The current study reports a unique concordance of Peters anomaly in monozygotic twins associated with multiple novel comorbidities. Notably, novel associations are still being described. Other associated conditions are rarely observed, such as Wilms’ tumor and corneal perforation. In addition, a number of ocular and systemic findings are known to be associated with Peters anomaly, including microphthalmia, cardiac malformations and cleft palate. However, several previous observations did clearly point to a genetic etiology. īeing a rare disorder, its exact etiology is yet to be elucidated. A consensus has now been established for variations on this categorization system: ‘type I’ features corneal opacity and iridocorneal synechiae, ‘type II’ is characterized by central corneal opacity and a cataractous lens that may adhere to the cornea, and ‘Peters plus’ is associated with short stature, developmental delays, and a cleft lip or palate. proposed a classification system for Peters anomaly that was divided into three types: central corneal leukoma alone, central corneal leukoma with corneolenticular touch, and central corneal leukoma with Rieger’s mesodermal dysgenesis. The spectrum of conditions referred to as Peters anomaly has now expanded to include cases with unilateral or bilateral ocular involvement, with or without systemic associations. The term Peters anomaly was later coined to describe this syndrome. In 1906, Albert Peters first described the associations between Descemet’s membrane defect, a shallow anterior chamber, iridocorneal synechiae (adherences) and corneal leukoma (opacity). Hypoplasia of the optic nerves and optic chiasm, along with severe protein C deficiency and bilateral absence of the pupils, are associated comorbidities that have not previously been reported with this anomaly. Conclusion: The novel concordance of Peters anomaly in these monozygotic twins sharing a mutation in PROC gene provides further evidence that this anomaly has a genetic basis. One twin developed bilateral inguinal hernia and cryptorchidism. Ocular ultrasonography revealed bilateral vitreous hemorrhaging linked to altered coagulation. Investigations revealed a hereditary thrombophilia secondary to a homozygous mutation causing protein C deficiency, which is a rare thrombotic condition. #PETERS ANOMALY SKIN#At 16 months of age, both twins developed deep venous thrombosis and purpuric skin lesions. At this age, the diagnosis of Peters anomaly was made. Ocular MRI showed bilateral microphthalmia and optic nerve hypoplasia, with a small optic chiasm in both twins. Pupillary abnormalities included bilaterally underdeveloped pupils and bilateral absence of pupils was noted. Normal intraocular pressure and disorganized retina were observed. Slit-lamp examination demonstrated varying degrees of central leukoma (corneal opacity) associated with iridocorneal adhesion, which is characteristic of type I Peters anomaly. Both twins had prominent horizontal nystagmus. At 6 months, ophthalmic examination revealed that both twins were unable to blink in response to light, or to fixate and follow a moving object. Coarse facial features and deep-seated eyes were noted at birth. Case Presentation: The probands were monozygotic twin boys (twin I and twin II) born to consanguineous parents at 36 weeks of gestation. Multiple ocular and/or systemic malformations have been observed with this anomaly, and novel comorbidities continue to be reported. Introduction: Peters anomaly is a rare developmental malformation involving the anterior segment of the eye, which culminates in amblyopia or congenital blindness.
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