Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis
| Autor: | Pieter Wesseling, Karlijn F. de Nie, Catharina A. Eggink |
|---|---|
| Přispěvatelé: | Pathology |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Male medicine.medical_specialty Corneal endothelium medicine.medical_treatment Cleft Lip Perforation (oil well) Limb Deformities Congenital Gestational Age Case Reports Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9] Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] Pathogenesis Cornea 03 medical and health sciences 0302 clinical medicine Corneal Opacity Ophthalmology medicine Peters-plus syndrome Peters anomaly Journal Article Humans Infant Very Low Birth Weight Peters Plus syndrome Corneal transplantation Growth Disorders Corneal epithelium business.industry Infant Newborn medicine.disease Galactosyltransferases eye diseases 030104 developmental biology medicine.anatomical_structure Glucosyltransferases Mutation 030221 ophthalmology & optometry Histopathology sense organs business Infant Premature Keratoplasty Penetrating |
| Zdroj: | Cornea. the Journal of Cornea and External Disease, 35, 277-80 Cornea. the Journal of Cornea and External Disease, 35, 2, pp. 277-80 de Nie, K F, Wesseling, P & Eggink, C A 2016, ' Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis ', Cornea, vol. 35, no. 2, pp. 277-280 . https://doi.org/10.1097/ICO.0000000000000713 Cornea, 35(2), 277-280. Lippincott Williams and Wilkins |
| ISSN: | 0277-3740 |
| DOI: | 10.1097/ICO.0000000000000713 |
| Popis: | Item does not contain fulltext PURPOSE: To report an unusual case of bilateral Peters anomaly in Peters Plus syndrome. METHODS: Systematic analysis and description of relevant clinical features, histopathological, and genetic findings. RESULTS: A premature neonate, born after 34 weeks of gestation, presented with typical features of Peters Plus syndrome and bilateral corneal opacification with central clearing. Peters Plus syndrome was confirmed by the identification of a homozygous mutation in the B3GALTL gene. When a flat anterior chamber was observed and perforation was suspected both corneas necessitated corneal transplantation (left cornea transplanted at 4 weeks of age, right cornea at the age of 9 weeks). Histopathological analysis of the left cornea revealed a central defect with absence of all corneal layers except for the corneal epithelium. The right cornea revealed central absence of the corneal endothelium and Descemet membrane as well, but the central stroma consisted of a cellular meshwork rich in fibroblasts. There were no signs of iridocorneal or keratolenticular adhesions. CONCLUSIONS: We report the histopathology of serially obtained left and right cornea of a premature neonate with Peters Plus syndrome. As demonstrated in the left cornea, the child had a central defect of all corneal layers except for the corneal epithelium. Histopathological analysis of the right cornea obtained 5 weeks later revealed that the defect had induced fibrovascular tissue repair. The sequence of events we report in the corneas of our patient may help to better understand the pathogenesis of corneal (and anterior chamber) abnormalities in Peters Plus syndrome. |
| Databáze: | OpenAIRE |
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