Atypical Peters plus syndrome with new associations

Hanna, Nancy; Eickholt, Kimberly; Agamanolis, Dimitris P.; Burnstine, Robert A.; Edward, Deepak P.

doi:10.1016/j.jaapos.2010.02.003

Cited by 10 publications

(4 citation statements)

References 10 publications

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“…The authors hypothesized that the separation of the IRXB gene cluster from its regulatory region at 16q12.2 is the cause of the observed anterior segment dysgenesis [118*]. Finally, aCGH identified a 326-kb deletion at 9p22.31 in a patient with an atypical PPS phenotype consisting of unilateral Peters anomaly and microphthalmia, intrauterine growth retardation, clinodactyly, dsymorphic facial features, agenesis of the right lung, and heart, gastrointestinal, and genitourinary defects [119]. This deletion encompasses 8 of the 9 exons of the ROR2 gene, previously associated with an autosomal recessive form of Robinow syndrome, a condition that sometimes involves infantile glaucoma (Dr. Alex Levin, personal communication).…”

Section: Novel Genomic Regions Associated With Anterior Segment Dysgementioning

confidence: 99%

Genetics of anterior segment dysgenesis disorders

Reis

Semina

2011

Current Opinion in Ophthalmology

137

123

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Purpose of review Anterior segment dysgenesis (ASD) disorders encompass a spectrum of developmental conditions affecting the cornea, iris, and lens and are generally associated with an approximate 50% risk for glaucoma. These conditions are characterized by both autosomal dominant and recessive patterns of inheritance often with incomplete penetrance/variable expressivity. This article summarizes what is known about the genetics of ASD disorders and reviews recent developments. Recent findings Mutations in Collagen 4A1 (COL4A1) and Beta-1,3-glucosyltransferase (B3GALTL) have been reported in ASD patients. Novel findings in other well-known ocular genes are also presented, among which regulatory region deletions in PAX6 and PITX2 are most notable. Summary Although a number of genetic causes have been identified, many ASD conditions are still awaiting genetic elucidation. The majority of characterized ASD genes encode transcription factors, several factors represent extracellular matrix related proteins. All of the involved genes play active roles in ocular development and demonstrate conserved functions across species. The use of novel technologies, such as whole genome sequencing/comparative genomic hybridization, is likely to broaden the mutation spectrums in known genes and assist in the identification of novel causative genes as well as modifiers explaining the phenotypic variability of ASD conditions.

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Section: Novel Genomic Regions Associated With Anterior Segment Dysgementioning

confidence: 99%

Genetics of anterior segment dysgenesis disorders

Reis

Semina

2011

Current Opinion in Ophthalmology

137

123

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“…One report of PFV in a child incorrectly labeled as having PPS was associated with mutations in the gene ROR2, not B3GLCT. 14 In the commonly observed phenotype of the avascular paracentral corneal opacity with central clearing, we propose that the central corneal thinning can be explained by the inherited defect in glycosylation associated with B3GLCT, which may somehow lead to central stromal thinning. This process may occur independently of keratolenticular adhesion.…”

Section: Discussionmentioning

confidence: 86%

“…One report of PFV in a child incorrectly labeled as having PPS was associated with mutations in the gene ROR2 , not B3GLCT . 14…”

Section: Discussionmentioning

confidence: 99%

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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“…Even mild type I disease requires referral to pediatrician for a full workup. Previous studies including those investigating Peters plus syndrome phenotype 26–30 did not distinguish Peters type I from type II when reporting associated systemic findings. Of interest, Miao et al 31 reported systemic association, mostly growth retardation and congenital brain defects, in only 5 of 90 patients with congenital corneal opacity.…”

Section: Discussionmentioning

confidence: 95%

Phenotypic Spectrum of Peters Anomaly: Implications for Management

Elbaz

Ali

Strungaru

et al. 2021

Cornea

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The aim of this study was to characterize the wide phenotypic spectrum of Peters anomaly and to suggest a management algorithm based on disease phenotype. Methods:The charts of all children diagnosed with Peters anomaly between January 2000 and December 2013 were reviewed retrospectively. Anterior segment color photographs, anterior segment optical coherence tomography, and ultrasound biomicroscopy images were used to phenotype disease severity and to guide management. Disease severity was categorized to Peters anomaly type I and II according to lens involvement. Peters anomaly type I and II were further categorized from mild to severe disease according to the size and location of corneal opacity. Associated systemic findings were also documented.Results: Eighty eyes of 54 patients with Peters anomaly were identified, of which 28 (51.9%) had unilateral disease. Peters anomaly type I was present in 40 patients (57 eyes, 71.2%) and Peters anomaly type II in 14 patients (23 eyes, 28.8%). Nine eyes (11.3%) had phenotypic features that required observation only, 24 eyes (30%) were amenable to pupillary dilation, 43 eyes (53.8%) with large, dense central opacity required penetrating keratoplasty, and 4 eyes (5.0%) had no intervention because of very poor prognostic features. Associated systemic abnormalities occurred frequently in Peters anomaly (n = 20, 37.0%), with congenital heart defect being the most common morbidity (n = 10, 18.5%).Conclusions: Peters anomaly presents with a variable phenotype ranging from minimal peripheral corneal opacity to extensive iris and lens adhesions with dense central corneal opacity detrimental to vision. Management can be standardized and guided by an algorithm based on phenotypic severity. Systemic abnormalities should be ruled out, regardless of the severity of Peters anomaly.

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Atypical Peters plus syndrome with new associations

Cited by 10 publications

References 10 publications

Genetics of anterior segment dysgenesis disorders

Genetics of anterior segment dysgenesis disorders

Ocular Phenotype of Peters-Plus Syndrome

Phenotypic Spectrum of Peters Anomaly: Implications for Management

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