Results 251 to 260 of about 48,210 (290)

OUTER RETINAL TUBULATION IN INHERITED RETINAL DEGENERATIVE DISEASE

Retina, 2013
To investigate the prevalence and characteristics of outer retinal tubulation (ORT) seen in inherited retinal degenerative diseases.A total of 354 eyes of 177 patients were examined with spectral domain optical coherence tomography. One hundred and twelve patients had retinitis pigmentosa, 58 patients had cone dystrophy, and 7 patients had the Bietti ...
Aya, Iriyama, Yukiko, Aihara, Yasuo, Yanagi   +2 more
openaire   +2 more sources

Inherited retinal disease

Acta Ophthalmologica, 2012
AbstractPurpose To illustrate several inherited retinal dystrophies and dysfunctions and their management in the ophthalmic genetic clinic.Methods A case presentation format will be used to illustrate different genetically determined retinal dystrophies and dysfunctions.
openaire   +1 more source

Adaptive Optics Imaging of Inherited Retinal Disease

Cold Spring Harbor Perspectives in Medicine, 2022
The human retina is amenable to direct, noninvasive visualization using a wide array of imaging modalities. In the ∼140 years since the publication of the first image of the living human retina, there has been a continued evolution of retinal imaging technology.
Jacque L, Duncan, Joseph, Carroll
openaire   +2 more sources

Intravitreal enzyme replacement for inherited retinal diseases

Current Opinion in Ophthalmology, 2023
Purpose of review This paper provides an update on intravitreal (IVT) enzyme replacement therapy (ERT) in metabolic retinal diseases; particularly neuronal ceroid lipofuscinosis type 2 (CLN2) also known as Batten disease. Recent findings ERT is being explored in CLN2 related Batten ...
Ana Catalina, Rodriguez-Martinez, James, Wawrzynski, Robert H, Henderson   +2 more
openaire   +2 more sources

Prenylation defects in inherited retinal diseases

Journal of Medical Genetics, 2014
Many proteins depend on post-translational prenylation for a correct subcellular localisation and membrane anchoring. This involves the covalent attachment of farnesyl or geranylgeranyl residues to cysteines residing in consensus motifs at the C-terminal parts of proteins.
Roosing, S., Roosing, S., Roosing, S., Collin, R.W.J., Collin, R.W.J., den Hollander, A.I., den Hollander, A.I., den Hollander, A.I., den Hollander, A.I., Cremers, F.P.M., Siemiatkowska, A.M., Siemiatkowska, A.M.   +11 more
openaire   +3 more sources

Inherited retinal disease-associated uveitis

Survey of Ophthalmology
Inherited retinal diseases (IRDs) are genetic disorders characterized by progressive photoreceptor function loss, often leading to significant visual impairment. Uveitis has been increasingly recognized in the clinical course of some IRDs. Despite advances in understanding the genetic causes and pathophysiology of IRDs, gaps remain in understanding the
Jia-Horung, Hung, Tanya, Jain, Anadi, Khatri, Ba Trung, Nguyen, Celine Dan-Tam, Nguyen, Negin, Yavari, Azadeh, Mobasserian, Irmak, Karaca, S, Saeed Mohammadi, Ankur Sudhir, Gupta, Chi Mong Christopher, Or, Amir, Akhavanrezayat, Cigdem, Yasar, Aim-On, Saengsirinavin, Ngoc Trong Tuong, Than, Frances Andrea, Anover, Osama, Elaraby, Dalia, El Feky, Woong-Sun, Yoo, Xiaoyan, Zhang, Zheng Xian, Thng, Diana V, Do, Quan Dong, Nguyen   +22 more
openaire   +2 more sources

Refractive Error in Inherited Retinal Disease

American Journal of Ophthalmology
Inherited retinal dystrophies (IRDs) lead to significant vision impairment. Refractive errors (REs) are also associated with vision impairment and an increased risk of ocular comorbidities and may compound impairment caused by IRDs. Identifying the pattern of RE in IRDs may assist in better management of patients with IRD and provide insights into ...
Shaden H. Yassin, Naomi E. Wagner, Thomas Khuu, Ryan Schmidt, Austin D. Igelman, Molly Marra, Hilary Schwartz, Evan Walker, Aaron Nagiel, Paul Yang, Lesley A. Everett, Mark E. Pennesi, Shyamanga Borooah   +12 more
openaire   +2 more sources

Photophobia in inherited retinal disease

Acta Ophthalmologica, 2007
AbstractPurpose To describe the phenotypes and genotypes of photophobia due to inherited retinal disease.Methods A case presentation format will be used to illustrate different genetically determined conditions leading to photophobia. Both clinical and electrophysiological phenotypes as well as genotypes will be discussed.Results Phenotypes and ...
openaire   +1 more source

PDE6B Mutation-associated Inherited Retinal Disease

International Ophthalmology Clinics, 2021
Séverine, Marconi, John T, Stout
openaire   +2 more sources

Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities

Progress in Retinal and Eye Research, 2022
Nina Schneider, Yogapriya Sundaresan, Prakadeeswari Gopalakrishnan   +2 more
exaly