Peters Anomaly: Background, Pathophysiology, Epidemiology

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Sections Peters Anomaly
Overview
Presentation
- History
- Physical
- Causes
- Show All
DDx
Workup
Treatment
Follow-up
References

Overview

Background

Peters anomaly is a rare congenital form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. It is characterized by a central corneal opacity (leukoma) due to defects in the posterior stroma, Descemet membrane, and endothelium.^{[1, 2, 3, 4, 5]}

Peters anomaly is differentiated into 2 types: the milder type 1 Peters anomaly, which typically does not include the lens, and the more severe type 2 Peters anomaly, in which the lens adheres to the cornea (keratolenticular adhesions).^[1]Peters anomaly may also be associated with systematic abnormalities.^{[6, 7]}

Genetic mutations within FOXC1, PAX6, PITX2, and CYP1B1 can all result in abnormal neural crest cell migration to the posterior cornea, which can lead to Peters anomaly.^{[2, 7, 8, 9]}

Pathophysiology

Peters anomaly type 1 presents with central or paracentral corneal opacity and iridocorneal adhesions. Keratolenticular adhesions are absent in this type, although the lens may be cataractous.

Peters anomaly type 2 is commonly associated with a denser corneal opacification. It presents with keratolenticular adhesions.

Peters anomaly is bilateral in 60%-80% of cases.^[10]It may be associated with other abnormalities of the eye, including congenital glaucoma, myopia, aniridia, iris coloboma, microphthalmos, persistent hyperplasia of primary vitreous (PHPV), and optic disc hypoplasia.^{[11, 12]}

Systemic associations with Peters anomaly include trisomy 13-15, partial deletion of chromosome arm 11q, and Norrie disease. Peters plus syndrome is characterized by cleft lip or palate, short stature, facial dysmorphism, genitourinary abnormalities, syndactyly, brachycephaly, and cardiac, neural, and hearing abnormalities.^{[6, 13]}

Freqency

United States

The incidence of Peters anomaly in the United States is estimated to be 44-60 cases annually.^[14]

International

The incidence of Peters anomaly outside the United States is unknown.

Mortality/Morbidity

In addition to corneal opacity and cataract, glaucoma and deprivation amblyopia may increase morbidity.^[13]

The risk of mortality may be increased because of other systemic involvement, especially cardiac and neural abnormalities.^{[6, 13]}

Race

Peters anomaly has no known racial predilection.

Sex

Peters anomaly has no known sexual predilection.

