Peters Anomaly Clinical Presentation

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

History

Because the ocular abnormalities are noted at birth, the obstetrician or the pediatrician is the first to observe them. The child may be completely asymptomatic or may have other ocular or systemic anomalies.

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Physical

Central, paracentral, or complete corneal opacity is always present in patients with Peters anomaly. Usually, no vascularization of this opacity occurs, which helps in distinguishing it from other causes of congenital corneal opacity.[7, 3, 8]

  • In type 1, 80% of cases are bilateral. Central or paracentral annular corneal opacity is present. The surrounding peripheral cornea may be clear or edematous because of glaucoma. The cornea is avascular. Iris strands often extend from the collarette, across the anterior chamber, to the posterior surface of the cornea. These may be filamentous or thick strands or sheets. The opacity is caused by a defect in the underlying corneal endothelium and the Descemet membrane. The lens may be clear or cataractous.
  • In type 2, cases are usually bilateral. The corneal opacity is denser and may be central or eccentric. The lens is usually cataractous and typically is juxtaposed to the cornea. The posterior stroma, the Descemet membrane, and the endothelium are defective. Iris strands may or may not be present. Other ocular and systemic abnormalities are more common in type 2 than in type 1.
  • Other ocular abnormalities: Peters anomaly may be associated with microcornea, cornea plana, sclerocornea aniridia, and glaucoma due to dysgenesis of the angle. Glaucoma occurs in up to 90% of cases. Colobomas of the iris and the choroid, as well as PHPV, have been reported. Optic nerve hypoplasia or atrophy also can occur. One case of Goldenhar syndrome with Peters anomaly has been reported.[9]
  • Systemic abnormalities
    • Peters anomaly is seen in trisomy 13-15, ring chromosome 21[10] , Norrie disease, partial deletion of chromosome arm 11q, mosaic trisomy 9, and 49XXXXY syndrome.
    • Systemic associations in Peters anomaly include developmental delay, congenital heart disease, structural defects of the neurologic system, spinal defects, genitourinary abnormalities, external ear abnormalities, hearing loss, cleft lip and palate, and short stature.
  • Krause-Kivlin syndrome is an autosomal recessive condition with short stature, facial dysmorphism, developmental delay, and delayed skeletal maturation.[11]
  • Peters plus syndrome also is an autosomal recessive condition. Clinical manifestations include brachycephaly, brain malformation, cardiac anomalies, genitourinary anomalies, syndactyly, cleft lip and palate, and hearing abnormalities.[6, 12, 13, 14]
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Causes

The cause of Peters anomaly is unknown; it may be caused by genetic factors, environmental factors, or both. The critical event must occur in the first trimester of pregnancy during the formation of the anterior chamber.

Most cases of Peters anomaly are sporadic or autosomal recessive. They are rarely autosomal dominant.

  • The PAX6 gene is involved in ocular embryogenesis. This gene seems to regulate other genes that also are involved in ocular development by impairing paired box sequence within a gene. Mutations in the PAX6 gene have been detected in various ocular anomalies, including Peters anomaly, aniridia, Axenfeld anomaly, and autosomal dominant keratitis characterized by corneal opacification and vascularization.[1, 15] Because some studies have found no mutation of the PAX6 gene in a large cohort of patients with Peters anomaly, other unidentified mutations also may cause Peters anomaly.[16]
  • The RIEG1 gene is associated with Reiger syndrome. This gene is located on band 4q25. A case of Peters anomaly has been reported with mutation of this gene.[17]
  • Another case of Peters anomaly was associated with abnormal centromere-chromatid apposition.[18]
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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

  1. Azuma N, Yamaguchi Y, Handa H, Hayakawa M, Kanai A, Yamada M. Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. Am J Hum Genet. Sep 1999;65(3):656-63. [Medline].

  2. Bhandari R, Ferri S, Whittaker B, Liu M, Lazzaro DR. Peters anomaly: review of the literature. Cornea. Aug 2011;30(8):939-44. [Medline].

  3. Ozeki H, Shirai S, Nozaki M, et al. Ocular and systemic features of Peters' anomaly. Graefes Arch Clin Exp Ophthalmol. Oct 2000;238(10):833-9. [Medline].

  4. Harissi-Dagher M, Colby K. Anterior segment dysgenesis: Peters anomaly and sclerocornea. Int Ophthalmol Clin. Spring 2008;48(2):35-42. [Medline].

  5. Cho D, Choi D, Nam W. Unilateral Peters' anomaly with chorioretinal coloboma in the other eye. Korean J Ophthalmol. Oct 2011;25(5):352-4. [Medline]. [Full Text].

