Results 141 to 150 of about 6,088 (212)

Mosaicism for Cohen–Gibson Syndrome in a Female Individual With Overgrowth and Neurodevelopmental Delay

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
Postzygotic EED mosaicism: c.1091G > T; p.(Trp364Leu) in a 12‐year‐old female with overgrowth–intellectual disability syndrome (Cohen–Gibson syndrome). Variant allele fractions: 31% blood, 30% saliva, 11%–17% buccal mucosa. This expands the spectrum of EED‐related disorders, highlighting mosaic screening for diagnosis, counselling, and future therapies.
Fei Song, Manuel Michels, Beate Betz, Walburga Vorhoff, Teresa Neuhann, Lisa Senninger, Dagmar Wieczorek   +6 more
wiley   +1 more source

Macular microvascular assessment in glaucoma: Tool output comparison and intersession reliability

Optometry and Vision Science, Volume 103, Issue 10, October 2026.
ABSTRACT Purpose To compare outputs and evaluate the intersession reliability of macular vascular metrics from the Erlangen‐Angio (EA)‐tool and the optical coherence tomography angiography vascular analyser (OCTAVA) Tool in glaucoma. Methods Ninety‐three participants with open‐angle glaucoma from the Individualised Perimetry Progression Observations in
Kowsigan Magesan, Vanessa T. S. Tang, Siavash Salmanzadeh, William H. Morgan, Geoffrey Chan, Allison M. McKendrick   +5 more
wiley   +1 more source

Determining Genetic Cause of Posterior Staphylomas in Eyes with Pathologic Myopia by Whole Exome Sequencing. [PDF]

Ophthalmol Sci
Wang Z, Chen C, Wu Y, Nagata Y, Tanaka T, Xie S, Lu H, Wang Y, Xiong J, Zhang L, Kamoi K, Ohno-Matsui K.   +11 more
europepmc   +1 more source

Automated Classification and Detection of Staphyloma with Ultrasound Images in Pathologic Myopia Eyes. [PDF]

Ultrasound Med Biol, 2022
Ito K, Lye TH, Dan YS, Yu JDG, Silverman RH, Mamou J, Hoang QV.   +6 more
europepmc   +1 more source

Understanding higher‐order aberrations in keratoconus

Optometry and Vision Science, Volume 103, Issue 10, October 2026.
ABSTRACT Keratoconus is characterized by progressive thinning and increasing irregularity of the cornea, leading to substantial degradation in optical quality through the induction of both lower‐ and higher‐order aberrations (HOAs). In addition to inducing myopic and astigmatic refractive error, asymmetric corneal steepening generates complex optical ...
Gavin Swartz, Khyber Alam, Alex Gentle, Laura E. Downie   +3 more
wiley   +1 more source

LED red light for atrophy and microcirculation in pathologic myopia (RAMP): study design and protocol for a multicentre randomised controlled trial. [PDF]

BMJ Open
Zhang J, Yu J, Wang X, Sun T, Zou YL, Zou H, Xu Y.   +6 more
europepmc   +1 more source

Associations between Intraocular Pressure or Glaucoma Medication with Axial Length and Pathologic Myopia Incidence and Progression. [PDF]

Ophthalmol Sci
Wong MW, Li H, Dan YS, Lor SC, Soh R, Hoang QV, Chong RS.   +6 more
europepmc   +1 more source

Delivery Timing, Out‐Of‐Pocket Maternity Costs, and Postpartum Care Utilization: An Instrumental Variable Analysis Among Commercially Insured Women

Health Services Research, Volume 61, Issue 5, October 2026.
ABSTRACT Objective To examine whether out‐of‐pocket costs during pregnancy and delivery affect use of postpartum care. Study Setting and Design Because health insurance deductibles and limits reset annually, the timing of childbirth within that year quasi‐randomly assigns people to different levels of cost‐sharing during pregnancy+delivery versus ...
Rebecca A. Gourevitch, Jessica L. Cohen, Tara Shakley, Sung Min Park, Mary Beth Landrum, Meredith B. Rosenthal, Mark W. Friedberg, Anna D. Sinaiko   +7 more
wiley   +1 more source

Macular vortex vein with choroidal neovascularisation in pathologic myopia

Indian Journal of Ophthalmology, 2019
Ike M Schouten, Amit H Palkar, Muna Bhende   +2 more
doaj   +1 more source

Assessment of Ocular Deformation in Pathologic Myopia Using 3-Dimensional Magnetic Resonance Imaging.

JAMA Ophthalmol, 2023
Luo N, Wang Y, Alimu S, Zhao L, Huang Y, Guo Z, Zhao X, Liu B, Chen S, Lu L.   +9 more
europepmc   +1 more source