Results 61 to 70 of about 435 (138)

Aspectos genéticos y clínicos del síndrome de usher Genetical and clinical aspects of Usher syndrome

Revista Cubana de Oftalmología, 2000
Con el objetivo de describir algunos aspectos genéticos y clínicos del Síndrome de Usher, se realizó un estudio descriptivo transversal en el Centro de Referencia Nacional de Retinosis Pigmentaria desde marzo de 1996 hasta junio de 1998, con 33 pacientes
Beatriz Dyce Gordon, Josefina Mejías Márquez, Mirtha Copello Noblet, Raisa Hernández Baguer, Irma Horrach Rosa   +4 more
doaj  

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, Volume 104, Issue 6, Page 604-615, September 2026.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

Multimodal imaging and intravitreal faricimab for polypoidal choroidal vasculopathy associated with a choroidal nevus in genetically confirmed Usher syndrome type 2: a case report

BMC Ophthalmology
Background Usher syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa (RP), sensorineural hearing loss, and vestibular dysfunction.
Jiyong Kim, Jaehwan Choi, Kiyoung Kim, Seung-Young Yu   +3 more
doaj   +1 more source

Bilateral Vasoproliferative Tumors in Usher Syndrome

Case Reports in Ophthalmology
Introduction: Vasoproliferative tumors (VPTs) can be associated with retinal dystrophy, but there are few well-documented cases and even fewer linked to Usher syndrome. Most reported cases are unilateral.
Francesco Pichi, Federico Rissotto, Khalid N. Qadha, Scott D. Smith, Arif O. Khan   +4 more
doaj   +1 more source

Choroidal Thickness Analysis in Patients with Usher Syndrome Type 2 Using EDI OCT

Journal of Ophthalmology, 2015
To portray Usher Syndrome type 2, analyzing choroidal thickness and comparing data reported in published literature on RP and healthy subjects. Methods. 20 eyes of 10 patients with clinical signs and genetic diagnosis of Usher Syndrome type 2.
L. Colombo, B. Sala, G. Montesano, C. Pierrottet, S. De Cillà, P. Maltese, M. Bertelli, L. Rossetti   +7 more
doaj   +1 more source

A rare type of Usher's syndrome.

Acta clinica Croatica, 2013
A case is presented of a very rare type of Usher's syndrome detected in a 30-year-old woman in her 28th week of pregnancy. She reported left eye visual impairment with a one-month history. She underwent standard ophthalmologic examination with additional procedures scheduled after childbirth, including fluorescein angiography, visual field (Goldman and
Gverovic Antunica, Antonela, Kastelan, Sanja, Bućan, Kajo, Ivanković, Mira, Radman, Maja, Karaman, Ksenija.   +5 more
openaire   +3 more sources

Narcissistic Traits and Narcissistic Personality Disorder in Dermatology With a Focus on Body‐Dysmorphic Disorder

International Journal of Dermatology, Volume 65, Issue 9, Page 1820-1827, September 2026.
There are many misconceptions about narcissistic personality disorder, not only in the public consciousness, but also in dermatological and aesthetic practice. Patients and their environment may both suffer from the symptoms. These conditions can be managed with psychotherapeutic interventions, but recognizing the psychological problem can be ...
Eszter Szlávicz, Péter Osváth, Jutta Major, Tamás Bancsók, Zsuzsanna Lengyel   +4 more
wiley   +1 more source

The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B

Scientific Reports
The MYO7A gene is known to be responsible for both syndromic hearing loss (Usher syndrome type1B:USH1B) and non-syndromic hearing loss including autosomal dominant and autosomal recessive inheritance (DFNA11, DFNB2).
Kizuki Watanabe, Shin-ya Nishio, Shin-ichi Usami, the Deafness Gene Study Consortium   +3 more
doaj   +1 more source

Neuropathy With Demyelinating Features in a Patient With Biallelic HARS1 Variants

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims The HARS1 gene encodes cytoplasmic histidyl‐tRNA synthetase, which catalyzes the ligation of histidine to tRNAHIS in the cytoplasm as an early step in protein biosynthesis and is essential for cell viability. Pathogenic variants in HARS1 have been associated with three phenotypes: autosomal dominant Charcot–Marie–Tooth (CMT)
Christina Del Greco, Allison R. Cale, Karl Haeberlein, Anthony Antonellis, Michael E. Shy, Tiffany Grider   +5 more
wiley   +1 more source

Awareness of Usher Syndrome and the Need for Multidisciplinary Care: A Cross-Occupational Survey of Allied Health Clinicians

Journal of Multidisciplinary Healthcare, 2023
Lauren N Ayton,1– 3,* Karyn L Galvin,4,* Lauren Johansen,5 Fleur O’Hare,1,3 Emily R Shepard5 1Department of Optometry and Vision Sciences, University of Melbourne, Parkville, VIC, Australia; 2Department of Surgery (Ophthalmology), University of ...
Ayton LN, Galvin KL, Johansen L, O'Hare F, Shepard ER   +4 more
doaj