Results 71 to 80 of about 22,474 (255)
Iris prosthesis in traumatic aniridia as an attempt to control refractory glaucoma induced by silicone oil in the anterior chamber: case report [PDF]
, 2005 The objective of this report is to demonstrate the effectiveness of an iris prosthesis to treat a refractory glaucoma induced by silicone oil in the anterior chamber. This case is about a patient who suffered a trauma caused by firearm shrapnel.
Abib, Fernando César +4 more
core +3 more sources
Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort
Clinical Genetics, Volume 108, Issue 5, Page 532-552, November 2025.This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir +7 more
wiley +1 more source
Ophthalmic and Physiological Optics, Volume 45, Issue 7, Page 1837-1844, November 2025.Abstract Purpose Angle lambda (λ) is defined as the angle between the line of sight and the pupillary axis at the entrance pupil. We previously developed a child‐friendly and portable method to measure this angle in daily practice. In a given population, angle λ fluctuates according to age or refractive error.
Maxence Rateaux +3 more
wiley +1 more source
A WAGR region gene between PAX-6 and FSHB expressed in fetal brain [PDF]
, 1994 Developmental delay or mental retardation is a frequent component of multi-system anomaly syndromes associated with chromosomal deletions. Isolation of genes involved in the mental dysfunction in these disorders should define loci important in brain ...
Bruns, Gail +4 more
core
Identification of Genetic Variants Causing Paediatric Cataract in Myanmar
Clinical Genetics, Volume 108, Issue 4, Page 457-462, October 2025.Up to 60% of children with cataract in Myanmar have a causative variant in a known cataract gene. This is a similar rate to other populations screened to date, but highlights that there are more cataract genes left to identify. ABSTRACT Genetic testing for paediatric cataract detects a cause in 50%–70% of affected children but is as low as 20% in some ...
Johanna L. Jones +16 more
wiley +1 more source
Structural brain abnormalities in 12 persons with aniridia [version 2; referees: 2 approved]
F1000Research, 2017 Background: Aniridia is a disorder predominately caused by heterozygous loss-of-function mutations of the PAX6 gene, which is a transcriptional regulator necessary for normal eye and brain development. The ocular abnormalities of aniridia have been well
Madison K. Grant +4 more
doaj +1 more source
Journal of the American Medical Association, 1915 The case history here presented, together with the striking family history of heredity, is regarded of sufficient interest for publication. George McI., aged 27, was referred to my Wills Hospital service, Nov. 2, 1914. The right eye had been lost from some unknown cause in childhood and presented a shrunken stump.
openaire +1 more source
Comparative Study of Xenobiotic-Free Media for the Cultivation of Human Limbal Epithelial Stem/Progenitor Cells. [PDF]
, 2017 The culture of human limbal epithelial stem/progenitor cells (LSCs) in the presence of animal components poses the risk of cross-species contamination in clinical applications.
Chen, Luxia +2 more
core +1 more source
Molecular Therapy: Nucleic Acids, 2018 Aniridia is a rare congenital syndrome that is associated with reduced visual acuity and progressive loss of vision. Aniridia patients may also develop systemic health issues associated with defects in the pancreas, digestive, and central nervous systems.
Kevin Yongblah +4 more
doaj +1 more source