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Journal articles on the topic 'Iris Hypoplasia'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

Crispin, Sheila M. "Developmental anomalies and abnormalities of the equine iris." Veterinary Ophthalmology 3, no. 2-3 (2000): 93–98. http://dx.doi.org/10.1046/j.1463-5224.2000.3230093.x.

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AbstractThe iris is derived from interaction between neural crest tissue and the adjacent neuroectoderm of the optic cup. Developmental anomalies of the equine iris are common, and include congenital miosis, iris cysts, various manifestations of iris hypoplasia, heterochromia, and persistent pupillary membrane remnants. They may be found alone or in combination with other ocular defects.

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2

Stendel, Claudia, Matias Wagner, Guenther Rudolph, and Thomas Klopstock. "Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review." Neuropediatrics 50, no. 06 (2019): 382–86. http://dx.doi.org/10.1055/s-0039-1693150.

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AbstractVariants in the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) gene have been recently identified as a cause of Gillespie's syndrome, a rare inherited condition characterized by bilateral iris hypoplasia, congenital muscle hypotonia, nonprogressive cerebellar ataxia, and intellectual disability. Here, we describe the clinical and genetic findings in a patient who presented with iris hypoplasia, mild gait ataxia, atrophy of the anterior cerebellar vermis but no cognitive deficits. Whole-exome sequencing (WES) uncovered a heterozygous ITPR1 p.Glu2094Lys missense variant, affecting

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3

Buyukmihci, Nedim C., Alan MacMillan, and Randall H. Scagliotti. "Evaluation of zones of iris hypoplasia in horses and ponies." Journal of the American Veterinary Medical Association 200, no. 7 (1992): 940–42. http://dx.doi.org/10.2460/javma.1992.200.07.940.

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Summary Mass-like lesions of the iris were evaluated in 15 horses or ponies of various ages and breeds. Breed or gender predilection was not found. These lesions were most often found in blue irides at the 12 o'clock region. Because the lesions transilluminated and changed shape rapidly with changes in pupillary size, they were hypothesized to be zones of iris hypoplasia. Histologic evaluation of one specimen supported this interpretation. The lesions were not associated with any other ocular or systemic abnormality.

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4

Bergstrom, Chris S., Richard A. Saunders, Amy K. Hutchinson, and Scott R. Lambert. "Iris Hypoplasia and Aorticopulmonary Septal Defect: A Neurocristopathy." Journal of American Association for Pediatric Ophthalmology and Strabismus 9, no. 3 (2005): 264–67. http://dx.doi.org/10.1016/j.jaapos.2004.12.012.

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5

Ahmed, Mariya R., Saumil Sethna, Laura A. Krueger, Michael B. Yang, and Robert B. Hufnagel. "Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1." Genes 13, no. 3 (2022): 411. http://dx.doi.org/10.3390/genes13030411.

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Anterior segment dysgenesis (ASD) encompasses a wide spectrum of developmental abnormalities of the anterior ocular segment, including congenital cataract, iris hypoplasia, aniridia, iridocorneal synechiae, as well as Peters, Axenfeld, and Rieger anomalies. Here, we report a large five-generation Caucasian family exhibiting atypical syndromic ASD segregating with a novel truncating variant of FOXC1. The family history is consistent with highly variable autosomal dominant symptoms including isolated glaucoma, iris hypoplasia, aniridia, cataract, hypothyroidism, and congenital heart anomalies. W

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6

Ananthan, Ajay Venkat, Dona Mathew, and Premanand Chandran. "Bilateral congenital ectropion uveae without glaucoma: A case report and review of literature." Indian Journal of Ophthalmology - Case Reports 5, no. 2 (2025): 284–85. https://doi.org/10.4103/ijo.ijo_2871_24.

