A case of Peters anomaly with bilateral post axial polydactyly, convex soles, ocular hypertelorism, a low nasal bridge, retrognathia, undescended testis, microphthalmia and club foot was examined in a neonatal Indian baby girl who had been delivered in the hospital and admitted to the newborn unit. She died aged five days. There were no cases of Peters anomaly recorded in India according to a l...

PURPOSE To evaluate the importance in anterior segment dysgenesis of genetic variation in Foxe3, a gene encoding a forkhead transcription factor specifically expressed in the lens. METHODS The phenotype of mice heterozygous for a mutation in the DNA-binding domain of Foxe3 was examined from histologic sections, and DNA binding by the encoded protein was investigated by gel-shift assay. FOXE3 ...

PURPOSE Peters anomaly is a developmental anomaly of the eye frequently associated with glaucoma. The aim of this study was to further define the molecular basis of this condition. METHODS The role of four candidate genes implicated in ocular development or glaucoma, PAX6, PITX2, MYOC, and CYP1B1, was studied in 15 patients with Peters anomaly. Mutational analysis used a combination of single...

PURPOSE To determine whether sequence variations in the congenital glaucoma gene, CYP1B1, are present in individuals with Peters' anomaly, a developmental eye anomaly frequently associated with glaucoma. METHODS The CYP1B1 coding region was screened in 26 individuals with Peters' anomaly (9 familial and 17 simplex cases) by heteroduplex analysis using the Transgenomic Wave nucleic acid fragme...

Two sibs with a phenotype characterised by short stature, brachydactyly, and ocular anomalies (Peters' anomaly) are reported (Peters'-plus syndrome). The consanguinity is in agreement with the proposed autosomal recessive inheritance.

A 5-week-old male presented with Peters' anomaly. Corneal transplantation was deferred and the patient underwent an optical sector iridectomy in his better eye with central leukoma and iridocorneal adhesions. At six months following surgery, there was a decrease in corneal opacity. The most recent ophthalmic examination was performed at age 42 months. The cornea was considerably clearer, and th...

OBJECTIVE To report a case of classic galactosemia that presented with a rare ocular finding, Peters' anomaly. CLINICAL PRESENTATION AND INTERVENTION A neonate, born to first-degree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. Corneal opacity was noticed in the left eye. Hydration and empiric antibiotics were started after collection of the r...

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 consanguineo...