Relevant bibliographies by topics / Iris Hypoplasia

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Academic literature on the topic 'Iris Hypoplasia'

Author: Grafiati
Published: 3 June 2025
Last updated: 31 July 2025

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Journal articles on the topic "Iris Hypoplasia"

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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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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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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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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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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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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&gt;T) in PAX6. This mutation results in an early stop codon in exon 8, which is predicted to cause nonsense
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Book chapters on the topic "Iris Hypoplasia"

1

Hufnagel, Robert B., Reecha S. Bahl, and Elias I. Traboulsi. "Aniridia and PAX6." In Genetic Diseases of the Eye, 3rd ed. Oxford University PressNew York, 2025. https://doi.org/10.1093/med/9780197659403.003.0011.

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Abstract Aniridia, which means total absence of the iris, is used clinically to refer to a spectrum of panocular malformations, the most prominent of which is partial to near-total absence of the iris. This chapter examines the morphology, histopathology, epidemiology, clinical findings, and genetics of the condition. Sequence variations in PAX6 can also result in several other ocular abnormalities with or without iris defects, including limbal stem cell deficiency, keratopathy, foveal hypoplasia, and cataracts. The chapter also covers the malformation syndromes with aniridia, the molecular ge
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2

Traboulsi, Elias I. "W." In A Compendium of Inherited Disorders and the Eye. Oxford University PressNew York, NY, 2005. http://dx.doi.org/10.1093/oso/9780195170962.003.0021.

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Abstract The three features most commonly associated with type I are lateral displacement of the medial canthi, white forelock, and sensorineural deafness. Freckles on the face and premature graying of the hair are frequent. is found in 20% of affected individuals. The characteristic pigmentary abnormalities are a white forelock, with or without hypoplastic pale-blue irides. Unilateral or sector heterochromia of the iris may be present. Other expressions of the pigmentary abnormalities include vitiligo. Congenital deafness is the most serious feature of the disease and, when present, is usuall
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3

Mandal, Anil K., and Harsha B. L. Rao. "Aniridia—Epidemiology and Genetics." In Aniridia and WAGR Syndrome. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195389302.003.0007.

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Aniridia literally means “without iris.” The iris is the part of the eye that gives color to the eye. But the term aniridia encompasses more than its literal meaning and includes abnormalities of almost all the structures of the eye, from the cornea up to the optic nerve and including the angle of the anterior chamber, the lens, and the fovea. This is why aniridia is often called a “panocular disease.” The cornea is normally an avascular (lacking blood vessels), transparent tissue on the front part of the eye. In individuals with aniridia, it becomes vascularised. A bunch of blood vessels grow
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Dumitrescu, Alina V. "Albinism." In Genetic Diseases of the Eye, 3rd ed. Oxford University PressNew York, 2025. https://doi.org/10.1093/med/9780197659403.003.0049.

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Abstract Albinism covers a spectrum of inherited hypopigmentation disorders characterized by the reduction or total absence of pigment from the eye, hair, and skin. Most cases of albinism are inherited in an autosomal recessive fashion, but some are inherited in an X-linked or autosomal dominant manner. Even as the molecular genetic understanding of pigmentation disorders has improved, no relevant genotype-phenotype correlation has been found. Albinism results from the defective production of melanin from tyrosine through a complex pathway of metabolic reactions involving enzymes and proteins
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5

Netland, Peter A. "Glaucoma Problems Associated with Aniridia." In Aniridia and WAGR Syndrome. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195389302.003.0009.

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Glaucoma is a potentially vision-threatening problem that is commonly encountered in aniridia patients. This condition may develop at birth, or shortly thereafter. More commonly, however, glaucoma is acquired later in childhood or even young adulthood. If unrecognized and untreated, glaucoma can result in blindness. For this reason, it is important to be vigilant in watching for this condition in children affected with aniridia. Vision lost due to glaucomatous damage cannot be regained at a later time. In addition to glaucoma, children with aniridia may demonstrate other problems with their vi
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Otis, Jessica J., and Jill Ann Nerby. "Teachers’ and School Administrators’ Guide." In Aniridia and WAGR Syndrome. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195389302.003.0015.

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A child with aniridia is being placed in your classroom, and you may be wondering whether their needs are different from those of your other students. This information has been written to answer any questions or concerns about this new teaching experience. When a child with a visual disability is enrolled in a regular class, careful consideration is given to assess whether he or she can compete both academically and socially. Although he or she may need to cope with visual and emotional stresses usually not encountered by non-disabled children, he or she will soon become a fully participating
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7

Small, Kent, Amber Diaz, and Fadi Shaya. "North Carolina Macular Dystrophy (NCMD/MCDR1/MCDR3/PRDM13/IRX1), Progressive Bifocal Chorioretinal Atrophy (PBCRA), and Congenital Posterior Polar Chorioretinal Hypoplasia (CPPCRH)." In Genetic Diseases of the Eye, 3rd ed. Oxford University PressNew York, 2025. https://doi.org/10.1093/med/9780197659403.003.0033.

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Abstract North Carolina macular dystrophy (NCMD/MCDR1/MCDR3) is an autosomal dominant congenital condition with minimal progression and a relatively good prognosis. The name is misleading, as there are more than seventy families reported throughout the world; more than fifty have been reported by Small et al. The highly variable expressivity and perpetuation of errors in the literature result in NCMD being underdiagnosed. Phenocopies include age-related macular degeneration, Best vitelliform macular dystrophy, Stargardt disease, toxoplasmosis, torpedo maculopathy, and fovea plana. NCMD was map
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