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A 12-year-old boy presented with high intraocular pressure (IOP) in both eyes (BE). An anterior segment examination revealed ectropion uveae with iris stromal hypoplasia in BE. Gonioscopy showed anterior insertion of the iris, and a posterior segment examination showed a healthy optic nerve head with an attached retina in BE. A physical examination did not reveal any systemic association. He was diagnosed with congenital ectropion uveae with secondary ocular hypertension. IOP was controlled with antiglaucoma medication, and he was advised to undergo regular lifelong follow-up.

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7

Sen, Saswati, Snehalata Dash, Akash Sidana, and Anjali Goel. "Partially Empty Sella with Optic Disc Coloboma - Unique Association." Journal of Medical Sciences and Health 10, no. 1 (2024): 118–20. http://dx.doi.org/10.46347/jmsh.v10.i1.23.394.

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Congenital anomalies in individuals, more often than not involve multiple organs. We present the case of a 26-year-old female who presented with headache and sleep disturbances as primary complaints. She was found to have a partially empty sella in association with iris and optic disc coloboma. Septo-optic dysplasia is commonly seen in patients with complete or partially empty sella where hypoplasia of optic nerve is seen. Association of iris coloboma and optic disc coloboma with partially empty sella has been reported rarely and was discovered in this patient. Keywords: Insomnia, Coloboma, Co

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8

Courdier, Cécile, Anna Gemahling, Damien Guindolet, et al. "EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia." European Journal of Medical Genetics 65, no. 10 (2022): 104574. http://dx.doi.org/10.1016/j.ejmg.2022.104574.

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9

Kinjal, Mehta, Rupala Nikhil, and Shah Kavita. "A Case of Autosomal Dominant Bilateral Familial Aniridia." GAIMS Journal of Medical Sciences 1, no. 1 (2021): 49–51. https://doi.org/10.5281/zenodo.5766141.

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<strong>ABSTRACT</strong> Aniridia is a familial or sporadic disorder affecting not only the iris but also the cornea, angle structures, lens, optic nerve, and fovea. This disorder may be associated with many other systemic abnormalities such as urogenital malignancies. We report a family of aniridia with different clinical spectrum of features.

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10

Wang, Grace M., Lev Prasov, Hayder Al-Hasani, et al. "Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation." Journal of Ophthalmology 2018 (2018): 1–10. http://dx.doi.org/10.1155/2018/5978293.

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Aniridia is a congenital disease that affects almost all eye structures and is primarily caused by loss-of-function mutations in the PAX6 gene. The degree of vision loss in aniridia varies and is dependent on the extent of foveal, iris, and optic nerve hypoplasia and the presence of glaucoma, cataracts, and corneal opacification. Here, we describe a 4-generation family in which 7 individuals across 2 generations carry a novel disease-causing frameshift mutation (NM_000280.4(PAX6):c.565TC>T) in PAX6. This mutation results in an early stop codon in exon 8, which is predicted to cause nonsense

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11

Moravikova, J., Z. Kozmik, L. Hlavata, et al. "Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants." Folia Biologica 66, no. 4 (2020): 123–32. http://dx.doi.org/10.14712/fb2020066040123.

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The aim of this study was to report PAX6 disease-causing variants in six Czech families, to describe the associated phenotypes, and to perform functional assessment of the splice site variants. Detailed ophthalmic examination was performed. The PAX6 coding region was directly sequenced in three probands. Two probands were analysed by exome sequencing and one by genome sequencing. The effect of two variants on pre-mRNA splicing was evaluated using an exon trapping assay. Six different heterozygous PAX6 variants were identified, with c.111_120del and c.1183+1G>T being novel. Both c.1183+1G&gt

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12

Perwitasari, Birgitta Henny, and Dicky Hermawan. "Familial Congenital Aniridia with Subluxated Lens and Glaucoma." Vision Science and Eye Health Journal 3, no. 1 (2023): 17–22. http://dx.doi.org/10.20473/vsehj.v3i1.2023.17-22.

