Catherine Achim, MD; Kimberly G. Yen, MD

Disclosures

March 06, 2012

Discussion

Peters anomaly is a rare congenital disorder associated with a wide spectrum of clinical manifestations, ranging from unilateral isolated corneal opacification to bilateral cases that present with cataracts, glaucoma, and systemic malformations. The ocular abnormalities result from the absence of corneal endothelium, Descemet membrane, and posterior stroma.[3] The ensuing size and density of the stromal opacity are variable, as is the extent of lens and iris adhesions to the cornea. Some authors further classify Peters anomaly into types I and II, depending on the absence (type I) or presence (type II) of lens involvement.[1]

Autosomal dominant and recessive transmissions have been described in Peters anomaly, but the majority of cases are sporadic. Several genes have been associated with the disease, the most frequent being PAX6, FOXC1, and PITX2.[1] Teratogens such as alcohol, retinoic acid, and rubella virus have also been identified as possible causes of Peters anomaly.[3] Approximately 70% of cases are bilateral. Systemic findings are more common in bilateral cases, although unilateral cases may also present with systemic manifestations.

After its first description by Peters in 1906, a number of associated ocular abnormalities have also been described, such as microphthalmia and chorioretinal colobomas. Numerous associated systemic findings have also been reported. Cleft palate and lip, central nervous system malformations, heart defects, and genitourinary abnormalities are among the most common.[3] Some authors have recommended that patients with Peters anomaly be referred for chromosomal analysis and molecular gene testing, regardless of the presence of unilateral or bilateral involvement.[1]

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