Showing papers on "Optic Disk Drusen published in 2017"

Drusen in patient-derived hiPSC-RPE models of macular dystrophies.

Abstract: Age-related macular degeneration (AMD) and related macular dystrophies (MDs) are a major cause of vision loss. However, the mechanisms underlying their progression remain ill-defined. This is partly due to the lack of disease models recapitulating the human pathology. Furthermore, in vivo studies have yielded limited understanding of the role of specific cell types in the eye vs. systemic influences (e.g., serum) on the disease pathology. Here, we use human induced pluripotent stem cell-retinal pigment epithelium (hiPSC-RPE) derived from patients with three dominant MDs, Sorsby's fundus dystrophy (SFD), Doyne honeycomb retinal dystrophy/malattia Leventinese (DHRD), and autosomal dominant radial drusen (ADRD), and demonstrate that dysfunction of RPE cells alone is sufficient for the initiation of sub-RPE lipoproteinaceous deposit (drusen) formation and extracellular matrix (ECM) alteration in these diseases. Consistent with clinical studies, sub-RPE basal deposits were present beneath both control (unaffected) and patient hiPSC-RPE cells. Importantly basal deposits in patient hiPSC-RPE cultures were more abundant and displayed a lipid- and protein-rich "drusen-like" composition. Furthermore, increased accumulation of COL4 was observed in ECM isolated from control vs. patient hiPSC-RPE cultures. Interestingly, RPE-specific up-regulation in the expression of several complement genes was also seen in patient hiPSC-RPE cultures of all three MDs (SFD, DHRD, and ADRD). Finally, although serum exposure was not necessary for drusen formation, COL4 accumulation in ECM, and complement pathway gene alteration, it impacted the composition of drusen-like deposits in patient hiPSC-RPE cultures. Together, the drusen model(s) of MDs described here provide fundamental insights into the unique biology of maculopathies affecting the RPE-ECM interface.

Quantitatively Measured Anatomic Location and Volume of Optic Disc Drusen: An Enhanced Depth Imaging Optical Coherence Tomography Study.

Abstract: Purpose Optic disc drusen (ODD) are found in up to 2.4% of the population and are known to cause visual field defects. The purpose of the current study was to investigate how quantitatively estimated volume and anatomic location of ODD influence optic nerve function. Methods Anatomic location, volume of ODD, and peripapillary retinal nerve fiber layer and macular ganglion cell layer thickness were assessed in 37 ODD patients using enhanced depth imaging optical coherence tomography. Volume of ODD was calculated by manual segmentation of ODD in 97 B-scans per eye. Anatomic characteristics were compared with optic nerve function using automated perimetric mean deviation (MD) and multifocal visual evoked potentials. Results Increased age (P = 0.015); larger ODD volume (P = 0.002); and more superficial anatomic ODD location (P = 0.007) were found in patients with ODD visible by ophthalmoscopy compared to patients with buried ODD. In a multivariate analysis, a worsening of MD was significantly associated with larger ODD volume (P < 0.0001). No association was found between MD and weighted anatomic location, age, and visibility by ophthalmoscopy. Decreased ganglion cell layer thickness was significantly associated with worse MD (P = 0.025) and had a higher effect on MD when compared to retinal nerve fiber layer thickness. Conclusions Large ODD volume is associated with optic nerve dysfunction. The worse visual field defects associated with visible ODD should only be ascribed to larger ODD volume and not to a more superficial anatomic ODD location.

The Effect of a Decrease in Intraocular Pressure on Optic Nerve Function in Patients with Optic Nerve Drusen.

Abstract: Purpose The aim of the study was to compare optic nerve function in eyes with brinzolamide-reduced intraocular pressure (IOP) and the fellow eyes of patients with optic disk drusen (ODD). Methods The study comprised 34 patients with bilateral ODD but no signs of any other ocular disease. The eyes with more advanced optic neuropathy were selected for treatment with an IOP-lowering drug, carbonic anhydrase inhibitor (brinzolamide); the fellow eyes served as the control. Static perimetry, pattern electroretinography (PERG), pattern visual-evoked potentials (PVEP), and retinal nerve fiber layer (RNFL) thickness were analyzed. The observation period was 12 months. Results The eyes with brinzolamide-reduced IOP exhibited a statistically significant decrease in the mean defect index of static visual field (p = 0.03), an increase in PERG N95 amplitude (from 2.94 to 4.41 µV; p = 0.0047), and RNFL thickness stabilization. A statistically significant decrease in RNFL thickness (from 83.21 to 79.85 µm; p = 0.0017) was found in the control eyes. Conclusions A decrease in IOP in eyes with ODD results in improvement of retinal ganglion cell function and delays the progression of optic neuropathy. PERG should be performed in patients with ODD as it is a sensitive test for monitoring optic neuropathy.

Bilateral disc drusen in a diabetic patient simulating diabetic papillopathy as a cause of disc edema

Abstract: Bilateral optic disc edema in a diabetic patient may be caused by diabetic papillopathy. We herein report on a patient with bilateral optic disc drusen simulating diabetic papillopathy. A 55-year-old patient with type 2 diabetes presented with decreased vision of 1-month. Diabetic papillopathy was initially considered as there was disc edema in both eyes with focal hemorrhages at the disc margin and mild visual loss. Ultrasound of the optic nerve head revealed optic disc drusen in both eyes and this was also confirmed by the control photograph. Optic nerve head drusen should be considered in the differential diagnosis of a diabetic patient presenting with disc edema.

Substantial Visual Field Loss Associated With Giant Optic Disc Drusen.

Abstract: We diagnosed a white woman in her early 60s with giant optic disc drusen causing extensive visual field defects bilaterally. Her bestcorrected visual acuity was 1.0 (approximate Snellen equivalent, 20/20) OU. Automated perimetric mean deviation was –19.5 dB in the right eye and –17.7 dB in the left eye. Optic disc drusen were defined as hyporeflective structures with a hyperreflective margin using optical coherence tomography (Figure, A). Optic disc drusen, inner limiting membrane, and Bruch membrane were segmented from the right optic nerve head using enhanced depth imaging optical coherence tomography scans and a specialized algorithm (Figure, B).1 The total optic disc drusen volume was 1.9 mm3, comprising 66% of the optic nerve head volume of 2.9 mm3. The patient’s visual field loss warranted suspension of her driver’s license. This case demonstrates that optic disc drusen, even without concomitant disease such as anterior ischemic optic neuropathy, can be associated with substantial visual field loss.