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Introduction: Congenital aniridia is a bilateral iris aplasia or hypoplasia associated with other ocular disorders. The purpose of this case report is to describe the clinical manifestation of congenital aniridia in two members of one family. Case Presentation: The first patient (mother) is a 43-year-old and the second patient (daughter) is a 12-year-old. Both patients complained of blurred vision since childhood. The visual acuity of the first patient was a positive light perception on the right eye (RE) and no light perception on the left eye (LE); the visual acuity of the second patient was

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13

Gedik, Can, and Leyla Niyaz. "Oct findings in a case with iris coloboma and foveal hypoplasia." Journal of Retina-Vitreous 30, no. 3 (2021): 291. http://dx.doi.org/10.37845/ret.vit.2021.30.50.

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14

Gorbacheva, N. V., S. I. Makogon, D. I. Ivanova, and J. S. Hlopkova. "A clinical case of mesenchymal iris dysplasia for the first time in a family." POINT OF VIEW. EAST – WEST, no. 4 (November 2, 2021): 77–79. http://dx.doi.org/10.25276/2410-1257-2021-4-77-79.

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Frank-Kamenetsky syndrome is a rather rare ocular anomaly, which is characterized by hypoplasia of the iris stroma with exposure of its pigment layer and the development of secondary glaucoma, more often in the 2-3rd decade of life. Gonioscopy reveals goniodysgenesis in the form of "dentate" and anterior attachment of the root of the iris of a dirty gray color, as well as the inclusion of mesodermal tissue in the trabecular zone. The severity of the course of glaucoma is determined by the age of onset and is often malignant, gradually leading to blindness. Frank-Kamenetsky syndrome is observed

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15

Doroodgar, Farideh, Mahmoud Jabbarvand, Feazollah Niazi, Sana Niazi, and Azad Sanginabadi. "Implantation of ArtificialIris, a CustomFlex® iris prosthesis, in a trauma patient with an Artisan lens." Asian Journal of Ophthalmology 16, no. 4 (2019): 307–18. http://dx.doi.org/10.35119/asjoo.v16i4.411.

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Purpose: To evaluate probable complications of ArtificialIris implantation with iris-fixated intraocular lens. Method: Development of photophobia, glare, and psychological strain during face-to-face communication in a 23-year-old man with a widespread traumatic iris defect terminate to make a decision for performing implantation an ArtificialIris (HumanOptics, Erlangen, Germany) under the remnant iris without removing the patient’s existing Artisan lens. Results: Without any intraoperative or postoperative complications, the patient’s visual acuity increased by one line, the endoth

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16

Rocca, Camilla, Lucia Tiberi, Sara Bargiacchi, et al. "Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?" International Journal of Molecular Sciences 23, no. 14 (2022): 7825. http://dx.doi.org/10.3390/ijms23147825.

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Oculocutaneous albinism is an autosomal recessive disorder characterized by the presence of typical ocular features, such as foveal hypoplasia, iris translucency, hypopigmented fundus oculi and reduced pigmentation of skin and hair. Albino patients can show significant clinical variability; some individuals can present with only mild depigmentation and subtle ocular changes. Here, we provide a retrospective review of the standardized clinical charts of patients firstly addressed for evaluation of foveal hypoplasia and slightly subnormal visual acuity, whose diagnosis of albinism was achieved o

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17

Gour, Abha, Shailaja Tibrewal, Aastha Garg, Mehak Vohra, Ria Ratna, and Virender Singh Sangwan. "New horizons in aniridia management: Clinical insights and therapeutic advances." Taiwan Journal of Ophthalmology 13, no. 4 (2023): 467–78. http://dx.doi.org/10.4103/tjo.tjo-d-23-00140.

