A small deletion of 16q23.1→16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348−, P5432+)] in a boy with iris coloboma and minor anomalies [PDF]
, 1997 Walter Werner +4 more
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A Practical Guide to Genetic Eye Conditions for Paediatricians. [PDF]
J Paediatr Child HealthABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Lin R +5 more
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Systemic and Ophthalmologic Findings in Patients with Iris Coloboma
Türk Oftalmoloji Dergisi, 2013 Pur po se: Ocular coloboma is a rare malformation resulting from defective closure of the embryonic optic fissure. It can affect iris, retina, choroid, optic disc or ciliary body. This study reviews the clinical diagnosis and the accompanying ocular and
Sevda Ertekin +3 more
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A Chinese family with cat eye syndrome and abnormality of eye movement: First case report
Frontiers in Pediatrics, 2023 BackgroundCat eye syndrome (CES) is a rare disease with a wide spectrum of phenotypic variability that is observed in 1:150,000 newborns. CES is characterized clinically by the combination of iris coloboma, anal atresia, and preauricular tags and/or pits.
Yang Lu +8 more
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PAMJ Clinical Medicine, 2020 Coloboma is an eye abnormality that occurs during embryogenesis, it is a congenital defect typically presenting as a gap, hole or absent tissue in eye structures at a site consistent with aberrant closure of the optic fissure.
Karim Amhoud, Amina Berraho
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Bilateral lens coloboma in child with Marfan's syndrome treated with lens surgery
Kerala Journal of Ophthalmology, 2022 Lens coloboma can occur with ocular or systemic associations like Marfan's and Stickler's syndrome. Causes of poor vision include refractive error, anisometropia and amblyopia.
Sandra C Ganesh +3 more
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4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
Case Reports in Genetics, 2023 We encountered a case with congenital iris coloboma, omphalocele, and developmental delay with a 2.5 Mb deletion on chromosome 4q25 encompassing PITX2, leading to Axenfeld-Rieger syndrome (ARS), NEUROG2, and ANK2.
Yukino Kawanami +4 more
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Laser Iridotomy for Pupillary Block in Children with Endogenous Uveitis
Oftalʹmologiâ, 2023 Objective. Development of a differential approach to laser iridotomy in children with endogenous uveitis considering iris characteristics and the reaction of children’s eyes to different laser types.Patients and methods. Thirty-six laser iridotomies were
N. N. Arestova +4 more
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Surgical management of bilateral congenital coloboma of the iris and congenital cataract
Journal of Ophthalmology, 2018 Background. A combined character of a defect, which is congenital coloboma in the presence of congenital cataract, brings up an issue of choosing optimal management to achieve the maximum possible optical functions, provided that the risk of development ...
N.F. Bobrova, D.V. Smaglii
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Congenital bilateral coloboma of iris and choroid accompanied by unilateral multiple primary pigmented iris cysts: A case report. [PDF]
Int J Surg Case RepSong XZ, Li L, Wang XL.
europepmc +2 more sources