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1

Stahl, Erin D. "Anterior Segment Dysgenesis." International Ophthalmology Clinics 54, no. 3 (2014): 95–104. http://dx.doi.org/10.1097/iio.0000000000000031.

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2

Banitt, M. R., A. Romano, S. Iragavarapu, D. L. Budenz, and R. K. Lee. "Forme fruste anterior segment dysgenesis." British Journal of Ophthalmology 95, no. 12 (August 30, 2010): 1756–57. http://dx.doi.org/10.1136/bjo.2009.177535.

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3

Cook, Cynthia S. "Experimental models of anterior segment dysgenesis." Ophthalmic Paediatrics and Genetics 10, no. 1 (January 1989): 33–46. http://dx.doi.org/10.3109/13816818909083771.

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4

Reis, Linda M., and Elena V. Semina. "Genetics of anterior segment dysgenesis disorders." Current Opinion in Ophthalmology 22, no. 5 (September 2011): 314–24. http://dx.doi.org/10.1097/icu.0b013e328349412b.

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5

Churchill, A., and A. Booth. "Genetics of aniridia and anterior segment dysgenesis." British Journal of Ophthalmology 80, no. 7 (July 1, 1996): 669–73. http://dx.doi.org/10.1136/bjo.80.7.669.

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6

Lloyd, I. C., P. M. Haigh, J. Clayton-Smith, P. Clayton, D. A. Price, A. E. A. Ridgway, and D. Donnai. "Anterior segment dysgenesis in mosaic Turner syndrome." British Journal of Ophthalmology 81, no. 8 (August 1, 1997): 639–43. http://dx.doi.org/10.1136/bjo.81.8.639.

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7

Harissi-Dagher, Mona, and Kathryn Colby. "Anterior Segment Dysgenesis: Peters Anomaly and Sclerocornea." International Ophthalmology Clinics 48, no. 2 (2008): 35–42. http://dx.doi.org/10.1097/iio.0b013e318169526c.

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8

Ito, Yoko A., and Michael A. Walter. "Genomics and anterior segment dysgenesis: a review." Clinical & Experimental Ophthalmology 42, no. 1 (July 29, 2013): 13–24. http://dx.doi.org/10.1111/ceo.12152.

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9

Williams, D. L. "A comparative approach to anterior segment dysgenesis." Eye 7, no. 5 (September 1993): 607–16. http://dx.doi.org/10.1038/eye.1993.142.

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10

Bloch, Edward, Maria Pefkianaki, and Jamil Hakim. "An unusual case of bilateral pigmented maculopathy and anterior segment dysgenesis." European Journal of Ophthalmology 28, no. 2 (August 11, 2017): 253–55. http://dx.doi.org/10.5301/ejo.5001073.

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Purpose: Pigmentary maculopathy can occur in the context of various inherited and acquired diseases. Anterior segment dysgenesis arises due to developmental anomalies and may be associated with systemic disease, as in Rieger syndrome. Case report: A 49-year-old woman presented with longstanding reduction in vision, evidence of anterior segment dysgenesis, and multiple discrete pigmented lesions throughout the macula bilaterally. Electroretinographic findings were consistent with severe macular dysfunction. Gene array analysis did not reveal any chromosomal imbalances or other specific abnormalities. Conclusions: This is a unique case of bilateral pigmentary maculopathy and anterior segment dysgenesis, with clinical findings that are not characteristic of previously reported disease.
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11

Ghose, Supriyo, Narinder Pal Singh, Daljeet Kaur, and Ishwar Chander Verma. "Microphthalmos and anterior segment dysgenesis in a family." Ophthalmic Paediatrics and Genetics 12, no. 4 (January 1991): 177–82. http://dx.doi.org/10.3109/13816819109025814.

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12

Sowden, J. C. "Molecular and developmental mechanisms of anterior segment dysgenesis." Eye 21, no. 10 (October 2007): 1310–18. http://dx.doi.org/10.1038/sj.eye.6702852.

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13

Quinn, S. M., G. C. M. Black, S. Biswas, J. Clayton-Smith, and I. C. Lloyd. "Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis." Ophthalmic Genetics 25, no. 4 (January 2004): 277–83. http://dx.doi.org/10.1080/13816810490902684.

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14

Kaushik, Sushmita, Deepika Dhingra, Gunjan Joshi, and SurinderS Pandav. "Anterior segment dysgenesis and secondary glaucoma in Goldenhar syndrome." Indian Journal of Ophthalmology 67, no. 10 (2019): 1751. http://dx.doi.org/10.4103/ijo.ijo_301_19.