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Congenital aniridia is a rare genetic eye disorder characterized by the complete or partial absence of the iris from birth. Various theories and animal models have been proposed to understand and explain the pathogenesis of aniridia. In the majority of cases, aniridia is caused by a mutation in the PAX6 gene, which affects multiple structures within the eye. Treating these ocular complications is challenging and carries a high risk of side effects. However, emerging approaches for the treatment of aniridia-associated keratopathy, iris abnormalities, cataract abnormalities, and foveal hypoplasi

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18

Iureva, Tatiana, Andrey Shchuko, and Yulia Pyatova. "Diagnostics and Prediction of Glaucoma in Patients with Familial Congenital Iris Hypoplasia." Open Journal of Ophthalmology 05, no. 03 (2015): 115–23. http://dx.doi.org/10.4236/ojoph.2015.53018.

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19

Singh, S., R. Mishra, N. A. Arango, J. M. Deng, R. R. Behringer, and G. F. Saunders. "Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform." Proceedings of the National Academy of Sciences 99, no. 10 (2002): 6812–15. http://dx.doi.org/10.1073/pnas.102691299.

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20

Lehmann, Ordan J., Neil D. Ebenezer, Tim Jordan, et al. "Chromosomal Duplication Involving the Forkhead Transcription Factor GeneFOXC1Causes Iris Hypoplasia and Glaucoma." American Journal of Human Genetics 67, no. 5 (2000): 1129–35. http://dx.doi.org/10.1086/321194.

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21

Davitt, Bradley V., and C. Gail Summers. "Congenital iris ectropion associated with ocular albinism, foveal hypoplasia, and keratoconjunctivitis sicca." Journal of American Association for Pediatric Ophthalmology and Strabismus 1, no. 3 (1997): 180–82. http://dx.doi.org/10.1016/s1091-8531(97)90063-x.

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22

Sheth, B. "Linkage of Autosomal Dominant Iris Hypoplasia to the Rieger Syndrome Locus (4q25)." Vision Research 35, no. 1 (1995): S122. http://dx.doi.org/10.1016/0042-6989(95)98466-m.

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23

Calvão-Pires, Pedro, R. Santos-Silva, F. Falcão-Reis, and A. Rocha-Sousa. "Congenital Aniridia: Clinic, Genetics, Therapeutics, and Prognosis." International Scholarly Research Notices 2014 (October 30, 2014): 1–10. http://dx.doi.org/10.1155/2014/305350.

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Congenital aniridia is a rare condition related to a deficiency in the PAX6 gene expression, which may occur as a result of a family inheritance or a sporadic occurrence. Additionally, this condition may occur as an isolated ocular phenotype or in association with a systemic syndrome. The most common abnormality is iris hypoplasia; however, a panocular disease which also affects the cornea, anterior chamber of the eye, lens, and the posterior segment with presence of optic nerve and foveal hypoplasia is also evident. The development of keratopathy, glaucoma, and cataract is frequent and its pr

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24

Ad??s, Lesley C., Roger Davies, Eric A. Haan, et al. "Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent." Clinical Dysmorphology 8, no. 4 (1999): 269???276. http://dx.doi.org/10.1097/00019605-199910000-00007.

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25

Héon, E., B. P. Sheth, J. W. Kalenak, et al. "3127 Linkage of autosomal dominant iris hypoplasia to the rieger syndrome locus (4q25)." Vision Research 35 (October 1995): S122. http://dx.doi.org/10.1016/0042-6989(95)90258-9.

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26

McCormick, Karen A., Daniel Ward, and Kimberly M. Newkirk. "Aniridia in Two Related Tennessee Walking Horses." Case Reports in Veterinary Medicine 2013 (2013): 1–4. http://dx.doi.org/10.1155/2013/703732.

