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Peters anomaly (PA) is a rare congenital disorder within the anterior segment dysgenesis (ASD) spectrum, characterized by corneal opacity, iridocorneal adhesions, and potential systemic involvement. The genetic basis of PA and related syndromes are complex and incompletely understood. This study investigates novel genetic variants and their clinical impact in two unrelated individuals diagnosed with PA spectrum disorder. Whole-exome sequencing (WES), long-range PCR, and breakpoint analysis were applied to identify pathogenic variants. In the first patient, a heterozygous ~1.6 Mb deletion was detected, spanning the genes PEX2 and ZFHX4 (GRCh37 chr8:g.76760782_78342600del). The second patient carried a heterozygous FOXC1 variant (NM_001453.3:c.310A>G), classified as likely pathogenic. Both variants were confirmed by Sanger sequencing and considered de novo, as they were not present in the biological parents. Clinical evaluations revealed phenotypic variability, with the first patient displaying both ocular and systemic anomalies as in a Peters plus-like syndrome phenotype, while the second patient had isolated ocular manifestations as in a PA type 1 phenotype. These findings expand the genetic landscape of PA, underscoring the importance of comprehensive genomic analysis in subclassifying ASD disorders. Further studies are needed to elucidate the functional consequences of these variants and improve diagnostic and therapeutic strategies.

Peters-Plus syndrome (PTRPLS) is an autosomal recessive congenital disorder of glycosylation caused by biallelic pathogenic variants in the ß 1,3-glucosyltransferase gene ( ). To date, homozygous or compound heterozygous splicing, truncating, missense variants, and whole gene deletions have been reported in the gene. Our aim was to investigate the role of small copy number variations (CNVs) in this condition alongside the clinical features of the patients. The study included eleven patients from six consanguineous families originating from the same village. Clinical exome sequencing-based CNV analysis was employed across all probands to ascertain the genetic background. Using GATK-gCNV, we identified a homozygous deletion on chromosome 13q12.3, encompassing the fifteenth exon of the gene. The median age at admission was 2.74 years, ranging from 2 months to 41 years. The mean standard deviation scores for height and weight at admission were -4.4±0.9 and -3.8±1.8, respectively. Ophthalmological abnormalities included corneal haze, anterior synechiae, unilateral leucoma, corneal-lenticular adhesion, glaucoma, and severe visual loss. Patients under the age of five years exhibited global developmental delay, while those older than five years demonstrated varying degrees of intellectual disability, with two exceptions exhibiting normal cognitive function. Our findings highlight an important role for Next-Generation Sequencing (NGS)-based CNV analysis in improving the diagnostic accuracy in PTRPLS. CNVs represent a significant form of genomic variation and should be systematically considered in genetically unresolved Mendelian disorders. Integrating CNV detection algorithms into routine NGS diagnostic workflows has the potential to enhance the identification of pathogenic changes, ultimately facilitating a more comprehensive molecular diagnosis for affected individuals.

Peters plus syndrome is a rare genetic condition wherein multiple systemic involvement with distinctive facial features are manifested, whilst the hallmark is Peters anomaly, occuring from anterior segment dysgenesis. Homozygous variants in the B3GLCT gene were identified to underlie this disorder. We here report on a onemonth- old female patient with typical features characteristic of Peters plus syndrome in whom a homozygous pathogenic mutation in the B3GLCT gene was detected.

Background Peters plus syndrome (PPS) is a combination of congenital Peters anomaly and systemic abnormalities. It is inherited most commonly in an autosomal recessive pattern with homozygous B3GLCT mutations. Ocular findings consist predominantly anterior segment abnormalities without posterior segment involvement. Case presentation In this presentation, we report a case of PPS with homozygous pathogenic variant in B3GLCT who presented with classic anterior segment findings, systemic abnormalities, as well as atypical bilateral chorioretinal atrophy. The chorioretinal findings were characterized with spectral-domain optical coherence tomography. Conclusions Our report expands the phenotypic descriptions of PPS by characterizing posterior segment findings.

