Peters Anomaly 

  • Author: Guruswami Giri, MD, FRCS; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: Feb 15, 2012
 

Background

Peters anomaly is a rare form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Involving the central or entire cornea, Peters anomaly is divided into 2 types depending on whether or not the lens is abnormal. Peters anomaly may have an inherited pattern. Mutations involve the PAX6 gene.[1] Peters anomaly may also be associated with other ocular or systemic abnormalities.[2]

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Pathophysiology

In Peters anomaly, central or paracentral corneal opacity is present. In some cases, this opacity may involve the entire cornea. In type 1, the lens may or may not be cataractous; however, the lens does not adhere to the cornea. In type 2, the lens is cataractous and adheres to the cornea.[3, 4]

Peters anomaly may be associated with other abnormalities of the eye, including myopia, aniridia, coloboma of the iris,[5] choroid, microphthalmos, persistent hyperplasia of primary vitreous (PHPV), and optic disk hypoplasia.

Systemic associations with Peters anomaly include trisomy 13-15, partial deletion of chromosome arm 11q, and Norrie disease. In Krause-Kivlin syndrome, the patient is of short stature with developmental delay and facial dysmorphism. Peters plus syndrome is characterized by genitourinary abnormalities; syndactyly; brachycephaly; and cardiac, neural, and hearing abnormalities.[6] Bilateral Peters anomaly was reported in an infant with 49XXXXY syndrome.

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Epidemiology

Frequency

United States

The incidence rate in the United States is unknown (very rare).

International

The incidence rate throughout the world is unknown (very rare).

Mortality/Morbidity

In addition to corneal opacity and cataract, glaucoma may increase morbidity.

Mortality may be increased because of other systemic involvement, especially cardiac anomalies.

Race

Peters anomaly occurs in all races. No known racial predilection exists.

Sex

No known sexual predilection exists.

Age

Peters anomaly is manifested in utero during the first trimester of pregnancy (10-16 wk) and, therefore, is noted at birth. The anterior segment is formed completely by the 10th week, and, by the 16th week, most of the Descemet membrane is formed.

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Contributor Information and Disclosures
Author

Guruswami Giri, MD, FRCS  Vitreo-Retinal Surgeon, Department of Ophthalmology, Permanente Medical Group of Sacramento, CA

Guruswami Giri, MD, FRCS is a member of the following medical societies: American Academy of Ophthalmology, Royal College of Ophthalmologists, and Royal College of Surgeons of Edinburgh

Disclosure: Nothing to disclose.

Specialty Editor Board

Brian A Phillpotts, MD  Former Vitreo-Retinal Service Director, Former Program Director, Clinical Assistant Professor, Department of Ophthalmology, Howard University College of Medicine

Brian A Phillpotts, MD is a member of the following medical societies: American Academy of Ophthalmology, American Diabetes Association, American Medical Association, and National Medical 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: Medscape Salary Employment

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 Institute

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

Disclosure: Allergan Honoraria Speaking and teaching; Allergan Consulting fee Consulting; Alcon Honoraria Speaking and teaching; RPS Ownership interest Other; EyeGate Pharma Consulting fee Consulting; Bausch & Lomb Honoraria Speaking and teaching; Bausch & Lomb Consulting; Merck Honoraria Speaking and teaching

Lance L Brown, OD, MD  Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri

Disclosure: Nothing to disclose.

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, and Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the assistance of Ryan I Huffman, MD, with the literature review and referencing for this article.

References

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  29. Al-Mobarak F, Khan AO. Complications and 2-year valve survival following Ahmed valve implantation during the first 2 years of life. Br J Ophthalmol. Jan 27 2009;[Medline].

 
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