  6. Hennekam RC, Van Schooneveld MJ, Ardinger HH, et al. The Peters'-Plus syndrome: description of 16 patients and review of the literature. Clin Dysmorphol. Oct 1993;2(4):283-300. [Medline].

  7. Mayer UM. Peters' anomaly and combination with other malformations (series of 16 patients). Ophthalmic Paediatr Genet. Jun 1992;13(2):131-5. [Medline].

  8. Traboulsi EI, Maumenee IH. Peters' anomaly and associated congenital malformations. Arch Ophthalmol. Dec 1992;110(12):1739-42. [Medline].

  9. Ghose S, Kishore K, Patil ND. Oculoauricular dysplasia syndrome of Goldenhar and Peters' anomaly: a new association. J Pediatr Ophthalmol Strabismus. Nov-Dec 1992;29(6):384-6. [Medline].

  10. Cibis GW, Waeltermann J, Harris DJ. Peters' anomaly in association with ring 21 chromosomal abnormality. Am J Ophthalmol. Nov 15 1985;100(5):733-4. [Medline].

  11. 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. Jul 1 1991;40(1):34-40. [Medline].

  12. Thompson EM, Winter RM, Baraitser M. Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder?. Clin Dysmorphol. Oct 1993;2(4):301-16. [Medline].

  13. Reis LM, Tyler RC, Abdul-Rahman O, et al. Mutation analysis of B3GALTL in Peters Plus syndrome. Am J Med Genet A. Oct 15 2008;146A(20):2603-10. [Medline].

  14. 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;41(1):2-10. [Medline].

  15. Mirzayans F, Pearce WG, MacDonald IM, Walter MA. Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am J Hum Genet. Sep 1995;57(3):539-48. [Medline].

  16. Churchill AJ, Booth AP, Anwar R, Markham AF. PAX 6 is normal in most cases of Peters' anomaly. Eye. 1998;12 (Pt 2):299-303. [Medline].

  17. 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. Feb 1999;36(2):152-5. [Medline].

  18. Wertelecki W, Dev VG, Superneau DW. Abnormal centromere-chromatid apposition (ACCA) and Peters' anomaly. Ophthalmic Paediatr Genet. Aug 1985;6(1-2):247-55. [Medline].

  19. Nischal KK, Naor J, Jay V, MacKeen LD, Rootman DS. Clinicopathological correlation of congenital corneal opacification using ultrasound biomicroscopy. Br J Ophthalmol. Jan 2002;86(1):62-9. [Medline].

  20. Lee CF, Yue BY, Robin J, Sawaguchi S, Sugar J. Immunohistochemical studies of Peters' anomaly. Ophthalmology. Jul 1989;96(7):958-64. [Medline].

  21. Ozeki H, Shirai S, Ikeda K, Majima A, Hirabayashi Y, Yamada K. [Histochemical studies on two cases of Peters' anomaly]. Nippon Ganka Gakkai Zasshi. Jun 1996;100(6):471-7. [Medline].

  22. Cameron JA. Good visual result following early penetrating keratoplasty for Peters' anomaly. J Pediatr Ophthalmol Strabismus. Mar-Apr 1993;30(2):109-12. [Medline].

  23. Gollamudi SR, Traboulsi EI, Chamon W, Stark WJ, Maumenee IH. Visual outcome after surgery for Peters' anomaly. Ophthalmic Genet. Mar 1994;15(1):31-5. [Medline].

  24. Parmley VC, Stonecipher KG, Rowsey JJ. Peters' anomaly: a review of 26 penetrating keratoplasties in infants. Ophthalmic Surg. Jan 1993;24(1):31-5. [Medline].

  25. Yang LL, Lambert SR, Lynn MJ, Stulting RD. Long-term results of corneal graft survival in infants and children with peters anomaly. Ophthalmology. Apr 1999;106(4):833-48. [Medline].

  26. Dana MR, Schaumberg DA, Moyes AL, Gomes JA. Corneal transplantation in children with Peters anomaly and mesenchymal dysgenesis. Multicenter Pediatric Keratoplasty Study. Ophthalmology. Oct 1997;104(10):1580-6. [Medline].

  27. Zaidman GW, Flanagan JK, Furey CC. Long-term visual prognosis in children after corneal transplant surgery for Peters anomaly type I. Am J Ophthalmol. Jul 2007;144(1):104-108. [Medline].

  28. Rao KV, Fernandes M, Gangopadhyay N, Vemuganti GK, Krishnaiah S, Sangwan VS. Outcome of penetrating keratoplasty for Peters anomaly. Cornea. Aug 2008;27(7):749-53. [Medline].

  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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