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Journal articles on the topic 'Rieger Syndrome'

Author: Grafiati

Published: 8 September 2021

Last updated: 29 July 2025

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1

Seifi, M., and M. A. Walter. "Axenfeld-Rieger syndrome." Clinical Genetics 93, no. 6 (2018): 1123–30. http://dx.doi.org/10.1111/cge.13148.

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2

Sauer, A., and C. Speeg-Schatz. "Syndrome d’Axenfeld-Rieger." Journal Français d'Ophtalmologie 35, no. 5 (2012): 392. http://dx.doi.org/10.1016/j.jfo.2011.10.005.

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3

Bengarai, W., H. Chokrani, and A. Berraho. "Axenfeld-Rieger syndrome." Journal Français d'Ophtalmologie 41, no. 5 (2018): 470–71. http://dx.doi.org/10.1016/j.jfo.2017.10.010.

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4

O'Marcaigh, Aengus S., Lora B. Folz, and Virginia V. Michels. "Umbilical Morphology: Normal Values for Neonatal Periumbilical Skin Length." Pediatrics 90, no. 1 (1992): 47–49. http://dx.doi.org/10.1542/peds.90.1.47.

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Malformations of the umbilicus are a feature of many dysmorphic syndromes including Rieger syndrome, Robinow syndrome, and Aarskog syndrome. The characteristic umbilical malformation in Rieger syndrome consists of redundant periumbilical skin which extends along the cord for an excessive distance. Although the measurement of umbilical skin length plays an important role in the neonatal diagnosis of Rieger syndrome, normal values for this measurement in healthy neonates have not been established. Umbilical skin length was measured in 104 healthy neonates. The length to which the umbilical skin

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5

Skogedal, N., and H. Nordgarden. "Case Report: Rieger Syndrome." European Archives of Paediatric Dentistry 8, S1 (2007): 39–41. http://dx.doi.org/10.1007/bf03262609.

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6

Kumar Jena, Dr Ashok, and Dr Om Kharbanda. "Axenfeld-Rieger Syndrome: Report on dental and craniofacial findings." Journal of Clinical Pediatric Dentistry 30, no. 1 (2006): 83–88. http://dx.doi.org/10.17796/jcpd.30.1.v1732398454r0244.

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Axenfeld-Rieger syndrome is a rare autosomal dominant disorder characterized by various ocular and extraocular malformations. Dental abnormalities are considered as definitive features for the diagnosis and differentiation of Rieger syndrome from other anterior chamber of the eye malformations. A case of Rieger syndrome with distinct dental and craniofacial anomalies is described. Significant cranio-dento-facial findings that have been observed are, teeth with short and dilacerated roots, hyperplastic frenums and underdeveloped maxilla. There was an anterior crossbite, bilateral posterior open

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7

Kavadia, Smaragda, Konstantinos Antoniades, Eleni Markovitsi, and Eleftherios G. Kaklamanos. "The Rieger Syndrome: a Case Report with Unusual Dental Findings." Balkan Journal of Dental Medicine 22, no. 1 (2018): 53–56. http://dx.doi.org/10.2478/bjdm-2018-0010.

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SummaryBackground/Aim: The Rieger syndrome is a rare, autosomal dominant and phenotypically variable disorder, characterized by abnormalities of the anterior chamber of the eye, coincident with missing or misshapen teeth. Case report: This report features a case of the Rieger syndrome associated with bilateral cleft lip and palate and a severe open bite, findings not usually reported in association with this condition. Conclusions: The findings described in the present case of Rieger syndrome are unusual and expand the spectrum of manifestations of the condition.

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8

Wang, Y., H. Zhao, X. Zhang, and H. Feng. "Novel Identification of a Four-base-pair Deletion Mutation in PITX2 in a Rieger Syndrome Family." Journal of Dental Research 82, no. 12 (2003): 1008–12. http://dx.doi.org/10.1177/154405910308201214.

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Rieger syndrome is one of the most serious causes of tooth agenesis. Mutations in the PITX2, FOXC1, and PAX6 genes have been associated with Rieger syndrome. We have studied a three-generation Chinese family affected with Rieger syndrome and showing prominent dental abnormalities. Mutational screening and sequence analysis of the PITX2 gene revealed a previously unidentified four-base-pair deletion of nucleotides 717-720 in exon 5 in all affected members. The mutation causes a frame shift after Thr44, the 7th amino acid of the homeo-domain, and introduces a premature stop codon in the gene seq

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9

Lacorzana, J., R. Rocha-da Silva, J. D. Sánchez-García, R. Rachwani-Anil, and J. D. Martínez. "Rieger anomaly and Axenfeld-Rieger syndrome: a rare anterior segment dysgenesis." ACTUALIDAD MEDICA 106, no. 106(813) (2021): 218–21. http://dx.doi.org/10.15568/am.2021.813.cc06.

