| H01075 | |
| H number | H01075 |
| Name | Peters anomaly |
| Description | Peters anomaly is a subtype of anterior segment dysgenesis. It is a developmental disorder that presents with central corneal opacity (leukoma), iris and lenticular adhesions to the cornea, and lack of the posterior corneal stroma, and Descemet's membrane. Approximately half of patients develop glaucoma. The majority of cases are sporadic; however, autosomal recessive and dominant patterns of inheritance have been found. Peters-plus syndrome is a rare autosomal recessive genetic disorder including ocular features, systemic malformations, and variable degree of developmental delay. It is caused by mutations in B3GALTL gene. |
| Category | Congenital malformation |
| Network | - |
| Gene | B3GALTL [HSA:145173] [KO:K13675] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA11.Y ICD-10: Q13.4 MeSH: C537884 OMIM: 261540 |
| Reference | PMID:21633242 AUTHORS Girgis N, Chen TC TITLE Genetics of the pediatric glaucomas. JOURNAL Int Ophthalmol Clin 51:107-17 (2011) DOI:10.1097/IIO.0b013e31821e538b PMID:21738392 AUTHORS Mataftsi A, Islam L, Kelberman D, Sowden JC, Nischal KK TITLE Chromosome abnormalities and the genetics of congenital corneal opacification. JOURNAL Mol Vis 17:1624-40 (2011) PMID:21448066 AUTHORS Bhandari R, Ferri S, Whittaker B, Liu M, Lazzaro DR TITLE Peters anomaly: review of the literature. JOURNAL Cornea 30:939-44 (2011) DOI:10.1097/ICO.0b013e31820156a9 PMID:12015278 AUTHORS Gould DB, John SW TITLE Anterior segment dysgenesis and the developmental glaucomas are complex traits. JOURNAL Hum Mol Genet 11:1185-93 (2002) DOI:10.1093/hmg/11.10.1185 PMID:27218149 AUTHORS Khan SY, Vasanth S, Kabir F, Gottsch JD, Khan AO, Chaerkady R, Lee MC, Leitch CC, Ma Z, Laux J, Villasmil R, Khan SN, Riazuddin S, Akram J, Cole RN, Talbot CC, Pourmand N, Zaghloul NA, Hejtmancik JF, Riazuddin SA TITLE FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. JOURNAL Nat Commun 7:10953 (2016) DOI:10.1038/ncomms10953 PMID:19796186 AUTHORS Dassie-Ajdid J, Causse A, Poidvin A, Granier M, Kaplan J, Burglen L, Doummar D, Teisseire P, Vigouroux A, Malecaze F, Calvas P, Chassaing N TITLE Novel B3GALTL mutation in Peters-plus Syndrome. JOURNAL Clin Genet 76:490-2 (2009) DOI:10.1111/j.1399-0004.2009.01253.x |