Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy [PDF]
PURPOSE: To describe the earliest features of ABCA4-associated retinopathy. DESIGN: Case series. PARTICIPANTS: Children with a clinical and molecular diagnosis of ABCA4-associated retinopathy without evidence of macular atrophy.
Fujinami, K +10 more
core +2 more sources
Comparison of structural and functional tests in primary open angle glaucoma
Purpose: To comparatively analyze the structural and functional tests used in the diagnosis and follow-up of glaucoma. Methods: Eighty eyes of 40 patients with primary open angle glaucoma (POAG) and 46 eyes of 23 healthy individuals were included in the ...
Umut Karaca +4 more
doaj +1 more source
Noninvasive Monitoring and Neurointerventional Management of Idiopathic Intracranial Hypertension
Idiopathic intracranial hypertension (IIH) is characterized by isolated rise in intracranial pressure (ICP) leading to chronic, debilitating headaches, tinnitus, and vision loss.
Matthew Lang +4 more
doaj +1 more source
Role of Electrophysiologal Studies for Detection of Simulation and Aggravation in Ophthalmology
To present the importance of the electrophysiological studies for detection of malingering and aggravation in ophthalmology.
Mermeklieva E.
doaj +1 more source
Testing patients with primary geographic atrophy (GA) requires a multimodal approach and identification of functional biomarkers characterizing retinal structural remodeling.Purpose: to identify the changes in the functional activity of the retinal cone ...
N. V. Neroeva +6 more
doaj +1 more source
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. [PDF]
PurposeThis study was undertaken to identify causal mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous families.MethodsLarge consanguineous families were ascertained from the Punjab province of Pakistan.
Akram, Javed +11 more
core +5 more sources
Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy. [PDF]
Myotonic dystrophy type I (DM1) exhibits distinctive disease specific phenotypes and the accelerated onset of a spectrum of age-associated pathologies.
Abdallah, Walid F +9 more
core +1 more source
Retinal Functional and Structural Changes in the 5xFAD Mouse Model of Alzheimer’s Disease
Alzheimer’s disease is characterized by the aberrant deposition of protein in the brain and is the leading cause of dementia worldwide. Increasingly, there have been reports of the presence of these protein hallmarks in the retina.
Jeremiah K. H. Lim +8 more
doaj +1 more source
Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish [PDF]
The authors would like to thank the Royal Society of London, the National Eye Research Centre, the Visual Research Trust, Fight for Sight, the W.H. Ross Foundation, the Rosetrees Trust, and the Glasgow Children’s Hospital Charity for supporting this work.
A Eblimit +54 more
core +4 more sources
Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa. [PDF]
To delineate the genetic determinants associated with retinitis pigmentosa (RP), a hereditary retinal disorder, we recruited four large families manifesting cardinal symptoms of RP. We localized these families to regions on the human genome harboring the
Akram, Javed +9 more
core +2 more sources