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Aniridia in horses is rare and has previously been reported to be genetically transmitted in Belgian horses and Quarter horses. This paper describes the defect in 2 related Tennessee Walking horses, with special reference to new findings regarding the molecular genetics of ocular development and how they might relate to equine aniridia. In addition to aniridia, these 2 horses possessed additional ocular abnormalities including cataracts and dermoid lesions. Euthanasia was elected, and the eyes were examined histologically. Iris hypoplasia, atypical dermoids, and cataracts were confirmed in bot

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27

Shawky, Rabah M., Radwa Gamal, and Shaimaa Abdelsattar Mohammad. "Baraitser–Winter syndrome: An additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum." Egyptian Journal of Medical Human Genetics 17, no. 1 (2016): 119–23. http://dx.doi.org/10.1016/j.ejmhg.2015.04.004.

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28

Torres, Mariana M., Felipe A. C. S. Cruz, Érica P. Silva, et al. "Relation between anaemia and bone marrow features and serum erythropoietin in dogs with chronic kidney disease." Pesquisa Veterinária Brasileira 37, no. 6 (2017): 598–602. http://dx.doi.org/10.1590/s0100-736x2017000600011.

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ABSTRACT: Chronic anaemia is one of the most severe complications of chronic kidney disease, contributing to morbidity and mortality caused by the disease; therefore, bone marrow cytological evaluation is needed to monitor the progression of anaemia. This study aimed to correlate the anaemia in dogs at different stages of chronic kidney disease with their serum biochemistry, myelogram results and serum erythropoietin findings. Sixty-three dogs were grouped according to International Renal Interest Society (IRIS) classification in stages 1, 2, 3 and 4. Haematologic, serum and urinary biochemist

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29

Sivalingam, Meera D., Lauren A. Dalvin, Carol L. Shields, Arman Mashayekhi, and Jerry A. Shields. "Amelanotic Ciliochoroidal Melanoma in a Patient with Oculocutaneous Albinism." Ocular Oncology and Pathology 5, no. 3 (2018): 182–85. http://dx.doi.org/10.1159/000490913.

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To report a case of amelanotic ciliochoroidal melanoma in a patient with oculocutaneous albinism. A 76-year-old Caucasian male with a past medical history of oculocutaneous albinism and recurrent urothelial carcinoma was found to have a mass in the left eye, suspicious for ciliochoroidal melanoma. On examination, visual acuity was 20/400 in both eyes (OU). External examination showed iris transillumination defects. Funduscopic examination OU revealed blonde fundus, optic nerve hypoplasia, and foveal hypoplasia, confirmed on optical coherence tomography. Funduscopic examination of the left eye

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30

Lehmann, Ordan J., Neil D. Ebenezer, Tim Jordan, et al. "Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma." American Journal of Human Genetics 67, no. 5 (2000): 1129–35. http://dx.doi.org/10.1016/s0002-9297(07)62943-7.

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31

Ardila, Carlos-Martín, and Efraín Álvarez-Martínez. "Dental and Maxillofacial Manifestations of Axenfeld–Rieger Syndrome: Presentation of a Case in a 5-Year-Old Girl." Case Reports in Dentistry 2022 (August 2, 2022): 1–5. http://dx.doi.org/10.1155/2022/4348264.

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In this case study, the dental and maxillofacial manifestations of a 5-year-old girl with Axenfeld–Rieger syndrome (ARS) are described. This syndrome is characterized by craniomaxillofacial, ocular, dental, and umbilical disorders. The patient presented ocular dyscoria and corectopia, iris abnormalities, midface hypoplasia with a thin upper lip, and a protruded lower lip. Hyperplastic maxillary labial frenulum, oligodontia, ghost teeth, bilateral Class III molar and canine relationship, and right posterior crossbite were also found. An everted umbilicus with redundant periumbilical skin was ev

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32

Wowra, Bogumił Henryk, Olga Łach-Wojnarowicz, Marzena Wysocka-Kosmulska, Dariusz Dobrowolski, and Edward Wylęgała. "The Triple Procedure in Patients with Congenital Aniridia." Journal of Clinical Medicine 13, no. 21 (2024): 6619. http://dx.doi.org/10.3390/jcm13216619.