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Axenfeld Rieger Syndrome is anterior segment dysgenesis characterized by posterior embryotoxon and dysgenesis of the anterior chamber. Developmental abnormalities of the anterior angle cause increased resistance to outflow. Ocular hypertension is a complication in almost 50% of the cases. It is an autosomal dominant disease and its prevalence is between 50,000 and 100,000 newborns per year. The main associated affected genes are FOXC1 and PITX2, occurring in 40% of the cases. Axenfeld Rieger Syndrome can be associated with systemic manifestations such as dental anomalies (hypodontia and microd

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10

Ould Hamed, Mohamed Abdallahi. "Axenfeld-Rieger Syndrome: Photo Essay." Journal of Ophthalmology & Clinical Research 5, no. 2 (2018): 1–2. http://dx.doi.org/10.24966/ocr-8887/100042.

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11

A F, Tasneem, Vittal Nayak I, Shwetha B A, and Ali Akbar Jafarian Lari. "CASE REPORT: AXENFELD-RIEGER SYNDROME." Journal of Evolution of Medical and Dental Sciences 3, no. 21 (2014): 5945–49. http://dx.doi.org/10.14260/jemds/2014/2686.

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12

Unsal, Erkan, Yeliz Acar, and Kadir Eltutar. "Unilateral Case, Axenfeld-Rieger Syndrome." Istanbul Medical Journal 15, no. 2 (2014): 127–30. http://dx.doi.org/10.5152/imj.2014.16056.

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13

Patil, Karthikeya, Sanjay Chikkarasinakere Jogigowda, Varusha Sharon Christopher, and Eswari Solayappan. "Insights into Axenfeld-Rieger syndrome." BMJ Case Reports 17, no. 11 (2024): e261653. https://doi.org/10.1136/bcr-2024-261653.

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Axenfeld-Rieger syndrome (ARS) is an exceptionally uncommon genetic disorder characterised by spontaneous occurrence and autosomal dominant inheritance. Its prevalence is estimated at 1:200 000 in the general population. This condition is hallmarked by aberrant anterior segment development of the eye, accompanied by a spectrum of dental, craniofacial and somatic anomalies. The heterogeneous presentation of ARS poses significant diagnostic challenges for clinicians. A comprehensive diagnostic evaluation and multidisciplinary approach are imperative for the identification of this rare syndrome.

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14

Dimitrakopoulos, John, Nick Voyatzis, and Theodora Katopodi. "Rieger syndrome: A case report." Journal of Oral and Maxillofacial Surgery 55, no. 5 (1997): 517–21. http://dx.doi.org/10.1016/s0278-2391(97)90706-0.

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15

Seong, Min-Kyoung, Teo-Jeon Shin, Young-Jae Kim, et al. "AXENFELD-RIEGER SYNDROME WITH DENTAL PROBLEM : A CASE REPORT." Journal of Korea Assosiation for Disability and Oral Health 8, no. 2 (2012): 113–17. http://dx.doi.org/10.12655/jkdoh.2012.8.2.113.

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16

Çağlar, Çağatay, Muhammed Batur, Erbil Seven, Serek Tekin, and Tekin Yaşar. "Congenital Hypothyroidism in Axenfeld-Rieger Syndrome." Eastern Journal Of Medicine 22, no. 4 (2017): 208–10. http://dx.doi.org/10.5505/ejm.2017.07269.

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17

Parikh, RajulS, ShefaliR Parikh, B. Debashish, BL Harsha, and Ravi Thomas. "Unusual presentation in Axenfeld-Rieger syndrome." Indian Journal of Ophthalmology 59, no. 4 (2011): 312. http://dx.doi.org/10.4103/0301-4738.82003.

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18

Sharma, Kunal, Anon Neha, M. L. Pandey, Vineet Gupta, and Pankaj Saini. "Axenfeld-Rieger Syndrome–A Rare Phenomenon." Indian Journal of Public Health Research & Development 11, no. 2 (2020): 941. http://dx.doi.org/10.37506/v11/i2/2020/ijphrd/194937.

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19

Espinosa-Barberi, Glenda, José Francisco Galván González, and Alfonso Antón. "Ocular hypertension in Axenfeld-Rieger Syndrome." romanian journal of ophthalmology 64, no. 4 (2020): 455–58. http://dx.doi.org/10.22336/rjo.2020.70.

