Results 21 to 30 of about 10,317 (215)

Clinical profile and demographic distribution of Stargardt disease phenotypes: An Electronic medical record-driven big data analytics from a multitier eye care network

Indian Journal of Ophthalmology, 2023
Purpose: To describe the demographics and clinical profile of Stargardt disease in patients presenting a multitier ophthalmology hospital network in India.
Anthony Vipin Das, Ragukumar Venugopal, Brijesh Takkar, Sumant Sharma, Neelima Balakrishnan, Raja Narayanan, Deepika Parameswarappa, Srikanta Kumar Padhy   +7 more
doaj   +1 more source

Optical coherence tomography aspects of Stargardt's disease: case report [PDF]

, 2006
The term fundus flavimaculatus (Stargardt disease) describes a group of inherited macular dystrophies characterized by multiple yellow to yellow-white flecks at the level of the retinal pigment epithelium.
Allemann, Norma, Berezovsky, Adriana, Gouveia, Enéias Bezerra, Matte, Guilherme, Morales, Maira Saad De Ávila, Sallum, Juliana Maria Ferraz   +5 more
core   +2 more sources

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report

BMC Ophthalmology, 2021
Background We present 3 members of a family with macular dystrophy, originally diagnosed as Stargardt disease, with a significantly variable age at onset, caused by a heterozygous mutation in CRX.
Saoud Al-Khuzaei, Karl A. Z. Hudspith, Suzanne Broadgate, Morag E. Shanks, Penny Clouston, Andrea H. Németh, Stephanie Halford, Susan M. Downes   +7 more
doaj   +1 more source

Diagnostic Challenges in ABCA4-Associated Retinal Degeneration: One Gene, Many Phenotypes

Diagnostics, 2023
(1) Purpose: ABCA4-associated retinal degeneration (ABCA4-RD) is a phenotypically diverse disease that often evades diagnosis, even by experienced retinal specialists.
Tien-En Tan, Rachael Wei Chao Tang, Choi Mun Chan, Ranjana S. Mathur, Beau J. Fenner   +4 more
doaj   +1 more source

Photo-damage, photo-protection and age-related macular degeneration [PDF]

, 2015
Age-related macular degeneration (AMD) is a degenerative retinal disease that causes blindness in people 60-65 years and older, with the highest prevalence appearing in people 90 years-old or more.
Marquioni Ramella, Melisa Daniela, Suburo, Angela Maria   +1 more
core   +1 more source

The common ABCA4 variant p.Asn1868ile shows nonpenetrance and variable expression of stargardt disease when present in trans with severe variants [PDF]

, 2018
PURPOSE. To assess the occurrence and the disease expression of the common p.Asn1868Ile variant in patients with Stargardt disease (STGD1) harboring known, monoallelic causal ABCA4 variants. METHODS.
Bax, N.M. (Nathalie), Blokland, E.A.W. (Ellen), Boon, C.J.F. (Camiel), Born, L.I. (Ingeborgh) van den, Cornelis, S.S. (Stéphanie S.), Cremers, F.P.M. (Frans), Hoyng, C.B. (Carel), Jacobs-Camps, M.H.M. (Marlie H. M.), Klaver, C.C.W. (Caroline), Lugtenberg, D. (Dorien), Plomp, A. (Astrid), Pott, J.-W.R. (Jan-Willem R.), Rohrschneider, K. (Klaus), Roosing, S. (Susanne), Runhart, E.H. (Esmee H.), Sangermano, R. (Riccardo), Thiadens, A.A.H.J. (Alberta), van der Velde-Visser, S.D. (Saskia D.), Verheij, J.B. (Joke)   +18 more
core   +1 more source

Epiretinal membrane removal in patients with Stargardt disease

Indian Journal of Ophthalmology, 2015
Epiretinal membranes (ERMs) in Stargardt disease have been known to undergo spontaneous separation in children. Results of surgical intervention in adult patients with Stargardt disease have rarely been reported.
Muna Bhende, Bindu Appukuttan, Ekta Rishi   +2 more
doaj   +1 more source

Stem Cell Ophthalmology Treatment Study (SCOTS): Bone Marrow-Derived Stem Cells in the Treatment of Stargardt Disease

Medicines, 2021
Background: Stargardt Disease is the most common inherited macular degeneration, typically resulting in progressive central vision loss and legal blindness at an early age.
Jeffrey N. Weiss, Steven Levy
doaj   +1 more source

Swept-source optical coherence tomography study of choroidal morphology in Stargardt disease

Oman Journal of Ophthalmology, 2018
BACKGROUND:Stargardt disease, a juvenile retinal dystrophy, may show secondary changes in the choroid which may have importance while considering future treatments such as stem cell transplant.
Dhanashree Ratra, Durgasri Jaishankar, Ramya Sachidanandam, Hatim Yusufali, Vineet Ratra   +4 more
doaj   +1 more source

Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options [PDF]

, 2016
Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4 Significant advances have been made over the last 10 years in our understanding of both the
Fujinami, K, Michaelides, M, Strauss, RW, Tanna, P   +3 more
core   +1 more source