Results 81 to 90 of about 7,292 (198)
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
Aniridia associated with congenital aphakia and secondary glaucoma
Indian Journal of Ophthalmology, 2009 We report a case of aniridia associated with congenital aphakia and secondary glaucoma. A 35-year-old male presented with aniridia, congenital aphakia and secondary glaucoma in both eyes.
Moreker Mayur +3 more
doaj
LifePAX6 haploinsufficiency-related congenital aniridia is frequently associated with ocular surface disease, including meibomian gland dysfunction (MGD), dry eye, limbal stem cell deficiency (LSCD), aniridia-associated keratopathy (AAK), and inflammation ...
Orsolya Németh +17 more
doaj +1 more source
A case of Hallermann-Streiff-Francois syndrome : an ophthalmological perspective [PDF]
, 2017 Hallermann-Streiff-François syndrome is a rare condition which offers multidisciplinary diagnostic and therapeutic challenges. The difficulty in dealing with these cases is compounded by the presentation at a very young age.
Vassallo, James
core
Lipodermoid Cyst: A Report of a Rare Caruncular Case [PDF]
, 2015 Ocular lipodermoid cysts and solid dermoid tumors are choristomas which are described as normal tissue growth in an abnormal location. Congenital epibulbar lipodermoid comprises adipose tissue that is covered by connective tissue.
Rajabi, Mohammad Taher, Ramezani, Koosha
core +2 more sources
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
Aqueous Humor Levels of Cytokines and Growth Factors in Patients with Congenital Aniridia
Oftalʹmologiâ, 2019 Purpose. To study the concentration of cytokines and growth factors in the aqueous humor of patients with congenital aniridia.Patients and methods.
A. A. Voskresenskaya +7 more
doaj +1 more source
Congenital Aniridia: Clinic, Genetics, Therapeutics, and Prognosis [PDF]
International Scholarly Research Notices, 2014 Congenital aniridia is a rare condition related to a deficiency in the PAX6 gene expression, which may occur as a result of a family inheritance or a sporadic occurrence. Additionally, this condition may occur as an isolated ocular phenotype or in association with a systemic syndrome. The most common abnormality is iris hypoplasia; however, a panocular
Pedro Calvão-Pires +3 more
openaire +2 more sources
Journal of Internal Medicine, Volume 299, Issue 5, Page 643-648, May 2026.
Josephine Wincent +8 more
wiley +1 more source
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