Results 51 to 60 of about 75,855 (278)

Femtosecond laser-assisted cataract surgery for complex cataracts – A review

Indian Journal of Ophthalmology
Since its inception in 2009, femtosecond laser-assisted cataract surgery (FLACS) has become an alternative to conventional phacoemulsification cataract surgery (CPCS).
David Z Chen, Soon-Phaik Chee
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

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia [PDF]

, 2018
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non ...
Bertini, Enrico, Coarelli, Giulia, Ferraldeschi, Michela, Fornasiero, Arianna, Frontali, Marina, Nicita, Francesco, Ristori, Giovanni, Romano, Silvia, Salvetti, Marco, Spadaro, Maria, Travaglini, Lorena   +10 more
core   +1 more source

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

American Journal of Medical Genetics Part A, EarlyView.
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

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

A medieval fallacy: the crystalline lens in the center of the eye. [PDF]

, 2016
ObjectiveTo determine whether, as most modern historians have written, ancient Greco-Roman authors believed the crystalline lens is positioned in the center of the eye.BackgroundHistorians have written that statements about cataract couching by Celsus ...
Hadi, Tamer M, Leffler, Christopher T, Schwartz, Daniel, Schwartz, Stephen G, Udupa, Akrithi   +4 more
core   +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, EarlyView.
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

Distribution of ocular biometric parameters and optimal model of anterior chamber depth regression in 28,709 adult cataract patients in China using swept‐source optical biometry

BMC Ophthalmology, 2021
Background The purpose of this study was to evaluate the ocular biometric parameters in adult cataract patients from China and create an anterior chamber depth (ACD) regression model.
Qiong Lei, Haixia Tu, Xi Feng, Julio Ortega-Usobiaga, Danmin Cao, Yong Wang   +5 more
doaj   +1 more source

Prevalence of age-related macular degeneration in Nakuru, Kenya: a cross-sectional population-based study. [PDF]

, 2013
BACKGROUND: Diseases of the posterior segment of the eye, including age-related macular degeneration (AMD), have recently been recognised as the leading or second leading cause of blindness in several African countries.
Bastawrous, Andrew, Foster, Allen, Kuper, Hannah, Leung, Irene, Mathenge, Wanjiku, Peto, Tunde   +5 more
core   +6 more sources

Tree shrew model of early diabetic retinopathy reveals microvascular dysfunction and identifies phosphoserine aminotransferase 1 as a novel therapeutic target

Animal Models and Experimental Medicine, EarlyView.
We developed an animal model of early diabetic retinopathy (DR) in the tree shrew by feeding a high‐fat and high‐sugar diet in combination with STZ. Physiological and biochemical index detection, hematoxylin and eosin staining, and transmission electron microscopy were performed to examine DR.
Min Qiu, Shurui Huo, Wenguang Wang, Na Li, Qingwei Zeng, Xiaomei Sun, Jiejie Dai, Pinfen Tong, Yuanyuan Han, Ling Zhao, Caixia Lu   +10 more
wiley   +1 more source