Introduction
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.
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.2,3
Peters anomaly may be associated with other abnormalities of the eye, including myopia, aniridia, coloboma of the iris, 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.4 Bilateral Peters anomaly was reported in an infant with 49XXXXY syndrome.
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.
Clinical
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.
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.5,2,6
- 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.7
- Systemic abnormalities
- Peters anomaly is seen in trisomy 13-15, ring chromosome 218 , 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.9
- 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.4,10,11,12
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.1,13 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.14
- 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.15
- Another case of Peters anomaly was associated with abnormal centromere-chromatid apposition.16
More on Peters Anomaly |
 Overview: Peters Anomaly |
| Differential Diagnoses & Workup: Peters Anomaly |
| Treatment & Medication: Peters Anomaly |
| Follow-up: Peters Anomaly |
| References |
| Next Page » |
References
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].
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].
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].
Further Reading
Keywords
Peter's anomaly, Peters anomaly, keratolenticular dysgenesis, congenital central corneal leukoma, dysgenesis mesodermalis of the cornea, anterior segment dysgenesis
