Results 41 to 50 of about 294,296 (158)

Large Conjunctival Inclusion Cyst after Anterior Approach Ptosis Surgery

, 2022
An 8‑year‑old male child who underwent an anterior approach left upper lid levator resection to correct congenital ptosis. After 6 months, he developed mechanical ptosis secondary to a painless cystic mass on his upper lid.
Schellini, Silvana A. [UNESP], Gonzalez, Jorge Cuevas, Marqués‑Fernández, Victoria E., Galindo‑Ferreiro, Alicia   +3 more
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Small incision versus conventional transcutaneous levator resection in the management of ptosis with good and excellent levator action

Journal of the Egyptian Ophthalmological Society, 2015
Purpose The aim of this study is to compare small incision levator and conventional transcutaneous levator resection in the management of cases of ptosis with good and excellent levator action. Patients and methods This is a prospective comparative study
Ayman Abd El Ghafar
doaj   +1 more source

Unraveling congenital ptosis with the aid of the pediatric perimeter device

Indian Journal of Ophthalmology, 2023
Background: Ocular morbidity with an early onset can have a significant impact on the long-term development of an individual. Hence, careful assessment of visual functions early on is very important.
Monika Thakur, Goura Chattannavar, Ranindita Saha, Himabindu Singh, Ramesh Kekunnaya, PremNandhini Satgunam   +5 more
doaj   +1 more source

Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We have identified 4 pathogenic/likely pathogenic changes and 2 variants of uncertain significance, 3 of which were novel. The identification of disease‐causing variants in the CRYAA, MYH9, RP2, and CLNC1 genes allowed us to establish an accurate genetic diagnosis of inherited cataract and to describe overlapping clinical phenotypes.
Kristiyana Vitanova, Kunka Kamenarova, Nevyana Veleva‐Krasteva, Kalina Mihova, Yoanna Kaneva, Reni Tzveova, Martin Georgiev, Delyan Georgiev, Ivanka Dimova, Alexander Oscar, Radka Kaneva   +10 more
wiley   +1 more source

Heart Transplant for Noncompaction Cardiomyopathy in NONO‐Related Syndromic Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Silent NONO variant c.348G>A caused exon 4 skipping, frameshift, and nonsense‐mediated decay in a boy with neurodevelopmental delay and severe left ventricular noncompaction requiring heart transplantation in early childhood. Stable graft function at 14 years highlights favorable long‐term cardiac outcome; literature review confirms a recognizable ...
Julia S. Singer, Dorota Garczarczyk‐Asim, Miriam Michel, Thomas Müller, Lukas Hackl, Andreas R. Janecke   +5 more
wiley   +1 more source

Comparing the symmetry of upper eyelid following unilateral ptosis correction

BMC Ophthalmology, 2021
Background Margin Reflex Distance 1(MRD 1) only describes the central height of upper eyelid and relies on the examiner’s experience and disregards eyelid contour abnormalities.
Hasan Aytogan, Emre Ayıntap
doaj   +1 more source

Distal Agrin (AGRN) Congenital Myasthenic Syndrome With Mitochondrial Dysfunction

European Journal of Neurology, Volume 33, Issue 7, July 2026.
ABSTRACT Background Agrin‐congenital myasthenic syndrome (AGRN‐CMS) is a rare, heterogeneous genetic disorder of the neuromuscular transmission that can present from infancy to adulthood. The clinical phenotype includes distal weakness mimicking distal myopathies.
Mariana Manoel Oku, Zhiyv Niu, Duygu Selcen, William J. Litchy, Margherita Milone   +4 more
wiley   +1 more source

Medication Errors in Perioperative Nursing: A Scoping Review

Journal of Clinical Nursing, Volume 35, Issue 7, Page 2921-2933, July 2026.
ABSTRACT Aim To map the current literature on the characteristics of nurse‐related medication errors in perioperative healthcare settings. Design A scoping review. Methods This scoping review used the five‐stage framework developed by Arksey and O'Malley (2005).
Chamila Wickramasinghe, Sharon Latimer, Brigid M. Gillespie   +2 more
wiley   +1 more source

Refractive Error, Srabismus and Amblyopia in Congenital Ptosis

, 2010
INTRODUCTION: Congenital ptosis is often associated with visual impairment. The aim of the study is to find out the pattern of refractive error,strabismus and amblyopia in patients with congenital ptosis in a hospital setting.
R Thapa
core   +1 more source