Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations
Developmental anomalies of the ocular anterior chamber angle may lead to an incomplete development of the structures that form the conventional aqueous outflow pathway. Thus, disorders that present with such dysfunction tend to be associated with glaucoma. Among them, Axenfeld-Rieger (ARS) malformat...
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Wiley
2010-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2010/212656 |
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| author | Mukesh Tanwar Tanuj Dada Rima Dada |
| author_facet | Mukesh Tanwar Tanuj Dada Rima Dada |
| author_sort | Mukesh Tanwar |
| collection | DOAJ |
| description | Developmental anomalies of the ocular anterior chamber angle may lead to an incomplete development of the structures that form the conventional aqueous outflow pathway. Thus, disorders that present with such dysfunction tend to be associated with glaucoma. Among them, Axenfeld-Rieger (ARS) malformation is a rare clinical entity with an estimated prevalence of one in every 200,000 individuals. The changes in eye morphogenesis in ARS are highly penetrant and are associated with 50% risk of development of glaucoma. Mutations in the cytochrome P4501B1 (CYP1B1) gene have been reported to be associated with primary congenital glaucoma and other forms of glaucoma and mutations in pituitary homeobox 2
(PITX2) gene have been identified in ARS in various studies. This case was negative for PITX2 mutations and compound heterozygote for CYP1B1 mutations.
Clinical manifestations of this patient include bilateral elevated intraocular pressure (>40 mmHg) with increased corneal diameter (>14 mm) and corneal opacity. Patient also had iridocorneal adhesions, anteriorly displaced Schwalbe line, anterior insertion of iris, broad nasal bridge and protruding umbilicus. This is the first study from north India reporting CYP1B1 mutations in Axenfeld-Rieger syndrome with bilateral buphthalmos and early onset glaucoma. Result of this study supports the role of CYP1B1 as a causative gene in ASD disorders and its role in oculogenesis. |
| format | Article |
| id | doaj-art-1a2bf8cfeec7472d929def49c1f41cfa |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2010-01-01 |
| publisher | Wiley |
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| series | Case Reports in Medicine |
| spelling | doaj-art-1a2bf8cfeec7472d929def49c1f41cfa2025-02-03T01:23:40ZengWileyCase Reports in Medicine1687-96271687-96352010-01-01201010.1155/2010/212656212656Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene MutationsMukesh Tanwar0Tanuj Dada1Rima Dada2Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, IndiaCentre for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, IndiaLaboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, IndiaDevelopmental anomalies of the ocular anterior chamber angle may lead to an incomplete development of the structures that form the conventional aqueous outflow pathway. Thus, disorders that present with such dysfunction tend to be associated with glaucoma. Among them, Axenfeld-Rieger (ARS) malformation is a rare clinical entity with an estimated prevalence of one in every 200,000 individuals. The changes in eye morphogenesis in ARS are highly penetrant and are associated with 50% risk of development of glaucoma. Mutations in the cytochrome P4501B1 (CYP1B1) gene have been reported to be associated with primary congenital glaucoma and other forms of glaucoma and mutations in pituitary homeobox 2 (PITX2) gene have been identified in ARS in various studies. This case was negative for PITX2 mutations and compound heterozygote for CYP1B1 mutations. Clinical manifestations of this patient include bilateral elevated intraocular pressure (>40 mmHg) with increased corneal diameter (>14 mm) and corneal opacity. Patient also had iridocorneal adhesions, anteriorly displaced Schwalbe line, anterior insertion of iris, broad nasal bridge and protruding umbilicus. This is the first study from north India reporting CYP1B1 mutations in Axenfeld-Rieger syndrome with bilateral buphthalmos and early onset glaucoma. Result of this study supports the role of CYP1B1 as a causative gene in ASD disorders and its role in oculogenesis.http://dx.doi.org/10.1155/2010/212656 |
| spellingShingle | Mukesh Tanwar Tanuj Dada Rima Dada Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations Case Reports in Medicine |
| title | Axenfeld-Rieger Syndrome Associated with Congenital
Glaucoma and Cytochrome P4501B1 Gene Mutations |
| title_full | Axenfeld-Rieger Syndrome Associated with Congenital
Glaucoma and Cytochrome P4501B1 Gene Mutations |
| title_fullStr | Axenfeld-Rieger Syndrome Associated with Congenital
Glaucoma and Cytochrome P4501B1 Gene Mutations |
| title_full_unstemmed | Axenfeld-Rieger Syndrome Associated with Congenital
Glaucoma and Cytochrome P4501B1 Gene Mutations |
| title_short | Axenfeld-Rieger Syndrome Associated with Congenital
Glaucoma and Cytochrome P4501B1 Gene Mutations |
| title_sort | axenfeld rieger syndrome associated with congenital glaucoma and cytochrome p4501b1 gene mutations |
| url | http://dx.doi.org/10.1155/2010/212656 |
| work_keys_str_mv | AT mukeshtanwar axenfeldriegersyndromeassociatedwithcongenitalglaucomaandcytochromep4501b1genemutations AT tanujdada axenfeldriegersyndromeassociatedwithcongenitalglaucomaandcytochromep4501b1genemutations AT rimadada axenfeldriegersyndromeassociatedwithcongenitalglaucomaandcytochromep4501b1genemutations |