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Background: Aniridia is a rare panocular, bilateral, and congenital disease characterized by complete or partial iris hypoplasia and foveal hypoplasia, leading to decreased visual acuity and nystagmus. AAK, also referred to as aniridic keratopathy, manifests as corneal surface damage, epithelial thinning or loss, inflammation with immune cell infiltration, vascularization, and chronic progressive opacification. Methods: Twenty-one eyes in eighteen patients with aniridia underwent the triple procedure for visual rehabilitation. Subjects with stromal scarring with mild limbal deficiency were qua

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33

Mohan, Amit, Pradhnya Sen, Chintan Shah, Elesh Jain, and Alok Sen. "Spontaneous multiple iris sphincter tears during cataract surgery in high myopic children with midfacial hypoplasia." Indian Journal of Ophthalmology 68, no. 10 (2020): 2223. http://dx.doi.org/10.4103/ijo.ijo_1901_19.

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34

Héon, Elise, Bhavna P. Sheth, Jeffrey W. Kalenak, et al. "Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)." Human Molecular Genetics 4, no. 8 (1995): 1435–39. http://dx.doi.org/10.1093/hmg/4.8.1435.

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35

Chen, Dou-Dou, Tao Yang, and Si-Quan Zhu. "Recurrent PAX 6 mutation in a Chinese family with congenital aniridia, progressive cataracts and mental retardation." European Journal of Ophthalmology 30, no. 1 (2018): 181–88. http://dx.doi.org/10.1177/1120672118810998.

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Background: One prominent pathological feature of congenital aniridia is hypoplasia of the iris, often accompanied by other eye abnormalities. The objective of this study is to identify gene mutations responsible for autosomal dominance in a Chinese family with congenital aniridia, progressive cataracts and mental retardation. Methods: A total of 11 family members, including 6 affected and 5 unaffected individuals were recruited. Whole exome sequencing was performed on the proband and Sanger sequencing was applied to identify the causal mutation in the other family members and control samples.

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36

Strano, Serena, Agata Polizzi, Maria Garozzo, et al. "Phacomatosis Pigmentovascularis." Journal of Pediatric Neurology 16, no. 05 (2018): 305–12. http://dx.doi.org/10.1055/s-0038-1667153.

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AbstractThe coexistence of a widespread vascular nevus and an extensive pigmentary nevus is defined as “phacomatosis pigmentovascularis” (PPV). More than 250 (sporadic) cases of PPV have been so far reported, mainly in Asian or Asian-related populations: mutations in genes related to angiogenic pathways (RAS, MAPK, mTOR, PI3K/AKT, and GNAQ) have been recently identified as the causes of this complex phenotype. In many cases, mutations in two different genes may coexist, representing the classical example of “twin spotting” phenomenon. PPV is usually associated with several extracutaneous anoma

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37

Siepker, Christopher L., Jennifer L. Zimmer, Kathleen M. Bedard, Kelsey A. Hart, Sarah L. Czerwinski, and K. Paige Carmichael. "Congenital Cataracts and Microphakia with Retinal Dysplasia and Optic Nerve Hypoplasia in a Calf." Case Reports in Veterinary Medicine 2021 (September 6, 2021): 1–5. http://dx.doi.org/10.1155/2021/2064103.

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Case Description. A two-month-old, female, Aberdeen-Angus calf was presented for congenital cataracts and blindness in both eyes (OU). The dam had a reported history of visual defects (not specified) and had produced other affected calves (per owner history). Ophthalmic examination revealed mature bilateral cataracts, attenuation of the iridic granules, persistent pupillary membranes, and dyscoric pupils. Additionally, the calf had a poor body condition, prognathism, dome-shaped head, excessive nasal drainage, limb contracture, and fever. Histopathology of both eyes revealed lenticular degener

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38

Cho, NamChun, WooJin Kim, and JongHa Kim. "Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia." Indian Journal of Ophthalmology 65, no. 1 (2017): 55. http://dx.doi.org/10.4103/0301-4738.202305.

