Results 1 to 10 of about 82,730 (259)

The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation [PDF]

, 2002
Mutations in the photopigment rhodopsin are the major cause of autosomal dominant retinitis pigmentosa. The majority of mutations in rhodopsin lead to misfolding of the protein.
Cheetham, ME, Luthert, PJ, Munro, PMG, Saliba, RS   +3 more
core  

Bartonella henselae related unilateral anterior uveitis and subsequent multifocal retinitis in a case under certolizumab treatment

European Journal of Case Reports in Internal Medicine
Introduction: A case of ocular bartonellosis under anti-tumour necrosis factor treatment is described. Case description: A 29-year-old woman with psoriasis who had been on certolizumab treatment was examined with a left visual deterioration following a ...
Mustafa Kayabaşı, Işıl Kefeli, Pınar Çakar Özdal, Ali Osman Saatci   +3 more
doaj   +1 more source

ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]

, 2018
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal, Alkanderi, Sumaya, Alkuraya, Fowzan S., Cairns, George, Edwards, Noel, Elmaghloob, Yasmin, Ewida, Nour, Ismail, Shehab, Miles, Colin G., Molinari, Elisa, Ramsbottom, Simon A., Rice, Sarah J., Sammut, Veronica, Sayer, John A., Shaheen, Ranad, Srivastava, Shalabh, Steel, David H., Stephen, Louise A., White, Kathryn   +18 more
core   +1 more source

Association of Retinal Vascular Caliber and Age-Related Macular Degeneration in Patients With the Acquired Immunodeficiency Syndrome. [PDF]

, 2018
PurposeTo evaluate the relationship between retinal vascular caliber and AMD in patients with AIDS.MethodsParticipants enrolled in the Longitudinal Study of the Ocular Complications of AIDS had retinal photographs taken at enrollment.
Danis, Ronald P, Hunt, Peter W, Jabs, Douglas A, Pak, Jeong Won, Van Natta, Mark L   +4 more
core   +1 more source

Loss of Foveal Cone Structure Precedes Loss of Visual Acuity in Patients With Rod-Cone Degeneration. [PDF]

, 2019
PurposeTo assess the relationship between cone spacing and visual acuity in eyes with rod-cone degeneration (RCD) followed longitudinally.MethodsHigh-resolution images of the retina were obtained using adaptive optics scanning laser ophthalmoscopy from ...
Bensinger, Ethan, Duncan, Jacque L, Griffin, Shane, Loumou, Panagiota, Porco, Travis C, Qin, Jia, Ratnam, Kavitha, Rinella, Nicholas, Roorda, Austin, Saud, Asma   +9 more
core  

Q Fever Endocarditis with Bilateral Multifocal Retinitis: A Case Report

Journal of Current Ophthalmology
Purpose: To describe a case of bilateral retinitis in a patient with endocarditis and a serologically confirmed Q fever. Methods: A single case report documented with multimodal imaging.
Rym Maamouri, Olfa Beizig, Khadija Mzoughi, Monia Cheour   +3 more
doaj   +1 more source

Bilateral extensive CMV retinitis in a sick child – Harbinger of severe combined immunodeficiency

Journal of Pediatric Critical Care, 2017
Cytomegalovirus (CMV) retinitis is a marker of severe cellular immunodeficiency. Severe combined immunodeficiency (SCID) must be considered in infants presenting with CMV retinitis in a non-HIV setting.
H S Vinayaka, Tummala Sujith Kumar, G V Basavaraj, Sagar Bhattad   +3 more
doaj   +1 more source

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy [PDF]

, 2014
Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c ...
Arts, Heleen H, Coppieters, Frauke, Cremers, Frans PM, De Baere, Elfride, de Vrieze, Erik, den Hollander, Anneke I, Hetterschijt, Lisette, Hoyng, Carel B, Kremer, Hannie, Lambertus, Stanley, Lamers, Ideke JC, Letteboer, Stef JF, Peters, Theo A, POC1B Study Group, the, Roepman, Ronald, Roosing, Susanne, van den Born, L Ingeborgh, van Wijk, Erwin   +17 more
core   +2 more sources

Necrosis retiniana por citomegalovirus: como presentación inicial de un caso de SIDA

Gaceta Médica Boliviana, 2020
La retinitis por CMV es la infección ocular oportunista más frecuente en los pacientes con SIDA. La necrosis retiniana aguda suele corresponder a infecciones por VVZ o VHS, y sólo en un pequeño porcentaje de casos es secundaria a infección por CMV.
Rolando Quispaya Q, Paola Fernandez M.
doaj   +1 more source

Sphingolipids as emerging mediators in retina degeneration [PDF]

, 2019
The sphingolipids ceramide (Cer), sphingosine-1-phosphate (S1P), sphingosine (Sph), and ceramide-1-phosphate (C1P) are key signaling molecules that regulate major cellular functions.
Prado Spalm, Facundo Heber, Rotstein, Nora Patricia, Simon, Maria Victoria, Vera, Marcela Sonia   +3 more
core   +1 more source