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20

Ma, Jin, Yong Zhong, Chan Zhao, et al. "Axenfeld-Rieger Syndrome in Monozygotic Twins." Journal of Glaucoma 20, no. 9 (2011): 584–86. http://dx.doi.org/10.1097/ijg.0b013e3181f7b258.

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21

O'DWYER, E. M., and D. C. JONES. "Dental anomalies in Axenfeld-Rieger syndrome." International Journal of Paediatric Dentistry 15, no. 6 (2005): 459–63. http://dx.doi.org/10.1111/j.1365-263x.2005.00639.x.

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22

Amendt, Brad A., Lillian B. Sutherland, Elena V. Semina, and Andrew F. Russo. "The Molecular Basis of Rieger Syndrome." Journal of Biological Chemistry 273, no. 32 (1998): 20066–72. http://dx.doi.org/10.1074/jbc.273.32.20066.

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23

Ayşenur Paç, F., Deniz N. Çağdaş, and M. Necati Demir. "Axenfeld–Rieger syndrome and pseudotruncus arteriosus." International Journal of Cardiology 126, no. 1 (2008): e4-e7. http://dx.doi.org/10.1016/j.ijcard.2006.12.086.

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24

Rastogi, Anju, Shilpa Goel, Savleen Kaur, and Prem Vardhan. "Microspherophakia associated with Axenfeld-Rieger syndrome." Journal of American Association for Pediatric Ophthalmology and Strabismus 14, no. 4 (2010): 364–66. http://dx.doi.org/10.1016/j.jaapos.2010.03.004.

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25

Dunbar, A. Craig, Grant T. McIntyre, Sean Laverick, and Brian Stevenson. "Axenfeld–Rieger syndrome: a case report." Journal of Orthodontics 42, no. 4 (2015): 324–30. http://dx.doi.org/10.1179/1465313315y.0000000017.

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26

Ligutić, Ivo, Lukrecija Brečević, Iskra Petković, Teodora Kalogjera, and Zdravko Rajić. "Interstitial deletion 4q and Rieger syndrome." Clinical Genetics 20, no. 5 (2008): 323–27. http://dx.doi.org/10.1111/j.1399-0004.1981.tb01042.x.

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27

Spallone, A. "Retinal detachment in Axenfeld-Rieger syndrome." British Journal of Ophthalmology 73, no. 7 (1989): 559–62. http://dx.doi.org/10.1136/bjo.73.7.559.

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28

Chekhchar, M., A. Charadi, A. Achibane, I. Hajji, and A. Moutaouakil. "Axenfeld-Rieger syndrome: A case report." Journal Français d'Ophtalmologie 42, no. 4 (2019): e157-e158. http://dx.doi.org/10.1016/j.jfo.2018.08.014.

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29

Pirih, Flavia Q., Maísa Casarin, Jeniffer Perussolo, et al. "Rieger Syndrome: Rehabilitation With Dental Implants." Clinical Advances in Periodontics 9, no. 4 (2019): 172–76. http://dx.doi.org/10.1002/cap.10065.

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30

Chan, Chi-Chao. "Congenital Iridocorneal Malformation in Rieger Syndrome." Archives of Ophthalmology 121, no. 4 (2003): 582. http://dx.doi.org/10.1001/archopht.121.4.582.

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31

Weisschuh, Nicole. "Digenic Inheritance in Axenfeld Rieger Syndrome." Human Mutation 32, no. 10 (2011): iv. http://dx.doi.org/10.1002/humu.21593.

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32

Gupta, Dr Shalu, and Dr Mohammad Shahid Khan. "Axenfeld-rieger syndrome: A case report." International Journal of Medical Ophthalmology 4, no. 2 (2022): 37–39. http://dx.doi.org/10.33545/26638266.2022.v4.i2a.126.

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33

Ozeki, H., Shoichiro Shirai, Kozo Ikeda, and Yuichiro Ogura. "Anomalies associated with Axenfeld-Rieger syndrome." Graefe's Archive for Clinical and Experimental Ophthalmology 237, no. 9 (1999): 730–34. http://dx.doi.org/10.1007/s004170050304.

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34

Balgazina, O. R., A. K. Disbiyanova, O. I. Orenburkina, and A. E. Babushkin. "Axenfeld-Rieger syndrome. Family clinical case." POINT OF VIEW. EAST – WEST 11, no. 2 (2024): 65–69. https://doi.org/10.25276/2410-1257-2024-2-65-69.