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15

Barkana, Yaniv, Nadav Shoshany, Zina Almer, and Eran Pras. "Familial Juvenile Normal-tension Glaucoma With Anterior Segment Dysgenesis." Journal of Glaucoma 22, no. 6 (August 2013): 510–14. http://dx.doi.org/10.1097/ijg.0b013e318255dbcf.

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16

Khokhar, Sudarshan, Shikha Gupta, Tarun Arora, Varun Gogia, and Tanuj Dada. "Unilateral persistent fetal vasculature coexisting with anterior segment dysgenesis." International Ophthalmology 33, no. 4 (March 16, 2013): 399–401. http://dx.doi.org/10.1007/s10792-013-9757-z.

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17

Gould, D. B. "Anterior segment dysgenesis and the developmental glaucomas are complex traits." Human Molecular Genetics 11, no. 10 (May 15, 2002): 1185–93. http://dx.doi.org/10.1093/hmg/11.10.1185.

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18

Datta, Himadri, and Sumana Datta. "Anterior segment dysgenesis and absent lens caused by amniotic bands." Clinical Dysmorphology 12, no. 1 (January 2003): 69–71. http://dx.doi.org/10.1097/00019605-200301000-00013.

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19

Choi, Alex, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Wasima Mayer, Tanya Bardakjian, Gary M. Shaw, Pui-yan Kwok, Adele Schneider, and Anne Slavotinek. "Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis." European Journal of Human Genetics 23, no. 3 (June 18, 2014): 337–41. http://dx.doi.org/10.1038/ejhg.2014.119.

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20

D'HAENE, B. "Study of candidate genes for ocular anterior segment dysgenesis (ASD)." Acta Ophthalmologica 86 (September 2008): 0. http://dx.doi.org/10.1111/j.1755-3768.2008.6341.x-i1.

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21

Vasilyeva, T. A., A. A. Voskresenskaya, O. V. Khlebnikova, N. A. Pozdeyeva, A. V. Marakhonov, and R. A. Zinchenko. "GENETIC APPROACHES TO DIFFERENTIAL DIAGNOSIS OF HEREDITARY FORMS OF CONGENITAL ANIRIDIA." Annals of the Russian academy of medical sciences 72, no. 4 (July 25, 2017): 233–41. http://dx.doi.org/10.15690/vramn834.

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Congenital aniridia (AN) is a hereditary autosomal dominant developmental disorder of the eye. Heterozygous mutations in the PAX6 gene and chromosomal rearrangements involving the 11p13 locus lie behind the pathogenesis of the AN. The key role of the PAX6 gene in the regulation of embryogenesis and the pleiotropic effect of this transcription factor explain the damage of several tissues of the anterior and posterior segments of the eye, brain structures, and the disturbance of morphogenesis and endocrine function of the pancreas observed in AN. Recently AN has been considered a syndromic pathology by several researchers. The review suggests classification and summarizes information on the clinical characteristics and genetic basis of various forms of AN. The problem of discrimination of clinical-genetic variants of the dysgenesis of the anterior segment of the eye and the differential diagnosis of PAX6-associated AN with WAGR syndrome, anterior dysgenesis, other rare monogenic and chromosomal syndromes is discussed, and the role of molecular diagnostics is emphasized.
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22

Reneker, L. W., D. W. Silversides, L. Xu, and P. A. Overbeek. "Formation of corneal endothelium is essential for anterior segment development - a transgenic mouse model of anterior segment dysgenesis." Development 127, no. 3 (February 1, 2000): 533–42. http://dx.doi.org/10.1242/dev.127.3.533.

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The anterior segment of the vertebrate eye is constructed by proper spatial development of cells derived from the surface ectoderm, which become corneal epithelium and lens, neuroectoderm (posterior iris and ciliary body) and cranial neural crest (corneal stroma, corneal endothelium and anterior iris). Although coordinated interactions between these different cell types are presumed to be essential for proper spatial positioning and differentiation, the requisite intercellular signals remain undefined. We have generated transgenic mice that express either transforming growth factor (alpha) (TGF(alpha)) or epidermal growth factor (EGF) in the ocular lens using the mouse (alpha)A-crystallin promoter. Expression of either growth factor alters the normal developmental fate of the innermost corneal mesenchymal cells so that these cells often fail to differentiate into corneal endothelial cells. Both sets of transgenic mice subsequently manifest multiple anterior segment defects, including attachment of the iris and lens to the cornea, a reduction in the thickness of the corneal epithelium, corneal opacity, and modest disorganization in the corneal stroma. Our data suggest that formation of a corneal endothelium during early ocular morphogenesis is required to prevent attachment of the lens and iris to the corneal stroma, therefore permitting the normal formation of the anterior segment.
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23

Karamursel Akpek, Esen, Albert S. Jun, Daniel F. Goodman, W. Richard Green, and John D. Gottsch. "Clinical and ultrastructural features of a novel hereditary anterior segment dysgenesis." Ophthalmology 109, no. 3 (March 2002): 513–19. http://dx.doi.org/10.1016/s0161-6420(01)00975-7.

