Peters Anomaly: Novel Non-Invasive Alternatives to Penetrating Keratoplasty

Rajagopal, Raksheeth Nathan; Fernandes, Merle

doi:10.1080/08820538.2023.2176238

Cited by 3 publications

(2 citation statements)

References 71 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…developmental delay, cleft lip, cardiac malformation, and skeletal deformities). 1 Germline pathogenic sequence variants in several genes have been reported in syndromic or isolated PA: B3GLCT, PAX6, PITX2, PITX3, FOXE3, CYP1B1, MAF, COL4A1 and SOX2. 2 Of these, PAX6 most frequently harbours pathogenic sequence variants in PA associated with aniridia.…”

Section: Introductionmentioning

confidence: 99%

“…Peters' anomaly (PA) is a rare anterior segment dysgenesis with an incidence of around 1.5/100,000 live births, characterised by central corneal opacity and irido‐lenticulo‐corneal adhesions, at times presenting with other congenital anomalies, (e.g. developmental delay, cleft lip, cardiac malformation, and skeletal deformities) 1 . Germline pathogenic sequence variants in several genes have been reported in syndromic or isolated PA: B3GLCT , PAX6 , PITX2 , PITX3 , FOXE3 , CYP1B1 , MAF , COL4A1 and SOX2 2 .…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins

Cronemberger,

Albuquerque,

Silva

et al. 2024

Acta Paediatrica

View full text Add to dashboard Cite

AimThis study reports the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins subsequently diagnosed with Wilms tumour (WAGR syndrome).MethodsTwo monozygotic female twins were referred at age 2 months with bilateral corneal opacity. A diagnosis of Peters' anomaly associated to aniridia was made in both eyes of both twins. Physical examination and ultrasonography were carried out at 12 months of age to explore the possibility of WAGR‐related anomalies, specifically Wilms tumour. DNA were isolated and subjected to whole exome sequencing.ResultsPeters' anomaly associated to aniridia in both eyes as well as bilateral Wilms tumour in both children were diagnosed. Exome analyses showed a large heterozygous deletion encompassing 6 648 473 bp in chromosome 11p13, using Integrative Genomics Viewer and AnnotSV software.ConclusionWAGR syndrome is a rare contiguous gene deletion syndrome with a greater risk of developing Wilms tumour associated with Peters' anomaly and congenital aniridia. However, co‐occurrence of both anomalies was rarely reported in twins, and never in both eyes of monozygotic twins. Here, we report the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins with WAGR syndrome.

show abstract

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins

Cronemberger,

Albuquerque,

Silva

et al. 2024

Acta Paediatrica

View full text Add to dashboard Cite

show abstract

Anterior segment dysgenesis: current perspectives on management

Bolton,

Bohnsack

2024

Expert Review of Ophthalmology

View full text Add to dashboard Cite

Peters anomaly: An overview

Khasnavis,

Fernandes

2023

Taiwan Journal of Ophthalmology

View full text Add to dashboard Cite

Peters anomaly (PA) is a rare, often bilateral, congenital corneal opacity, usually with a sporadic inheritance pattern, characterized by corneal opacities and irido-corneal or lenticular-corneal adhesions with a defect in the Descemet’s membrane, occurring due to anterior segment dysgenesis during fetal development. Due to other ocular and systemic comorbidities, a team comprising pediatric cornea, glaucoma, and strabismus specialists in addition to a pediatrician and geneticist is necessary for the appropriate management of these children. Since the outcome of pediatric penetrating keratoplasty is variable and has a higher chance of failure when accompanied by additional procedures, such as lensectomy and vitrectomy, minimally invasive alternatives are increasingly being offered to these patients. Of note is the recently reported novel procedure: selective endothelialectomy for PA, which avoids the need for a corneal transplant and results in gradual clearing of the corneal opacity over time. In this overview, we aimed to describe the etiology, classification, pathophysiology, histopathology, clinical features, and management of PA.

show abstract

Peters Anomaly: Novel Non-Invasive Alternatives to Penetrating Keratoplasty

Cited by 3 publications

References 71 publications

Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins

Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins

Anterior segment dysgenesis: current perspectives on management

Peters anomaly: An overview

Contact Info

Product

Resources

About