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The article presents a family case of Axenfeld – Rieger syndrome. This pathology, which is a rare type of genetic disease and invariably arouses high interest among ophthalmologists, was diagnosed in a 6-year-old boy, his mother and grandmother. At the age of 5, the child underwent penetrating keratoplasty of the right eye, 3 months after which graft disease developed, followed by opacification and increased intraocular pressure (IOP). As a treatment for this condition, anti-inflammatory (including steroid) and local antihypertensive therapy was prescribed, and to relieve uncompensated ophthal

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35

Hjalt, Tord A., Brad A. Amendt, and Jeffrey C. Murray. "Pitx2 Regulates Procollagen Lysyl Hydroxylase (Plod) Gene Expression." Journal of Cell Biology 152, no. 3 (2001): 545–52. http://dx.doi.org/10.1083/jcb.152.3.545.

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The Rieger syndrome is an autosomal dominant disease characterized by ocular, craniofacial, and umbilical defects. Patients have mutations in PITX2, a paired-bicoid homeobox gene, also involved in left/right polarity determination. In this study we have identified a family of genes for enzymes responsible for hydroxylizing lysines in collagens as one group of likely cognate targets of PITX2 transcriptional regulation. The mouse procollagen lysyl hydroxylase (Plod)-2 gene was enriched for by chromatin precipitation using a PITX2/Pitx2-specific antibody. Plod-2, as well as the human PLOD-1 promo

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36

Khan, Arif O. "ADAMTS18-related anterior segment dysgenesis mistaken as Axenfeld–Rieger syndrome." Taiwan Journal of Ophthalmology 13, no. 4 (2023): 540–42. http://dx.doi.org/10.4103/tjo.tjo-d-23-00034.

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Axenfeld–Rieger spectrum is a range of anterior segment dysgenesis (ASD) phenotypes often related to heterozygous pathogenic variants in the ocular transcription factor genes FOXC1 or PITX2. Microcornea with myopic chorioretinal atrophy, a less common ASD, is distinct, recognizable, and secondary to biallelic pathogenic variants in the metalloproteinase gene ADAMTS18. This report describes the case of a boy with ADAMTS18-related ASD that was mistaken for Axenfeld–Rieger syndrome and highlights distinguishing features.

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37

Cholera, Priyadarshini, Ashwattha Shetty, Nita shanbhag, and Taran Wanage. "A RARE CASE OF AXENFELD - RIEGER SYNDROME." Journal of Evidence Based Medicine and Healthcare 2, no. 46 (2015): 8301–3. http://dx.doi.org/10.18410/jebmh/2015/1121.

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38

Singh, Shilpa. "Axenfeld Rieger Syndrome: A Rare Developmental Disorder." Delhi Journal of Ophthalmology 24, no. 4 (2014): 263–65. http://dx.doi.org/10.7869/djo.56.

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39

Chang, Ta C., C. Gail Summers, Lisa A. Schimmenti, and Alana L. Grajewski. "Axenfeld-Rieger syndrome: new perspectives: Figure 1." British Journal of Ophthalmology 96, no. 3 (2011): 318–22. http://dx.doi.org/10.1136/bjophthalmol-2011-300801.

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40

PILLAI, MANJU, CHINMAYEE PABOLU, and SAMEER CHAUDHARY. "Detached Schwalbe line in Axenfeld–Rieger syndrome." National Medical Journal of India 37 (October 22, 2024): 230. http://dx.doi.org/10.25259/nmji_382_2023.

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41

Tsai, James C., and Alana L. Grajewski. "Cardiac Valvular Disease and Axenfeld-Rieger Syndrome." American Journal of Ophthalmology 118, no. 2 (1994): 255–56. http://dx.doi.org/10.1016/s0002-9394(14)72910-1.

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42

Hjalt, Tord A., and Elena V. Semina. "Current molecular understanding of Axenfeld–Rieger syndrome." Expert Reviews in Molecular Medicine 7, no. 25 (2005): 1–17. http://dx.doi.org/10.1017/s1462399405010082.

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Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant inherited disorder affecting the development of the eyes, teeth and abdomen. The syndrome is characterised by complete penetrance but variable expressivity. The ocular component of the ARS phenotype has acquired most clinical attention and has been dissected into a spectrum of developmental eye disorders, of which open-angle glaucoma represents the main challenge in terms of treatment. Mutations in several chromosomal loci have been implicated in ARS, including PITX2, FOXC1 and PAX6. Full-spectrum ARS is caused primarily by mutations

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43

Boese, Erin A., Douglas B. Critser, and John H. Fingert. "High Iris Insertion in Axenfeld-Rieger Syndrome." Ophthalmology 127, no. 6 (2020): 768. http://dx.doi.org/10.1016/j.ophtha.2020.02.012.

