WordNet

deviation from the normal or common order or form or rule (同)anomalousness
a person who is unusual (同)unusual person
(astronomy) position of a planet as defined by its angular distance from its perihelion (as observed from the sun)
disciple of Jesus and leader of the Apostles; regarded by Catholics as the vicar of Christ on earth and first Pope (同)Simon_Peter, Saint Peter, St. Peter, Saint Peter the Apostle, St. Peter the Apostle

PrepTutorEJDIC

〈U〉〈C〉変則,例外;異常 / 〈C〉変則的な事態,異例な人(物)
ペテロ(『Saint』(『St.』)~;?‐67?;聖ペテロ(キリストの12使徒のひとり)) / (新約聖書の)ペテロの手紙

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/12/11 18:41:48」(JST)

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Anterior segment dysgenesis (ASD) is a failure of the normal development of the tissues of the anterior segment of the eye. It leads to anomalies in the structure of the mature anterior segment, associated with an increased risk of glaucoma and corneal opacity.

Peters' (frequently misspelled Peter's) anomaly is a specific type of mesenchymal anterior segment dysgenesis, in which there is central corneal leukoma, adhesions of the iris and cornea, and abnormalities of the posterior corneal stroma, Descemet's membrane, corneal endothelium, lens, and anterior chamber.^[1]

History

This congenital anomaly was first described by Albert Peters, a German ophthalmologist (1862-1938).^[2]

Pathophysiology

Several gene mutations have been ridentified underlying these anomalies with the majority of ASD genes encoding transcriptional regulators. In this review, the role of the ASD genes, PITX2 and FOXC1, is considered in relation to the embryology of the anterior segment, the biochemical function of these proteins, and their role in development and disease aetiology. The emerging view is that these genes act in concert to specify a population of mesenchymal progenitor cells, mainly of neural crest origin, as they migrate anteriorly around the embryonic optic cup. These same genes then regulate mesenchymal cell differentiation to give rise to distinct anterior segment tissues. Development appears critically sensitive to gene dosage, and variation in the normal level of transcription factor activity causes a range of anterior segment anomalies. Interplay between PITX2 and FOXC1 in the development of different anterior segment tissues may partly explain the phenotypic variability and the genetic heterogeneity characteristic of ASD.

References

^ Pomella, K. M.; Wagner, H. (1998). "Unilateral Peters' anomaly complicated by a corneal tattoo". Optometry and vision science : official publication of the American Academy of Optometry 75 (9): 635–639. doi:10.1097/00006324-199809000-00017. PMID 9778695. edit
^ doctor/3158 at Who Named It?

UpToDate Contents

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1. 幼児および小児における緑内障の概要 overview of glaucoma in infants and children

English Journal

Peters anomaly in cri-du-chat syndrome.

Hope WC1, Cordovez JA2, Capasso JE2, Hammersmith KM3, Eagle RC4, Lall-Trail J5, Levin AV6.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus.J AAPOS.2015 Jun;19(3):277-9. doi: 10.1016/j.jaapos.2015.01.018.
The cri-du-chat syndrome is a rare genetic disorder caused by deletions in the short arm of chromosome 5. It presents with a distinctive catlike high-pitched cry, psychomotor delays, microcephaly, craniofacial abnormalities, and, in many cases, ocular findings. We report the first child with cri-du-
PMID 26059676

Ultrasound evaluation of glaucoma drainage devices in children.

Baig NB1, Lin AA2, Freedman SF3.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus.J AAPOS.2015 Jun;19(3):281-4. doi: 10.1016/j.jaapos.2015.02.001. Epub 2015 Apr 21.
This study evaluated B-scan ultrasound as a technique for assessing glaucoma drainage device (GDD) patency/function in refractory pediatric glaucoma. We retrospectively evaluated 70 eyes of 52 patients after Ahmed (n = 40 eyes), Baerveldt (n = 27 eyes) and Molteno (n = 5 eyes) GDD implantation; 2 ey
PMID 25907830

Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.

Yahalom C1, Sharon D, Dalia E, Simhon SB, Shemesh E, Blumenfeld A.
Ophthalmic genetics.Ophthalmic Genet.2015 Jun;36(2):175-9. doi: 10.3109/13816810.2015.1005318. Epub 2015 Feb 17.
PURPOSE: To characterize clinical and genetic aspects of a family with a unique combination of two hereditary blinding eye diseases.METHODS: Comprehensive eye examination of proband and family members. Molecular analyses of the TYR and PAX6 genes.RESULTS: A young couple, both legally blind, requeste
PMID 25687215