Unique Presentation of Corneal Opacity in Peters Plus Syndrome

Nie, Karlijn F. de; Wesseling, Pieter; Eggink, C.A.

doi:10.1097/ico.0000000000000713

Cited by 7 publications

(2 citation statements)

References 11 publications

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“…In case 2, histopathology of the corneal button showed the extensive absence of Bowman layer centrally with a fibrovascular nodule, suggestive of a secondary healing reaction. In a recent case report by de Nie et al, 13 another premature infant with PPS developed bilateral sequential corneal perforation in the first few weeks of life. Histopathology showed the absence of Bowman membrane centrally with increased cellularity, blood vessels, and basophilic collagen with increased mucin.…”

Section: Discussionmentioning

confidence: 93%

Ocular Phenotype of Peters-Plus Syndrome

Shah

Chauhan

Chu

et al. 2021

Cornea

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Peters-plus syndrome is a rare, autosomal recessive congenital disorder of glycosylation caused by mutations in the gene B3GLCT. A detailed description of the ocular findings is currently lacking in the scientific literature. We report a case series of Peters-plus syndrome with deep ocular phenotyping using anterior segment optical coherence tomography and ultrasound biomicroscopy. Where available, we describe the histology of host corneal buttons.Methods: A retrospective chart review of patients with Peters-plus syndrome was conducted under the care of the senior author between January 2000 and June 2019. Demographic and clinical data including ocular and systemic features, ophthalmic imaging, and molecular diagnostic reports were collected.Results: Four cases of Peters-plus syndrome were identified. Three patients were male and 1 was female. Five of the 8 eyes had an avascular paracentral ring opacity with relative central clearing. The paracentral opacity is due to iridocorneal adhesion and the relative central clearing associated with posterior stromal thinning. One eye had persistent fetal vasculature and microphthalmia, which has not previously been reported. One eye from each of 2 patients had a significantly different phenotype with a large vascularized central corneal opacity. Conclusions:The most common ocular phenotype seen in Petersplus syndrome is an avascular paracentral ring opacity with relative central clearing. A different phenotype with a large vascularized corneal opacity may also be observed.

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Section: Discussionmentioning

confidence: 93%

Ocular Phenotype of Peters-Plus Syndrome

Shah

Chauhan

Chu

et al. 2021

Cornea

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“…In a recent article, Takamiya et al [11] concluded that human PAX6 mutations are linked to some ocular diseases, one of which was Peters anomaly. In addition, genetic mutations in beta 1,3-galactosyltransferase-like gene (B3GALTL) were proposed to cause Peters plus syndrome [12], while microdeletions of 8q21.11 have demonstrated variable manifestations of Peters anomaly [13]. …”

Section: Discussionmentioning

confidence: 99%

Peters Anomaly in Twins: A Case Report of a Rare Incident with Novel Comorbidities

Almarzouki

Tayyib

Khayat

et al. 2016

Case Rep Ophthalmol

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Introduction: Peters anomaly is a rare developmental malformation involving the anterior segment of the eye, which culminates in amblyopia or congenital blindness. Multiple ocular and/or systemic malformations have been observed with this anomaly, and novel comorbidities continue to be reported. Case Presentation: The probands were monozygotic twin boys (twin I and twin II) born to consanguineous parents at 36 weeks of gestation. Coarse facial features and deep-seated eyes were noted at birth. 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. Both twins had prominent horizontal nystagmus. Slit-lamp examination demonstrated varying degrees of central leukoma (corneal opacity) associated with iridocorneal adhesion, which is characteristic of type I Peters anomaly. No cataractous changes were observed. Normal intraocular pressure and disorganized retina were observed. Pupillary abnormalities included bilaterally underdeveloped pupils and bilateral absence of pupils was noted. Ocular MRI showed bilateral microphthalmia and optic nerve hypoplasia, with a small optic chiasm in both twins. At this age, the diagnosis of Peters anomaly was made. At 16 months of age, both twins developed deep venous thrombosis and purpuric skin lesions. Investigations revealed a hereditary thrombophilia secondary to a homozygous mutation causing protein C deficiency, which is a rare thrombotic condition. Ocular ultrasonography revealed bilateral vitreous hemorrhaging linked to altered coagulation. One twin developed bilateral inguinal hernia and cryptorchidism. 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. 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.

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Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review

Francisco

Pascoal

Marques‐da‐Silva

et al. 2019

J of Inher Metab Disea

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Congenital disorders of glycosylation (CDG) are a rapidly growing family comprising >100 genetic diseases. Some 25 CDG are pure O-glycosylation defects. Even among this CDG subgroup, phenotypic diversity is broad, ranging from mild to severe poly-organ/system dysfunction. Ophthalmic manifestations are present in 60% of these CDG. The ophthalmic manifestations in N-glycosylation-deficient patients have been described elsewhere. The present review documents the spectrum and incidence of eye disorders in patients with pure O-glycosylation defects with the aim of assisting diagnosis and management and promoting research.

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Unique Presentation of Corneal Opacity in Peters Plus Syndrome

Cited by 7 publications

References 11 publications

Ocular Phenotype of Peters-Plus Syndrome

Ocular Phenotype of Peters-Plus Syndrome

Peters Anomaly in Twins: A Case Report of a Rare Incident with Novel Comorbidities

Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review

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