ophthalmol. 1991 Dec 15. 112(6):729-31. [Medline].

Boruchoff SA, Weiner MJ, Albert DM. Recurrence of posterior polymorphous corneal dystrophy after penetrating keratoplasty. Am J Ophthalmol. 1990 Mar 15. 109(3):323-8. [Medline].

Brooks AM, Grant G, Gillies WE. Differentiation of posterior polymorphous dystrophy from other posterior corneal opacities by specular microscopy. Ophthalmology. 1989 Nov. 96(11):1639-45. [Medline].

Chiou AG, Kaufman SC, Beuerman RW, et al. Confocal microscopy in posterior polymorphous corneal dystrophy. Ophthalmologica. 1999. 213(4):211-3. [Medline].

Colville DJ, Savige J. Alport syndrome. A review of the ocular manifestations. Ophthalmic Genet. 1997 Dec. 18(4):161-73. [Medline].

Krachmer, Mannis, Holland, eds. Cornea. 1997. Volume II: 1063-73.

Grupcheva CN, Chew GS, Edwards M, et al. Imaging posterior polymorphous corneal dystrophy by in vivo confocal microscopy. Clin Experiment Ophthalmol. 2001 Aug. 29(4):256-9. [Medline].

Henriquez AS, Kenyon KR, Dohlman CH, et al. Morphologic characteristics of posterior polymorphous dystrophy. A study of nine corneas and review of the literature. Surv Ophthalmol. 1984 Sep-Oct. 29(2):139-47. [Medline].

Klintworth GK. The molecular genetics of the corneal dystrophies–current status. Front Biosci. 2003 May 1. 8:d687-713. [Medline].

Krachmer JH. Posterior polymorphous corneal dystrophy: a disease characterized by epithelial-like endothelial cells which influence management and prognosis. Trans Am Ophthalmol Soc. 1985. 83:413-75. [Medline].

Laganowski HC, Sherrard ES, Muir MG, Buckley RJ. Distinguishing features of the iridocorneal endothelial syndrome and posterior polymorphous dystrophy: value of endothelial specular microscopy. Br J Ophthalmol. 1991 Apr. 75(4):212-6. [Medline].

Moroi SE, Gokhale PA, Schteingart MT, et al. Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy. Am J Ophthalmol. 2003 Apr. 135(4):461-70. [Medline].

Presberg SE, Quigley HA, Forster RK, Green WR. Posterior polymorphous corneal dystrophy. Cornea. 1985-86. 4(4):239-48. [Medline].

Teekhasaenee C, Nimmanit S, Wutthiphan S, et al. Posterior polymorphous dystrophy and Alport syndrome. Ophthalmology. 1991 Aug. 98(8):1207-15. [Medline].

Weissman BA, Ehrlich M, Levenson JE, Pettit TH. Four cases of keratoconus and posterior polymorphous corneal dystrophy. Optom Vis Sci. 1989 Apr. 66(4):243-6. [Medline].

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.

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, Sidney Kimmel 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, Cornea Society, Eye Bank Association of America, International Society of Refractive Surgery

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Cornea Society, AAO, OMIC, Allergan; Avedro; Bio-Tissue; GSK, Novartis; Shire; Sun Ophthalmics; TearLab<br/>Serve(d) as a speaker or a member of a speakers bureau for: Avedro; Bio-Tissue; Shire.

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.

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.

Posterior Polymorphous Corneal Dystrophy

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