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39

Jun, Albert S., Karl W. Broman, Diana V. Do, Esen K. Akpek, Walter J. Stark, and John D. Gottsch. "Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1–q25.3." American Journal of Ophthalmology 134, no. 2 (2002): 172–76. http://dx.doi.org/10.1016/s0002-9394(02)01401-0.

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40

Alward, Wallace L. M., Elena V. Semina, Jeffrey W. Kalenak, et al. "Autosomal dominant iris hypoplasia is caused by a mutation in the rieger syndrome (rieg/pitx2) gene." American Journal of Ophthalmology 125, no. 1 (1998): 98–100. http://dx.doi.org/10.1016/s0002-9394(99)80242-6.

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41

Lima Cunha, Dulce, Gavin Arno, Marta Corton, and Mariya Moosajee. "The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye." Genes 10, no. 12 (2019): 1050. http://dx.doi.org/10.3390/genes10121050.

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The transcription factor PAX6 is essential in ocular development in vertebrates, being considered the master regulator of the eye. During eye development, it is essential for the correct patterning and formation of the multi-layered optic cup and it is involved in the developing lens and corneal epithelium. In adulthood, it is mostly expressed in cornea, iris, and lens. PAX6 is a dosage-sensitive gene and it is highly regulated by several elements located upstream, downstream, and within the gene. There are more than 500 different mutations described to affect PAX6 and its regulatory regions,

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42

Kadyshev, V. V., S. A. Ryazhskaya, O. V. Khalanskaya, N. V. Zhurkova, and R. A. Zinchenko. "Clinical and genetic aspects of albinism." Russian Journal of Clinical Ophthalmology 21, no. 3 (2021): 175–80. http://dx.doi.org/10.32364/2311-7729-2021-21-3-175-180.

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Albinism is a clinically and genetically heterogeneous group of hereditary diseases whose pathogenesis is mediated by impaired synthesis of melanin which results in its partial or total loss. Reduced melatonin level clinically manifests as skin, hair, and ocular hypopigmentation. Ocular presentations include hypopigmentation/lack of pigmentation of eye fundus and iris, foveal hypoplasia, low vision, nystagmus and strabismus, photophobia, iris transillumination, and asymmetrical decussation of nerve fibers at the optic chiasm. However, albinism can be a part of more complex genetic syndromes, e

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Kaka H.Y, Abba, Salissou L., Amza A., and Daou M. "Syndrome D’aniridie Associé À La Dermatite Atopique: À Propos D’un Cas." European Scientific Journal, ESJ 12, no. 6 (2016): 97. http://dx.doi.org/10.19044/esj.2016.v12n6p97.

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Aniridia syndrome is a genetic anomaly affecting all ocular structures; it is transmitted by an autosomal dominant mode. In its isolated form aniridia is characterized by a hypoplasia of the iris frequently associated with other ocular anomalies. It the syndromic form it is associated to other systemic abnormalities. Authors are here reporting a case of aniridia associating: a corneal pannus, total aniridia, lens ectopia, and cataract found in a 14 years old girl. She also presented an atopic background with a positive family history of atopia. She is issued from a first degree consanguineous

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Sedova, T. G., M. Yu Kobernik, V. D. Elkin, V. V. Kiryushova, and A. A. Zhukova. "Clinical case of complete oculocerebrocutaneous syndrome (Delleman syndrome) in newborn child." Russian Journal of Clinical Dermatology and Venereology 24, no. 1 (2025): 38. https://doi.org/10.17116/klinderma20252401138.