Age

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

Clinical Presentation

Zaidman GW, Flanagan JK, Furey CC. Long-term visual prognosis in children after corneal transplant surgery for Peters anomaly type I. Am J Ophthalmol. 2007 Jul. 144(1):104-108. [Medline].
Bhandari R, Ferri S, Whittaker B, Liu M, Lazzaro DR. Peters anomaly: review of the literature. Cornea. 2011 Aug. 30(8):939-44. [Medline].
Kim M, Lee SC, Lee SJ. Spontaneous corneal perforation in an eye with Peters' anomaly. Clin Ophthalmol. 2013. 7:1535-7. [Medline].
Yang LL, Lambert SR, Drews-Botsch C, Stulting RD. Long-term visual outcome of penetrating keratoplasty in infants and children with Peters anomaly. J AAPOS. 2009 Apr. 13(2):175-80. [Medline].
Chang JW, Kim JH, Kim SJ, Yu YS. Long-term clinical course and visual outcome associated with Peters' anomaly. Eye (Lond). 2012 Sep. 26(9):1237-42. [Medline].
Sault RW, Sheridan J. Peter' anomaly. Ophthalmol Eye Dis. 2013 Feb. 13(5):1-3. [Medline].
Hashemi H, Ghaffari R, Mohebi M. Posterior lamellar keratoplasty (DSAEK) in Peters anomaly. Cornea. 1201-5. 31(10):2012 Oct. [Medline].
Dahl E, Koseki H, Balling R. Pax genes and organogenesis. Bioessays. 1997 Sep. 19(9):755-65. [Medline].
Doward W, Perveen R, Lloyd IC, Ridgway AE, Wilson L, Black GC. A mutation in the RIEG1 gene associated with Peters' anomaly. J Med Genet. 1999 Feb. 36(2):152-5. [Medline].
Krachmer JH, Mannis MJ, & Holland EJ. Cornea. 3. St. Louis: Mosby; 2011.
Gondhowiardjo TD, van Haeringen NJ. Corneal aldehyde dehydrogenase, glutathione reductase, and glutathione S-transferase in pathologic corneas. Cornea. 1993 Jul. 12(4):310-4. [Medline].
Kivlin JD, Apple DJ, Olson RJ, Manthey R. Dominantly inherited keratitis. Arch Ophthalmol. 1986 Nov. 104(11):1621-3. [Medline].
M Senthilkumar , V D, Punj J, Pandey R. Peters' anomaly - anaesthetic management. Indian J Anaesth. 2009 Aug. 53(4):501-3. [Medline].
Kurilec J, Zaidman GW. Incidence of Peters anomaly and congenital corneal opacities interfering with vision in the United States. Cornea. 2014 Aug. 33(8):848-50. [Medline].
Mayer UM. Peters' anomaly and combination with other malformations (series of 16 patients). Ophthalmic Paediatr Genet. 1992 Jul. 13(2):131-5. [Medline].
Ozeki H, Shirai S, Nozaki M, Sakurai E, Mizuno S, Ashikari M, et al. Ocular and systemic features of Peters' anomaly. Graefes Arch Clin Exp Ophthalmol. 2000 Oct. 238(10):833-9. [Medline].
Traboulsi EI, Maumenee IH. Peters' anomaly and associated congenital malformations. Arch Ophthalmol. 1992 Dec. 110(12):1739-42. [Medline].
Kim YW, Choi HJ, Kim MK, Wee WR, Yu YS, Oh JY. Clinical outcome of penetrating keratoplasty in patients 5 years or younger: peters anomaly versus sclerocornea. Cornea. 2013 Nov. 32(11):1432-6. [Medline].
Ghose S, Kishore K, Patil ND. Oculoauricular dysplasia syndrome of Goldenhar and Peters' anomaly: a new association. J Pediatr Ophthalmol Strabismus. 1992 Nov. 29(6):384-6. [Medline].
Cibis GW, Waeltermann J, Harris DJ. Peters' anomaly in association with ring 21 chromosomal abnormality. Am J Ophthalmol. 1985 Nov. 100(5):733-4. [Medline].
Frydman M, Weinstock AL, Cohen HA, Savir H, Varsano I. Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: further delineation of the Krause-Kivlin syndrome. Am J Med Genet. 1991 Jul. 40(1):34-40. [Medline].
Hennekam RC, Van Schooneveld MJ, Ardinger HH, Van Den Boogaard MJ, Friedburg D, Rudnik-Schoneborn S, et al. The Peters'-Plus syndrome: description of 16 patients and review of the literature. Clin Dysmorphol. 1993 Oct. 2(4):283-300. [Medline].
Thompson EM, Winter RM, Baraitser M. Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder?. Clin Dysmorphol. 1993 Oct. 2(4):301-16. [Medline].
Reis LM1, Tyler RC, Abdul-Rahman O, Trapane P, Wallerstein R, Broome D, et al. Mutation analysis of B3GALTL in Peters Plus syndrome. Am J Med Genet A. 2008 Oct 15. 146A(20):2603-10. [Medline].
Heinonen TY, Maki M. Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats. Ann Med. 2009. 1(2):2-10. [Medline].
Wertelecki W, Dev VG, Superneau DW. Abnormal centromere-chromatid apposition (ACCA) and Peters' anomaly. Ophthalmic Paediatr Genet. 1985 Aug. 6(1-2):247-55. [Medline].
Peters Anomaly. US National Library of Medicine. Available at https://ghr.nlm.nih.gov/condition/peters-anomaly#resources. 2016 Aug 16; Accessed: June 2016.
Krachmer JH, Rodrigues MM. Posterior keratoconus. Arch Ophthalmol. 1978 Oct. 96(10):1867-73. [Medline].
Nischal KK, Naor J, Jay V, MacKeen LD, Rootman DS. Clinicopathological correlation of congenital corneal opacification using ultrasound biomicroscopy. Br J Ophthalmol. 2002 Jan. 86(1):62-9. [Medline].
Hirata A, Mine T. A simple and easy method using rigid endoscope to detect iridocorneal and keratolenticular adhesions in peters' anomaly. Case Rep Ophthalmol. 2013 Nov 06. 4(3):238-42. [Medline].
Morishige N, Yamada N, Morita Y, Sonoda KH. Peters' anomaly imaged with an infrared anterior segment camera. Clin Experiment Ophthalmol. 2014 May-Jun. 42(4):391-2. [Medline].
Matsubara A, Ozeki H, Matsunaga N, Nozaki M, Ashikari M, Shirai S, et al. Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous. Br J Ophthalmol. 2001 Dec. 85(12):1421-5. [Medline].
Ozeki H, Shirai S, Ikeda K, Majima A, Hirabayashi Y, Yamada K. Histochemical studies on two cases of Peters' anomaly. Nippon Ganka Gakkai Zasshi. 1996 Jun. 100(6):471-7.
Cameron JA. Good visual result following early penetrating keratoplasty for Peters' anomaly. J Pediatr Ophthalmol Strabismus. 1993 Mar-Apr. 30(2):109-12. [Medline].
Almobarak F, Khan AO. Complications and 2-year valve survival following Ahmed valve implantation during the first 2 years of life. Br J Ophthalmol. 2009 Jul. 93(7):795-8. [Medline].
Iseri SU, Osborne RJ, Farrall M, Wyatt AW, Mirza G, Nürnberg G, et al. Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. Hum Mutat. 2009 Oct. 30(10):1376-86. [Medline].

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Author

Danielle Trief, MD Assistant Professor of Ophthalmology, Columbia University College of Physicians and Surgeons

Disclosure: Nothing to disclose.

Coauthor(s)

Sara K Schroder Barnard College

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, 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; Novartis; Shire; Sun Ophthalmics; TearLab<br/>Serve(d) as a speaker or a member of a speakers bureau for: Avedro; Bio-Tissue; Shire.

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

Brian A Phillpotts, MD, MD

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

Disclosure: Nothing to disclose.

Guruswami Giri, MD, FRCS Vitreo-Retinal Surgeon, Sacramento, CA

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

Disclosure: Nothing to disclose.

Acknowledgements

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

Sections Peters Anomaly
Overview
Presentation
- History
- Physical
- Causes
- Show All
DDx
Workup
Treatment
Follow-up
References

Peters Anomaly

Background

Pathophysiology

Epidemiology

Freqency

Mortality/Morbidity

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Peters Anomaly

Background

Pathophysiology

Epidemiology

Freqency

Mortality/Morbidity

Race

Sex

Age

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