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]
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.
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.
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].
Bhandari R, Ferri S, Whittaker B, Liu M, Lazzaro DR. Peters anomaly: review of the literature. Cornea. Aug 2011;30(8):939-44. [Medline].
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].
Harissi-Dagher M, Colby K. Anterior segment dysgenesis: Peters anomaly and sclerocornea. Int Ophthalmol Clin. Spring 2008;48(2):35-42. [Medline].
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].
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].
Mayer UM. Peters' anomaly and combination with other malformations (series of 16 patients). Ophthalmic Paediatr Genet. Jun 1992;13(2):131-5. [Medline].
Traboulsi EI, Maumenee IH. Peters' anomaly and associated congenital malformations. Arch Ophthalmol. Dec 1992;110(12):1739-42. [Medline].
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].
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].
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].
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].
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].
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].
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].
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].
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].
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].
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].
Lee CF, Yue BY, Robin J, Sawaguchi S, Sugar J. Immunohistochemical studies of Peters' anomaly. Ophthalmology. Jul 1989;96(7):958-64. [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. Jun 1996;100(6):471-7. [Medline].
Cameron JA. Good visual result following early penetrating keratoplasty for Peters' anomaly. J Pediatr Ophthalmol Strabismus. Mar-Apr 1993;30(2):109-12. [Medline].
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].
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].
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].
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].
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].
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].
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].

