Results 81 to 90 of about 3,282 (209)
Assessing Splicing Variants in the PAX6 Gene: A Comprehensive Minigene Approach
Journal of Cellular and Molecular Medicine, Volume 29, Issue 6, March 2025.ABSTRACT Haploinsufficiency of the PAX6 gene causes aniridia, a congenital eye disorder characterised by the absence or malformation of the iris and foveal hypoplasia. Previous studies indicate that pathogenic splice variants account for up to 15% of all disease‐causing PAX6 variants. However, this proportion may be significantly underestimated because
Kseniya Davydenko +2 more
wiley +1 more source
Ligneous conjunctivitis in a patient of juvenile colloid milia: A rare association
Indian Journal of Ophthalmology, 2015 We present to you, case of a 10-year-old female with h/o redness, watering since 8 months. Her vision was 20/30 in right eye and 20/70 in left eye. Conjunctiva had plenty of purulent discharge and palpebral conjunctiva was studded with membranous lesions.
Shubhangi Sudhir Bhave +1 more
doaj +1 more source
Diagnostic classification of retinal degenerative diseases São Paulo and Vale Retina groups [PDF]
, 2003 PURPOSE: To organize a regional data bank of all individuals that have retinal degenerative diseases, with the aim to classify each patient according to the type of distrophy and pattern of inheritance. METHODS: During the meeting of the São Paulo Retina
Farah, Michel Eid +2 more
core +2 more sources
American Journal of Medical Genetics Part A, Volume 197, Issue 1, January 2025.ABSTRACT We studied three brothers and a maternal half‐brother featuring global developmental delay, mild to moderate intellectual disability, epilepsy, microcephaly, and strabismus. All had bilateral perisylvian and perirolandic polymicrogyria, while some also had malformations of the hippocampus (malrotation and dysplasia), cerebellum (heterotopias ...
Naomi Laflamme +9 more
wiley +1 more source
Indian Journal of Ophthalmology, 2015 Metastatic lesions to the clivus have been reported in various cancers including lung cancer, prostate carcinoma, skin melanoma, and hepatocellular carcinoma. There have been only a few reports of breast cancer presenting with isolated clival metastasis.
Akhil Kapoor +4 more
doaj +1 more source
, 2017 Zika вірусна інфекція – актуальна проблема сьогодення, що має значні негативні наслідки у вагітних жінок. Вроджений Zika синдром характеризується в першу чергу мікроцефалією, аномаліями розвитку, порушенням зору і слуху.Zika virus infection is among ...
Vyzhga, Iu., Zvenigorodska, G.
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Ocular abnormalities in genetically deaf people [PDF]
, 2000 Purpose: In order to verify the prevalence of ocular abnormalities in patients who are deaf due to genetic causes, this paper presents the visual assessment of 97 deaf patients.
Brunoni, Decio +3 more
core +3 more sources
Journal of Ophthalmology, Volume 2025, Issue 1, 2025.Purpose: To objectively evaluate ocular cycloposition using conventional color fundus photography (CFP) and Spectralis optical coherence tomography (OCT) in exotropic patients undergoing horizontal strabismus surgery and to assess the agreement between these methods.
Kaveh Abri Aghdam +7 more
wiley +1 more source
No evidence for a genetic blueprint: The case of the "complex" mammalian photoreceptor
Indian Journal of Ophthalmology, 2015 Despite the intensity of the search for genes causing inherited retinal degenerations over the past 3 decades, of the approximately 200 disease genes identified to date, all appear to be ordinary housekeeping genes specifying proteins playing basic ...
G Kumaramanickavel, M J Denton, M Legge
doaj +1 more source
A twin study of cilioretinal arteries, tilted discs and situs inversus [PDF]
, 2018 PURPOSE: To establish the prevalence and heritability of cilioretinal arteries (CRAs), tilted discs (TDs) and situs inversus (SI). METHODS: Fundus photos from the Twins UK Adult Twin registry twin database were analyzed: 1812 individuals, 526 complete ...
Baneke, AJ +4 more
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