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24

Mao, Mao, Márton Kiss, Yvonne Ou, and Douglas B. Gould. "Genetic dissection of anterior segment dysgenesis caused by aCol4a1mutation in mouse." Disease Models & Mechanisms 10, no. 4 (February 24, 2017): 475–85. http://dx.doi.org/10.1242/dmm.027888.

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25

Mao, Mao, Richard S. Smith, Marcel V. Alavi, Jeffrey K. Marchant, Mihai Cosma, Richard T. Libby, Simon W. M. John, and Douglas B. Gould. "Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma inCol4a1Mutant Mice." Investigative Opthalmology & Visual Science 56, no. 11 (October 22, 2015): 6823. http://dx.doi.org/10.1167/iovs.15-17527.

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26

Wiggs, Janey L. "CPAMD8, a New Gene for Anterior Segment Dysgenesis and Childhood Glaucoma." Ophthalmology 127, no. 6 (June 2020): 767–68. http://dx.doi.org/10.1016/j.ophtha.2020.02.035.

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27

Mao, Mao, Adam Hedberg-Buenz, Demelza Koehn, Simon W. M. John, and Michael G. Anderson. "Anterior Segment Dysgenesis and Early-Onset Glaucoma inneeMice with Mutation ofSh3pxd2b." Investigative Opthalmology & Visual Science 52, no. 5 (April 21, 2011): 2679. http://dx.doi.org/10.1167/iovs.10-5993.

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28

Shigeyasu, Chika, Masakazu Yamada, Yoshinobu Mizuno, Tadashi Yokoi, Sachiko Nishina, and Noriyuki Azuma. "Clinical Features of Anterior Segment Dysgenesis Associated With Congenital Corneal Opacities." Cornea 31, no. 3 (March 2012): 293–98. http://dx.doi.org/10.1097/ico.0b013e31820cd2ab.

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29

Ma, A. S., J. R. Grigg, and R. V. Jamieson. "Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis." Human Genetics 138, no. 8-9 (September 21, 2018): 899–915. http://dx.doi.org/10.1007/s00439-018-1935-7.

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30

Chavarria-Soley, Gabriela, Karin Michels-Rautenstrauss, Almuth Caliebe, Monika Kautza, Christian Mardin, and Bernd Rautenstrauss. "Novel CYP1B1 and Known PAX6 Mutations in Anterior Segment Dysgenesis (ASD)." Journal of Glaucoma 15, no. 6 (December 2006): 499–504. http://dx.doi.org/10.1097/01.ijg.0000243467.28590.6a.

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31

Shields, Rebecca A., Kara M. Cavuoto, Craig A. McKeown, and Ta C. Chang. "Unilateral foveal hypoplasia in a child with bilateral anterior segment dysgenesis." Clinical Case Reports 3, no. 7 (June 13, 2015): 676–78. http://dx.doi.org/10.1002/ccr3.319.

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32

Wilson, M. Edward. "Congenital Iris Ectropion and a New Classification for Anterior Segment Dysgenesis." Journal of Pediatric Ophthalmology & Strabismus 27, no. 1 (January 1990): 48–55. http://dx.doi.org/10.3928/0191-3913-19900101-13.

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33

Singh, Swati. "Duplication of iris stroma: A rare case of anterior segment dysgenesis." Indian Journal of Ophthalmology - Case Reports 1, no. 2 (2021): 173. http://dx.doi.org/10.4103/ijo.ijo_2526_20.

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34

Beckwith-Cohen, Billie, Allison Hoffman, Gillian J. McLellan, and Richard R. Dubielzig. "Feline Neovascular Vitreoretinopathy and Anterior Segment Dysgenesis With Concurrent Glaucoma in Domestic Cats." Veterinary Pathology 56, no. 2 (September 16, 2018): 259–68. http://dx.doi.org/10.1177/0300985818798087.

