Results 51 to 60 of about 2,630,317 (263)

Combating difficult capsulorhexis in white cataracts using strip capsulorhexis technique

Indian Journal of Ophthalmology. Case Reports
Background: Capsulorhexis in mature white cataracts has long been recognized as a tough task to conquer.[1] In this type of cataract, generally, the capsule tends to be thin.
Sanjay Chaudhary, Anshul Garg, Alka Pandey   +2 more
doaj   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Individuals born with congenital cataracts exhibit both persisting impairment and considerable recovery of white matter microstructure after sight restoration

Aperture Neuro
Individuals born with dense bilateral cataracts, for whom sight was restored later in life (congenital cataract reversal individuals), provide a unique opportunity to explore the impact of early (visual) experience on the development of the human brain.
Jordan D. Hassett, Cordula Hölig, Sunitha Lingareddy, Ramesh Kekunnaya, Brigitte Röder   +4 more
doaj   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 199, Issue 4, Page 256-268, December 2025.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Preoperative Evaluation of White Cataracts with the Pentacam

Photodiagnosis and Photodynamic Therapy
To evaluate the use of the Pentacam to analyse the presence or absence of fluid pockets under the anterior capsule and their significance in terms of surgical management and prevention of complications.Abant İzzet Baysal University Hospital, Bolu, Turkey DESIGN: Randomized, masked, prospective design METHODS: 60 patients with mature cataracts underwent
Güvenç Toprak, Yunus Alkan, Abdullah Bayrak   +2 more
openaire   +3 more sources

Bimanual decompression of intumescent cataract – Safety and refractive outcomes

Indian Journal of Ophthalmology
Intumescent white cataracts are challenging because of the high risk of intraoperative complications and poor outcomes. Several techniques have been proposed to mitigate altered lenticular dynamics; however, they require surgical expertise or additional ...
Rajesh Deshmukh, Alexander C Day, Mohsan Malik   +2 more
doaj   +1 more source

Clinical characteristics of congenital and developmental cataract in Kazakhstan

Indian Journal of Ophthalmology, 2022
Purpose: To study and describe clinical characteristics of congenital and developmental cataract at a tertiary eye care facility. Methods: In this retrospective study, 942 children (1311 eyes) presenting with congenital/developmental cataract over a 10 ...
Aliya Kabylbekova, Serik Meirmanov, Altyn Aringazina, Lukpan Orazbekov, Ardak Auyezova   +4 more
doaj   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 199, Issue 4, Page 392-404, December 2025.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Siblings With Duchenne Muscular Dystrophy: Exploring Diagnosis Age and Disease Progression in a Genetic Therapy‐Naïve Cohort

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction Duchenne muscular dystrophy (DMD) is the most common pediatric muscular dystrophy. Typically, there is a ~ 2‐year delay between symptom onset and diagnosis. Limited data on outcomes in early‐diagnosed individuals have limited the understanding of the clinical impact of early diagnosis.
Vaishnavi Brahmamdam, Cuixia Tian, Niki Armstrong, Valentina Pilipenko, Lisa J. Martin, Alexander Zygmunt, Irina Rybalsky, Lisa Reebals, Chinmayee B. Nagaraj   +8 more
wiley   +1 more source