eMedicine Specialties > Ophthalmology > Genetic Disorders

Peters Anomaly: Differential Diagnoses & Workup

Author: Guruswami Arunagiri, MD, FRCS, Department of Ophthalmology, Permanente Medical Group, Sacramento, CA
Contributor Information and Disclosures

Updated: Feb 20, 2009

Differential Diagnoses

Cataract, Congenital
Corneal Graft Rejection
Glaucoma, Secondary Congenital
Posterior Polymorphous Corneal Dystrophy

Other Problems to Be Considered

Posterior keratoconus: Clinically, both conditions are similar, although minimal opacity is present in posterior keratoconus. Histopathologically, in Peters anomaly, the corneal endothelium and the Descemet membrane are thin or absent. In posterior keratoconus, the Descemet membrane and the endothelium are present. The Descemet membrane is disorganized. Electron microscopy (EM) shows abnormalities of the anterior banded zone. The endothelial cells are attenuated in the area of guttae. No iris adhesions are seen in posterior keratoconus.

Sclerocornea: The entire cornea is opacified and flattened. Inheritance may be autosomal dominant or autosomal recessive. The normal lamellar orientation of the stroma is lost.

Trauma: This includes birth trauma from forceps delivery.

Other differential diagnoses to be considered are as follows:

Intrauterine keratitis
Mucopolysaccharidoses
Congenital hereditary endothelial dystrophy
Corneal dermoids

Workup

Laboratory Studies

  • Peters anomaly is a clinical diagnosis. Depending on the physical examination, laboratory studies may be warranted.
  • The only specific test for Peters anomaly is histopathology of the cornea (see Histologic Findings).

Imaging Studies

  • The following imaging studies may be performed based on the clinical findings from the physical examination:
    • MRI
      • MRI of the brain and the spinal cord are indicated to rule out neurologic defects.
      • MRI of the abdomen is indicated to rule out genitourinary abnormalities.
    • Echocardiogram (ECHO) is indicated to rule out cardiac defects.
    • Ocular ultrasonogram
      • Ocular ultrasonogram is a useful tool to help diagnose Peters anomaly and to differentiate it from other causes of corneal opacity.
      • Ocular ultrasonogram is also helpful in assessing associated anterior segment abnormalities.17
      • Ocular ultrasonogram shows hypoechogenicity of the anterior stroma that histopathologically correlates with the absence of the Bowman layer and the presence of stromal edema.17

Other Tests

  • To rule out hearing abnormalities, hearing tests may be performed.

Procedures

  • A thorough ocular examination is done under anesthesia.
  • External photographs, ocular ultrasonogram (see Imaging Studies), intraocular pressure, and retinoscopy may also be performed.

Histologic Findings

Histopathology is often diagnostic. Histologic findings show either thinning or absence of the Descemet membrane or the endothelium. The lens may be normal, or it may be cataractous and adhere to the cornea. The stromal lamellae are irregular and more closely packed. Undifferentiated iris strands attach to the posterior surface of the cornea.

Histochemical studies have shown absence of keratan sulfate in both the cornea and the sclera.

Immunohistochemical studies have shown increased amounts of fibronectin and type VI collagen in the corneas of patients with Peters anomaly.18,19

More on Peters Anomaly

Overview: Peters Anomaly
Differential Diagnoses & Workup: Peters Anomaly
Treatment & Medication: Peters Anomaly
Follow-up: Peters Anomaly
References
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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. 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].

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

  4. 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].

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

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

  7. 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].

  8. 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].

  9. 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].

  10. 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].

  11. 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].

  12. 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].

  13. 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].

  14. 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].

  15. 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].

  16. 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].

  17. 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].

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

  19. 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].

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

  21. 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].

  22. 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].

  23. 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].

  24. 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].

  25. 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].

  26. 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].

  27. 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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Further Reading

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Keywords

Peter's anomaly, Peters anomaly, keratolenticular dysgenesis, congenital central corneal leukoma, dysgenesis mesodermalis of the cornea, anterior segment dysgenesis

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Contributor Information and Disclosures

Author

Guruswami Arunagiri, MD, FRCS, Department of Ophthalmology, Permanente Medical Group, Sacramento, CA
Guruswami Arunagiri, MD, FRCS is a member of the following medical societies: American Academy of Ophthalmology
Disclosure: Nothing to disclose.

Medical Editor

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.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Christopher J Rapuano, MD, Professor, Department of Ophthalmology, Jefferson Medical College of Thomas Jefferson University; Co-Chairman of the Cornea Service, Co-Chairman 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; Inspire Honoraria Speaking and teaching; RPS Ownership interest Other; Vistakon Honoraria Speaking and teaching

CME Editor

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.

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