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44

Riise, Ruth, Kari Storhaug, and Karen Brøndum-Nielsen. "Rieger syndrome is associated with PAX6 deletion." Acta Ophthalmologica Scandinavica 79, no. 2 (2001): 201–3. http://dx.doi.org/10.1034/j.1600-0420.2001.079002201.x.

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45

Roquancourt, T., E. Desmarez, and J. F. Rouland. "Syndrome d’Axenfeld-Rieger, à propos d’un cas." Journal Français d'Ophtalmologie 39, no. 4 (2016): 402–3. http://dx.doi.org/10.1016/j.jfo.2016.02.002.

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46

Brarou, Houda, Samah Sadiki, Zakaria Chaibi, et al. "Axenfeld-Rieger Syndrome (ARS): A Case Report." Scholars Journal of Applied Medical Sciences 12, no. 05 (2024): 539–40. http://dx.doi.org/10.36347/sjams.2024.v12i05.006.

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Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant condition manifesting as a heterogeneous group of features. Of particular note are the ocular and craniofacial anomalies and dental features such as hypodontia, microdontia, taurodontism, enamel hypoplasia, conical-shaped teeth, shortened roots and delayed eruption. We report the case of a 23 years old female patient, who presented to the ophthalmology department for a routine eye chek-up. The ophthalmological examination showed vertical cup-to-disc ratio of 0,6 in the right eye and 0,7 in the left eye with normal intra ocular pressur

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47

Starostina, Anna V., Alla V. Sidorova, Konstantin S. Burlakov, and Matgarita R. Khabazova. "Glaucoma in Axenfeld–Rieger Syndrome. A Clinical Case." Journal of Clinical Practice 14, no. 3 (2023): 112–18. http://dx.doi.org/10.17816/clinpract532720.

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Background: AxenfeldRieger syndrome is a genetically heterogeneous group of morphogenesis disorders associated with abnormal development of the anterior segment of the eye, teeth, the organ of hearing, and abdominal region. Сongenital glaucoma, which is refractory to standard methods of treatment due to pronounced changes in the structures of the anterior segment of the eyeball and other comorbidities, is frequent manifestation of this syndrome. There are several methods for treating glaucoma in patients with AxenfeldRieger syndrome: sinus trabeculectomy, implantation of drainage devices and t

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48

Doward, W., R. Perveen, I. C. Lloyd, A. E. A. Ridgway, L. Wilson, and G. C. M. Black. "A mutation in the RIEG1 gene associated with Peters’ anomaly." Journal of Medical Genetics 36, no. 2 (1999): 152–55. http://dx.doi.org/10.1136/jmg.36.2.152.

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Mutations within the RIEG1 homeobox gene on chromosome 4q25 have previously been reported in association with Rieger syndrome. We report a 3′ splice site mutation within the 3rd intron of the RIEG1 gene which is associated with unilateral Peters’ anomaly. The mutation is a single base substition of A to T at the invariant -2 site of the 3′ splice site. Peters’ anomaly, which is characterised by ocular anterior segment dysgenesis and central corneal opacification, is distinct from Rieger anomaly. This is the first description of a RIEG1 mutation associated with Peters’ anomaly.

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49

Barber, Chris. "Rare health conditions 58: amniotic band syndrome, Axenfeld-Rieger syndrome, adult neuronal ceroid lipofuscinosis, Hashimoto's syndrome and pseudomyxoma peritonei." British Journal of Healthcare Assistants 16, no. 5 (2022): 220–25. http://dx.doi.org/10.12968/bjha.2022.16.5.220.

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The purpose of this series is to highlight a range of rare health conditions. Rare health conditions are those that affect no more and usually fewer than one person in every 2000 and many HCAs and nurses will encounter some of these conditions given the high number of them. This 58th article will briefly explore five of these conditions: amniotic band syndrome; Axenfeld-Rieger syndrome; adult neuronal ceroid lipofuscinosis; Hashimoto's syndrome; and pseudomyxoma peritonei.

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50

Geyer, Orna, Anat Loewenstein, Ben Zion Garty, and Moshe Lazar. "Different Manifestation of Rieger Syndrome in Monozygotic Twins." Journal of Pediatric Ophthalmology & Strabismus 31, no. 1 (1994): 57–58. http://dx.doi.org/10.3928/0191-3913-19940101-14.

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