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Mesopic microperimetry in Stargardt disease: Application and reliability. [PDF]

Acta Ophthalmol
Abstract Purpose Mesopic microperimetry (mMP) is a promising functional endpoint in clinical trials for Stargardt disease type 1 (STGD1). This study evaluated the test–retest variability of mMP and influencing factors, which is essential for ensuring reliability in future STGD1 trials.
Kootstra SH, Pas JAAH, Dhooge PPA, Schmitz-Valckenberg S, Parodi MB, Herrmann P, Holz FG, Lotery AJ, Stingl K, Wheeler-Schilling TH, Boon CJF, Hoyng CB, Soraprazan Consortium.   +12 more
europepmc   +2 more sources

Therapy Approaches for Stargardt Disease

Biomolecules, 2021
Despite being the most prevalent cause of inherited blindness in children, Stargardt disease is yet to achieve the same clinical trial success as has been achieved for other inherited retinal diseases. With an early age of onset and continual progression
Elena Piotter, Michelle E McClements, Robert E MacLaren   +2 more
doaj   +3 more sources

Photorefractive keratectomy in a patient with Stargardt disease: Case report [PDF]

SAGE Open Medical Case Reports
This case presents a successful outcome following photorefractive keratectomy surgery in a patient with Stargardt disease. A 23-year-old female with a history of Stargardt disease oculus uterque and high myopia oculus uterque presented for refractive ...
Alyssa Pasvantis, Jinghua Chen, Walter Allan Steigleman   +2 more
doaj   +2 more sources

Stem cell therapy as treatment for Stargardt disease [PDF]

Therapeutic Advances in Ophthalmology
Stargardt disease or Juvenile Macular Degeneration is a rare genetic disorder caused by a mutation in the ABCA4 gene that results in degeneration of the macula and loss of central vision.
Erica Marks, Adith Anugu, Joseph Bisiani, Srinivas Pentyala   +3 more
doaj   +2 more sources

Identification and functional characterization of ABCA4 gene variants in three patients with Stargardt disease or retinitis pigmentosa [PDF]

Frontiers in Genetics
IntroductionThe diversity of phenotypes, ranging from inherited retinal dystrophies (such as Stargardt disease 1, cone–rod dystrophy 3, and retinitis pigmentosa 19) to late-onset age-related macular degeneration 2, has been attributed to loss-of-function
Qi Luo, Juan Huang, Lu Shi, Lu Shi, Guanghong Zhang, Linping Xue, Kehu Wu, Xiaoyu Li, Lei Yang, Dujun Li, Liangwei Mao, Jihong Luo   +11 more
doaj   +2 more sources

A Comparison of Randomizing Either One Eye or Both Eyes in Clinical Trials for Stargardt Disease Type 1 [PDF]

Ophthalmology Science
Objective: Designing a clinical trial for rare diseases such as Stargardt disease type 1 is challenging due to the limited patient population. In traditional clinical trial designs for inherited retinal diseases, often only 1 eye of each patient is used ...
Jeroen A.A.H. Pas, MD, Patty P.A. Dhooge, MD, PhD, Catherina H.Z. Li, MD, Rob W.J. Collin, PhD, Carel B. Hoyng, MD, PhD, Joanna IntHout, PhD   +5 more
doaj   +2 more sources

Late-onset Stargardt disease

American Journal of Ophthalmology Case Reports, 2022
Purpose: To report a case of late-onset Stargardt disease, discuss the differential diagnosis, and review the role of vitamin A supplementation in Stargardt disease.
Joseph B. Alsberge, Anita Agarwal
doaj   +1 more source

Bilateral visual loss, behavioral changes, and overlooking in a young child with stargardt disease: Neurodiagnostic considerations

American Journal of Ophthalmology Case Reports, 2022
Purpose: To illustrate the potential diagnostic confusion between Batten disease and Stargardt disease created by associated signs and symptoms. Observations: A six-year-old girl with vision loss and prominent behavioral changes and overlooking was ...
Michael C. Brodsky, Arlene Drack
doaj   +1 more source

Artificial intelligence for assessment of Stargardt macular atrophy

Neural Regeneration Research, 2022
Stargardt disease (also known as juvenile macular degeneration or Stargardt macular degeneration) is an inherited disorder of the retina, which can occur in the eyes of children and young adults.
Ziyuan Wang, Zhihong Jewel Hu
doaj   +1 more source

Identification of Two Novel Mutations in ABCA4 Gene in a Patient With Stargardt Disease

Acta Medica Iranica, 2023
Herein we investigated mutations in the ABCA4 gene in an Iranian patient with Stargardt disease using whole exome sequencing (WES). We evaluated genetic alterations in a 13-year-old Iranian girl with Stargardt disease and her family using WES.
Masoumeh Mohebi, Matin Heidari, Mansour Heidari   +2 more
doaj   +1 more source