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Clinical observation of complete oculocerebrocutaneous syndrome in newborn boy is presented. Clinical symptoms of the disease were characterized by right-sided ophthalmological (lipodermoid of conjunctive and upper eyelid, congenital coloboma of iris and optic nerve head, cataract), cerebral (schizencephaly, lissencephaly, pachygyria, arachnoid cyst of posterior cranial fossa, seizures) and cutaneous (congenital alopecia areata, aplasia cutis, atrophic scars, skin atrophy foci) manifestations. Oculocerebrocutaneous syndrome (Delleman syndrome) is a rare genetic pathology, sporadically occurrin

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Manjatika, Arthur T., Joshua G. Davimes, Erin F. Hutchinson, and Amadi O. Ihunwo. "Unilateral optic nerve aplasia associated with microphthalmia: a rare cadaveric report." European Journal of Anatomy 28, no. 4 (2024): 505–9. http://dx.doi.org/10.52083/trru3034.

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This case report describes the anatomical presentation of the anomalous optic nerve (cranial nerve II). Cranial nerve II developmental anomalies encompass both optic nerve hypoplasia and aplasia. While most studies on optic nerve anomalies rely on radiological imaging, anatomical presentation and nerve course are rarely described. The current case reveals a complete absence of the right optic nerve and its connection to the optic chiasma, resembling radiological presentation of optic nerve aplasia. In addition, the right-sided bony orbit and eyeball were smaller than the left, accompanied by a

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Peter, Neena M., Martin Leyland, Hardeep S. Mudhar, Jo Lowndes, Katharine R. Owen, and Helen Stewart. "PAX6mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?" Clinical & Experimental Ophthalmology 41, no. 9 (2013): 835–41. http://dx.doi.org/10.1111/ceo.12109.

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Erkiliç, K., A. Özkiriş, C. Evereklioglu, and H. Dogan. "Rieger Anomaly with Bilateral Choroidal Osteoma: Coincidence or Association?" European Journal of Ophthalmology 13, no. 5 (2003): 496–99. http://dx.doi.org/10.1177/112067210301300513.

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Purpose To report a case of Rieger anomaly associated with bilateral choroidal osteoma. CASE. An 18-year-old woman presented with corectopia, iridocorneal adhesions, and stromal hypoplasia of the iris, and was diagnosed with Rieger anomaly. Results Fundus examination revealed bilateral yellowish-orange, placoid degenerative fundus lesions with pseudopod-like edges associated with the areas of retinal pigment epithelium atrophy, indicating choroidal osteoma. Fundus fluorescein angiography showed bilateral early patchy and late diffuse hyperfluorescence. B-scan echography revealed placoid lesion

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Jiang, Yi, Shiqiang Li, Xueshan Xiao, Wenmin Sun, and Qingjiong Zhang. "Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement." Investigative Opthalmology & Visual Science 62, no. 10 (2021): 23. http://dx.doi.org/10.1167/iovs.62.10.23.

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Ekong, Rosemary, Steve Jeremiah, David Judah, et al. "Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray." Human Mutation 24, no. 1 (2004): 76–85. http://dx.doi.org/10.1002/humu.20059.

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Koc, Mustafa, Pinar Kosekahya, Merve Inanc, and Kemal Tekin. "Corneal crosslinking in a case with Axenfeld–Rieger syndrome and unilateral pellucid marginal degeneration." Therapeutic Advances in Ophthalmology 11 (January 2019): 251584141882228. http://dx.doi.org/10.1177/2515841418822288.

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A 31-year-old male patient presented with the complaint of progressive vision loss in his left eye. Slit-lamp examination showed posterior embryotoxon, iris hypoplasia, and iridocorneal adhesion in both eyes, corectopia in the right, and peripheral inferior thinning and ectasia in the left eye. Corneal topography showed slightly asymmetric bowtie pattern in the right eye and crab-claw pattern in the left eye. Topographic examination was compared with his previous topography. The comparison showed 1.6-D steepening of maximum keratometry ( Kmax) and 22-µm decrease of thinnest corneal pachymetry.

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