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Feline neovascular vitreoretinopathy (FNV) is a newly recognized rare condition affecting kittens and young domestic cats. This study investigated the clinical and pathologic findings in 22 cats with FNV. In affected cats, ophthalmoscopy of the fundus (when visible) revealed avascular peripheral retinae and epiretinal vascular membranes. Frequent nonspecific clinical findings were buphthalmos ( n = 21), medically uncontrollable glaucoma ( n = 22), and lenticular abnormalities ( n = 13). Anterior segment dysgenesis (ASD) was detected clinically in affected cats ( n = 6). The fellow eye was affected in 11 of 18 cats to a variable degree or appeared clinically normal in 7 of 18 cats. The globes were examined histologically and using immunohistochemistry for vimentin, glial fibrillary acidic protein (GFAP), synaptophysin, neurofilament, laminin, factor VIII–related antigen (FVIII-RA), and smooth muscle actin (SMA). Histologically, diagnostic features included laminin-positive epiretinal vascular membranes affecting the central retina, with an avascular peripheral retina and gliosis. Enucleated globes exhibited multiple additional abnormalities, including corneal disease ( n = 15), anterior segment dysgenesis ( n = 21), lymphoplasmacytic anterior uveitis ( n = 19), peripheral anterior synechiae ( n = 20), retinal degeneration ( n = 22), and retinal detachment ( n = 19). Gliotic retinae labeled strongly for GFAP and vimentin with reduced expression of synaptophysin and neurofilament, consistent with degeneration or lack of differentiation. While an avascular peripheral retina and epiretinal fibrovascular membranes are also salient features of retinopathy of prematurity, there is no evidence to support hyperoxic damage in cats with FNV. The cause remains unknown.
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35

Shaw, Gillian C., May P. Y. Tse, and Andrew D. Miller. "Microphthalmia With Multiple Anterior Segment Defects in Portuguese Water Dogs." Veterinary Pathology 56, no. 2 (August 21, 2018): 269–73. http://dx.doi.org/10.1177/0300985818794248.

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Portuguese Water Dog breeders and veterinary ophthalmologists recognize microphthalmia with multiple congenital ocular anomalies. Fifteen Portuguese Water Dog puppies (<8 weeks of age; 8 females, 7 males) and 1 adult (5 years old; castrated male) with microphthalmia were examined. The 2 most common abnormalities were microphthalmia (31/32 eyes; 97%) and lens abnormality (congenital cataract or aphakia; 32/32 eyes; 100%). Other common histologic lesions included lack of both a ciliary cleft and trabecular meshwork (15/32 eyes; 47%) and abnormal relationship of anterior segment structures (15/32 eyes; 47%). Many of the observed lesions were similar to those described in various types of anterior segment dysgenesis in humans. Our findings define the histologic lesions in affected Portuguese Water Dogs and suggest a genetic defect that causes anterior segment malformation early in development.
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36

Thanikachalam, Saradadevi, Elizabeth Hodapp, Ta C. Chang, Dayna Morel Swols, Filiz B. Cengiz, Shengru Guo, Mohammad F. Zafeer, et al. "Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida." Genes 11, no. 4 (March 26, 2020): 350. http://dx.doi.org/10.3390/genes11040350.

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Anterior segment dysgenesis (ASD) comprises a wide spectrum of developmental conditions affecting the cornea, iris, and lens, which may be associated with abnormalities of other organs. To identify disease-causing variants, we performed exome sequencing in 24 South Florida families with ASD. We identified 12 likely causative variants in 10 families (42%), including single nucleotide or small insertion–deletion variants in B3GLCT, BMP4, CYP1B1, FOXC1, FOXE3, GJA1, PXDN, and TP63, and a large copy number variant involving PAX6. Four variants were novel. Each variant was detected only in one family. Likely causative variants were detected in 1 out of 7 black and 9 out of 17 white families. In conclusion, exome sequencing for ASD allows us to identify a wide spectrum of rare DNA variants in South Florida. Further studies will explore missing variants, especially in the black communities.
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37

Pilat, Anastasia V., Viral Sheth, Ravi Purohit, Frank A. Proudlock, Samira Anwar, and Irene Gottlob. "Hand-held optical coherence tomography imaging in children with anterior segment dysgenesis." Acta Ophthalmologica 95, no. 5 (April 30, 2016): 537–41. http://dx.doi.org/10.1111/aos.13053.

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38

Durrani-Kolarik, Shaheen, Kandamurugu Manickam, and Bernadette Chen. "COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis." Pediatric Neurology 66 (January 2017): 100–103. http://dx.doi.org/10.1016/j.pediatrneurol.2016.04.010.

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39

Zazo-Seco, Celia, Julie Plaisancié, Pierre Bitoun, Marta Corton, Ana Arteche, Carmen Ayuso, Adele Schneider, et al. "Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis." Journal of Human Genetics 65, no. 5 (February 3, 2020): 487–91. http://dx.doi.org/10.1038/s10038-020-0726-x.

