Results 41 to 50 of about 22,300 (236)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Macular thickness in patients with refractive errors

Российский офтальмологический журнал, 2023
Purpose. To investigate the influence of the axial length of eyes on the average macular thickness and to develop a method for assessing this optical coherence tomography (OCT) parameter in patients with refractive errors. Material and methods. The study
A. A. Shpak, N. A. Morina, M. V. Korobkova   +2 more
doaj   +1 more source

Longitudinal Development of Refractive Error in Children With Accommodative Esotropia: Onset, Amblyopia, and Anisometropia. [PDF]

, 2016
Purpose: We investigated longitudinal changes of refractive error in children with accommodative esotropia (ET) throughout the first 12 years of life, its dependence on age at onset of ET, and whether amblyopia or anisometropia are associated with ...
Birch, Eileen E., Morale, Sarah E., Ren, Xiaowei, Wang, Jingyun   +3 more
core   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

The prevalence of refractive errors in 5–15 year-old population of two underserved rural areas of Iran

Journal of Current Ophthalmology, 2018
Purpose: To determine the prevalence of hyperopia and myopia and their associations with age and gender in 5- to 15-year-old children in underserved rural areas in Iran. Methods: In this cross-sectional study, sampling was done using a multistage cluster
Hassan Hashemi, Abbasali Yekta, Payam Nabovati, Fahimeh Khoshhal, Abbas Riazi, Mehdi Khabazkhoob   +5 more
doaj   +1 more source

Refraction changes in children with retinopathy of prematurity after transpupillary laser coagulation of the retina

Российский офтальмологический журнал, 2023
The improvement in nursing routine of premature babies with low and extremely low body weight has increased their survival rate. Along with the growing number of such children, retinopathy of prematurity (ROP) occurs relatively less often and its outcome
A. V. Myagkov, P. V. Rozental
doaj   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Concurrent laser-assisted in situ keratomileusis with high-fluence cross-linking versus laser-assisted in situ keratomileusis only in treatment of hyperopia

Journal of the Egyptian Ophthalmological Society, 2019
Purpose To compare refractive and corneal structural stability after laser-assisted in situ keratomileusis (LASIK) with and without concurrent prophylactic high-fluence cross-linking in the treatment of hyperopia.
Ahmed M Eid, Ahmed A Abdelghany, Ahmed S Abdelhalim, Ahmed M Sabry   +3 more
doaj   +1 more source

Prevalence of refractive error in Europe: the European Eye Epidemiology (E3) Consortium [PDF]

, 2015
To estimate the prevalence of refractive error in adults across Europe. Refractive data (mean spherical equivalent) collected between 1990 and 2013 from fifteen population-based cohort and cross-sectional studies of the European Eye Epidemiology (E3 ...
Anastasopoulos, E. (Eleftherios), Bertelsen, G. (Geir), Bron, A. (Alain), Buitendijk, G.H.S. (Gabrielle), Cougnard-Grégoire, A. (Audrey), Creuzot-Garcher, C. (Catherine), Cumberland, P. (Phillippa), Dartigues, J.-F., Delcourt, C. (Cécile), Duijn, C.M. (Cornelia) van, Erke, M.G. (Maja Gran), Fletcher, A. (Astrid), Foster, P.J. (Paul J.), Gieger, C. (Christian), Hammond, C.J. (Christopher), Hofman, A. (Albert), Hogg, R. (Ruth), Höhn, R. (René), Khawaja, A.P. (Anthony P.), Klaver, C.C.W. (Caroline), Korobelnik, J.-F. (Jean-François), Kuijpers, R.W.A.M. (Robert), Luben, R.N. (Robert N.), Mahroo, O. (Omar), Meitinger, T. (Thomas), Mirshahi, A. (Alireza), Pfeiffer, N. (Norbert), Rahi, J.S. (Jugnoo), Topouzis, F. (Fotis), Verhoeven, V.J.M. (Virginie), Vingerling, J.R. (Hans), Von Hanno, T. (Therese), Williams, K.M. (Katie M.), Wolfram, C. (Christian)   +33 more
core   +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, EarlyView.
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