Results 81 to 90 of about 10,463 (202)

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, Volume 110, Issue 3, Page 336-346, September 2026.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Astigmatic changes after Descemet membrane endothelial keratoplasty (DMEK) in decompensated penetrating keratoplasty grafts

Acta Ophthalmologica, Volume 104, Issue 5, Page e516-e529, August 2026.
Abstract Purpose To evaluate the surgery‐induced changes of astigmatism after Descemet membrane endothelial keratoplasty (DMEK) in eyes with failed previous penetrating keratoplasty (PK). Design Retrospective, interventional cohort study based on prospective DMEK database.
Florian Thomas Steinberg, Jithmi Weliwitage, Marie von Berg, Silvia Schrittenlocher, Simona Schlereth, Claus Cursiefen, Björn Bachmann   +6 more
wiley   +1 more source

Changes in choroidal and retinal thickness 6 months before and during 18 months of orthokeratology lens treatment in myopic children

Acta Ophthalmologica, Volume 104, Issue 5, Page e578-e589, August 2026.
Abstract Purpose To investigate changes in choroidal and retinal thickness before and during myopia control treatment with orthokeratology lenses (OKL) in myopic children. Methods This was a sub‐study of CONTROL and CONTROL2 studies. The present study was a 2‐year, prospective, single‐group interventional study consisting of a 6‐month pre‐treatment ...
P. O. Hansen, F. Møller, T. M. Jakobsen
wiley   +1 more source

Beyond intracranial pressure: Cerebrospinal fluid compartmentalization in spaceflight‐associated neuro‐ocular syndrome

Experimental Physiology, EarlyView.
Susan P. Mollan, Damian M. Bailey
wiley   +1 more source

Barriers to Ophthalmologic Care Reported by Family Caregivers of Users and Non‐Users With Intellectual Disabilities

Journal of Intellectual Disability Research, Volume 70, Issue 8, Page 845-857, August 2026.
ABSTRACT Background People with intellectual disabilities (IDs) are more likely to experience vision‐related impairments, yet they face many barriers to accessing eye care. Although previous studies have described these barriers, few have compared barriers reported by families who have and have not accessed ophthalmologic care, which may provide ...
Chiun‐Ho Hou, Yueh‐Ching Chou, Shu‐Fang Shih, Christy Pu   +3 more
wiley   +1 more source

Clinical Characteristics and Analysis of Spontaneous Consecutive Exotropia in Children with Refractive Accommodative Esotropia

Türk Oftalmoloji Dergisi
Objectives: To assess the clinical characteristics and risk factors associated with spontaneous consecutive exotropia (ScXT) in children diagnosed with refractive accommodative esotropia (RAET). Materials and Methods: A retrospective analysis of medical
Aysel Pelit, Nazife Sefi Yurdakul
doaj   +1 more source

Prevalence of Refractive Errors among the Madrassah Students of Karachi and Sukkur

Pakistan Journal of Medical Research
Background: Visual impairment caused by refractive errors is one of the most common issues faced by school-age children. Despite ongoing developments in access to health care, multiple factors, including awareness and recognition of issue, still ...
Mazhar ul Hasan, Saba Alkhairy, Nimra Akram   +2 more
doaj   +2 more sources

The results of Femto-LASIK in the correction of hypermetropia and evaluation of patient satisfaction with the effect obtained

Acta Biomedica Scientifica
Difficulties in correcting hypermetropia and predicting the refractive effect require an optimal choice of correction of medium and high degree hyperopia. At the same time, it is also important for the patient to adapt to the new quality of vision.
T. N. Frolova, L. S. Khlebnikova
doaj   +1 more source

High Hypermetropia [PDF]

Proceedings of the Royal Society of Medicine, 1929
openaire   +2 more sources