Results 41 to 50 of about 3,887 (162)
Lensectomía refractiva en coloboma de iris
Revista Cubana de Oftalmología, 2020 RESUMEN El coloboma de iris es un defecto congénito, que se describe como un orificio, fisura o hendidura en dicha estructura. Esta condición tiene la posibilidad de ser hereditaria o aparecer sin historia familiar previa.
Gisselle Rivera Jiménez +5 more
doaj
Ophthalmic manifestations of proboscis lateralis
BMJ Open Ophthalmology, 2021 Proboscis lateralis (PL) is a rare congenital malformation of the craniofacial structure with varied clinical associations. None of the studies documented a discrete review of ophthalmic presentations in PL.
Ekta Singh Sahu +4 more
doaj +1 more source
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim +2 more
wiley +1 more source
Implantation epithelial iris cyst following the perforating corneal injury [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2006 The objective of this case report was to present the development of implantation cyst following the perforating corneal injury, the problems related to the treatment, including total surgical excision of the cyst, the secondary cataract extraction ...
Jovanović Miloš, Latković Zoran
doaj +1 more source
Pattern of congenital eye anomalies in children: A study from rural tertiary care hospital
Asian Journal of Medical Sciences, 2022 Background: Congenital eye anomalies are an important cause of childhood blindness. Worldwide, there are a lot of variations in the spectrum of congenital eye anomalies. The key to preventing childhood blindness is early detection and intervention of the
Rakhi Jain +2 more
doaj +1 more source
Annals of Human Genetics, Volume 89, Issue 5, Page 333-341, September 2025.ABSTRACT This review addresses the genetics of acne vulgaris, the most common skin disease. It is characterized by the presence of comedones (blackheads), papules, and pustules. The condition is associated with sebaceous glands in the face and chest, which produce an oily substance called sebum.
Maurice A. M. Van Steensel
wiley +1 more source
A rare case of stickler marshall syndrome
TNOA Journal of Ophthalmic Science and Research, 2020 A 35 year old female presented to us with sudden painless diminution of vision in the right eye (RE) since 10 days. There was no history of trauma. She gave systemic history of hearing loss since 4 years of age and also complained of joint pains on and ...
Bharat Gurnani, Kirandeep Kaur
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Veterinary Ophthalmology, Volume 28, Issue 5, Page 862-865, September 2025.ABSTRACT Study Objective To investigate the prevalence and clinical appearance of ocular abnormalities in a US and Canadian population of cats registered with the Companion Animal Eye Registry (CAER) between 2013 and 2023. Methods All complete (131) feline CAER exam forms from 2013 to 2023 in the OFA database, were reviewed. Available pedigrees of cats
Emma C. Collins, Kathryn A. Diehl
wiley +1 more source
Surgical Management and Scheimpflug Analysis of an Atypical Lens Coloboma
Case Reports in Ophthalmology, 2012 A lens coloboma is not a true coloboma; it is just a zonular absence that causes a defect in the lens equator and hence a more spherical lens. It can be isolated or in association with iris, choroid or retinal colobomas.
Julio C. Hernadez-Camarena +3 more
doaj +1 more source
Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants
American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev +14 more
wiley +1 more source