eMedicine Specialties > Ophthalmology > Genetic Disorders

Peters Anomaly: Treatment & Medication

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

Updated: Feb 20, 2009

Treatment

Medical Care

  • General
    • In a child suspected of having Peters anomaly, a thorough physical examination by a pediatrician is warranted.
    • Genetic counseling must be offered as needed.
  • Ocular
    • Glaucoma is very common in patients with Peters anomaly, occurring in up to 90% of them. No Food and Drug Administration (FDA)-approved medications are available for the treatment of glaucoma in children.
    • A pediatric glaucomatologist best manages these patients.

Surgical Care

  • For patients with a clear peripheral cornea, peripheral optical iridectomy may be performed.
  • For patients with bilateral visually disabling corneal opacity, penetrating keratoplasty is recommended. To prevent amblyopia, the earlier the surgery is performed (eg, before 3-6 mo), the better the results. The rates of graft clarity are between 20-60% in different studies.20,21,22,23,24,25,26
  • For patients with cataract, lensectomy/vitrectomy is indicated. If left aphakic, these patients will require aphakic contact lenses or aphakic spectacles.
  • Filtration surgery, cryoablation, or a tube shunt may be required for those patients with glaucoma whose increased intraocular pressure cannot be managed by medications.27

Consultations

  • Pediatrician - Thorough examination to rule out other systemic abnormalities
  • Geneticist - Genetic counseling
  • Pediatric glaucomatologist - Management of glaucoma (Most patients with Peters anomaly have glaucoma. No FDA-approved glaucoma medications are available for children.)
  • Vitreoretinal surgeon - Lensectomy/vitrectomy
  • Cornea specialist - Keratoplasty
  • Low-vision specialist - Management of poor vision, provision of optical aids

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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