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40

Gunderson, Charlise A., Robert Stone, Robert Peiffer, and Sharon Freedman. "Corneal Coloboma, Aphakia and Retinal Neovascularization with Anterior Segment Dysgenesis (Peters’ Anomaly)." Ophthalmologica 210, no. 6 (1996): 361–66. http://dx.doi.org/10.1159/000310747.

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41

Ahn, Tae Kwang, Young Hoon Park, and Duk Kee Hahn. "A Case of Secondary Glaucoma combined with Mesodermal Dysgenesis of Anterior Segment." Yeungnam University Journal of Medicine 7, no. 1 (1990): 187. http://dx.doi.org/10.12701/yujm.1990.7.1.187.

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42

Hamoudi, Hassan, Jens-Christian Rudnick, Jan U. Prause, Kerstin Tauscher, Angele Breithaupt, Jens P. Teifke, and Steffen Heegaard. "Anterior segment dysgenesis (Peters' anomaly) in two snow leopard (Panthera uncia) cubs." Veterinary Ophthalmology 16 (December 6, 2012): 130–34. http://dx.doi.org/10.1111/vop.12017.

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43

YAN, X., and J. GRAW. "A mutation in peroxidasin causes microphalmia and anterior segment dysgenesis in mice." Acta Ophthalmologica 90 (August 6, 2012): 0. http://dx.doi.org/10.1111/j.1755-3768.2012.2464.x.

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44

Atwal, Paldeep. "A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18." Journal of Pediatric Genetics 04, no. 04 (October 14, 2015): 207–8. http://dx.doi.org/10.1055/s-0035-1565266.

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45

PARK, Sangwan, Kiwoong KIM, Youngbeum KIM, and Kangmoon SEO. "Bilateral anterior segment dysgenesis with the presumed Peters’ anomaly in a cat." Journal of Veterinary Medical Science 80, no. 2 (2018): 297–301. http://dx.doi.org/10.1292/jvms.17-0532.

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46

Vanathi, M., Seema Sen, Anita Panda, Tanuj Dada, Geeta Behera, and Sudharshan Khokhar. "Unilateral Congenital Corneal Keloid With Anterior Segment Mesenchymal Dysgenesis and Subluxated Lens." Cornea 26, no. 1 (January 2007): 111–13. http://dx.doi.org/10.1097/01.ico.0000243952.84224.fe.

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47

Jones, M. L., A. P. Beck, and R. R. Dubielzig. "Bilateral Buphthalmia in a 4-Month-Old Texas Longhorn Steer." Veterinary Pathology 50, no. 1 (June 11, 2012): 212–14. http://dx.doi.org/10.1177/0300985812450724.

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Congenital ocular disease occurs uncommonly in cattle, with multiple abnormalities reported only sporadically in the literature. This report describes a case of anterior segment dysgenesis resulting in glaucoma in a 4-month-old Texas Longhorn steer. On clinical exam, bilateral buphthalmia was present and intraocular pressures exceeded 47 mm Hg in both eyes. On histopathologic examination, the iridocorneal angle and filtration apparatus were distorted due to collapse of the ciliary cleft and anterior displacement of the anterior portion of the ciliary body. No evidence of inflammation or other causes of glaucoma were recognized.
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48

McKeone, Richard, Helena Vieira, Kevin Gregory-Evans, Cheryl Y. Gregory-Evans, and Paul Denny. "Foxf2: A Novel Locus for Anterior Segment Dysgenesis Adjacent to the Foxc1 Gene." PLoS ONE 6, no. 10 (October 13, 2011): e25489. http://dx.doi.org/10.1371/journal.pone.0025489.

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49

Tian, Huiyu, Ellen Sanders, Albert Reynolds, Frans van Roy, and Jolanda van Hengel. "Ocular Anterior Segment Dysgenesis upon Ablation of p120 Catenin in Neural Crest Cells." Investigative Opthalmology & Visual Science 53, no. 9 (August 7, 2012): 5139. http://dx.doi.org/10.1167/iovs.12-9472.

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50

Berker, Nilufer, Yasemin Alanay, Ufuk Elgin, Bilge Volkan-Salanci, Tulay Simsek, Nurten Akarsu, and Mehmet Alikasifoglu. "A new autosomal dominant Peters’ anomaly phenotype expanding the anterior segment dysgenesis spectrum." Acta Ophthalmologica 87, no. 1 (February 2009): 52–57. http://dx.doi.org/10.1111/j.1600-0420.2007.01082.x.

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