Peters plus syndrome is a rare congenital disorder that includes ocular anterior segment defects of the classic Peter's anomaly, and is mostly associated with craniofacial and skeletal defects. A 21-week fetus was referred for further evaluation due to a suspicion of fetal hydrocephalus. An ultrasound examination revealed hyperechogenic lenses, microphthalmia, hypotelorism, retrognathia, mild ventriculomegaly, absence of the cavum septum pellucidum, and short stature. Amniocentesis and further microarray analysis revealed normal chromosomal copy numbers including the gene . In utero mort fetalis occurred at the 23 gestational week. Ultrasound and fetal autopsy findings were suggestive of Peters plus syndrome, but the absence of the gene mutation made the diagnosis Peters plus-like syndrome. Obstetricians should consider Peters plus-like syndrome with prenatal detection of ocular anomalies along with craniofacial and skeletal anomalies with the absence of gene mutation.

Imperforate hymen is an isolated and sporadic event. The aim of this study was to report varied clinical and management problems of consecutive imperforate hymen in children and to compare the genetic review with literature. This is a retrospective analysis of eight consecutive imperforate hymen children admitted during 2010-2015. Among eight girls, two were infants and six were in the adolescent group. Clinical presentations included varied degree of genitourinary obstruction (7) and incidental finding (1). Genetic analysis of imperforate hymen suggested sporadic event (5), associations (2), and syndromic (1). Ultrasound and magnetic resonance imaging revealed the level of obstruction. Hymenectomy was done in neonate (1), adolescent (6), and one has been under observation. Abdominoperineal pull-through was done in concomitant proximal vaginal atresia. Hymen development origin is variable and complex. Imperforate hymen is rarely a part of systemic/genetic anomaly. Genital examination at birth or during puberty is mandatory which often guides the timing of hymenectomy and prevents the sequelae of imperforate hymen. Hymenectomy is ideal during puberty and resolves all genitourinary obstructions.

Peter plus syndrome (PPS) is a rare, hereditary (autosomal recessive) disorder characterized by a mutation in the beta-1,3-galactosyltransferase-like gene (chromosome 13q12), which causes impaired glycosylation of several structural and functional proteins throughout the body. Clinical signs and symptoms of PPS are highly variable and include structural malformations affecting multiple organ systems including central nervous system. We aim to discuss a neurosurgeon's perspective to PPS in this report. A 2-year-old boy presented with congenital dysmorphic facies, bilateral central corneal opacities, delayed developmental milestones, short-stature (75cm), rhizomelia with brachydactyly, and history of surgery for anal atresia on the second day of life. Screening craniospinal magnetic resonance imaging revealed mild ventriculomegaly, cavum septum pellucidum, cavum velum interpositum, vermian hypoplasia, and normal spine. Cytogenetic analysis showed a mutation in the beta-1,3-galactosyltransferase-like gene on chromosome 13. Clinical picture in our patient suggested the diagnosis of PPS. Parents often seek ophthalmological consultation due to visual impairment predominantly, and this syndrome largely remains unknown among neurosurgeons. Nonetheless, babies with PPS may present with neurological symptoms such as seizures, spastic diplegia, tinnitus, or hearing loss as well as a life-threatening neurosurgical emergency arising due to raised intracranial pressure. Therefore, the role of neurosurgeon becomes crucial in managing these cases.

Peters Plus syndrome (MIM 261540) is a rare autosomal recessive condition characterized by ocular defects (typically Peters anomaly) and other systemic major/minor abnormalities. Mutations in the B3GALTL gene encoding the β-1,3-glucosyltransferase have been found in virtually all patients with typical Peters Plus syndrome. We report here a female patient with severe manifestations of Peters Plus syndrome including facial dysmorphism and bilateral corneal opacity associated with left renal pyelo-calicial dilatation and sexual ambiguity. Total sequencing of the B3GALTL gene revealed no mutation in the patient. To our knowledge, sexual ambiguity has not previously been reported in Peters Plus syndrome so far, and renal malformation is also apparently rare in the syndrome.

A girl was born with sclerocornea of the right eye, corneal staphyloma of the left eye and lumbar myelomeningocele. The myelomeningocele was repaired soon after birth. The corneal staphyloma was perforated during infancy. She received keratoplasty and achieved light perception. Her right kidney revealed multicystic dysplasia and was non-functioning at birth. She had neurogenic bladder, and her renal function deteriorated gradually. Peters plus syndrome was diagnosed based on anterior ocular segment anomalies, short stature, developmental delay and characteristic face. Anterior ocular segment anomalies are rare findings, but seem to be occasionally associated with spina bifida and renal anomalies. Myelomeningocele and chronic renal failure in patients with Peters plus syndrome have not been reported to our knowledge.