Showing papers on "Optic Disk Drusen published in 2011"

Association of Variants in the LIPC and ABCA1 Genes with Intermediate and Large Drusen and Advanced Age-Related Macular Degeneration

Abstract: Purpose. Intermediate and large drusen usually precede advanced age-related macular degeneration (AMD). There is little information about which genes influence drusen accumulation. Discovery of genetic variants associated with drusen may lead to prevention and treatments of AMD in its early stages.

Performance of automated drusen detection by polarization-sensitive optical coherence tomography.

Abstract: PURPOSE: To estimate the potential of polarization-sensitive optical coherence tomography (PS-OCT) for quantitative assessment of drusen in patients with early age-related macular degeneration (AMD). METHODS: Fifteen eyes from 13 patients presenting drusen consistent with Age-Related Eye Disease Study classifications (grades 2 and 3) were examined ophthalmoscopically, followed by fundus photography, autofluorescence imaging, and three-dimensional scanning using a PS-OCT. For the automated evaluation of drusen location, area, and volume, a novel segmentation algorithm was developed based on the polarization scrambling characteristics of the retinal pigment epithelium (RPE) and applied to each complete data set. Subsequently, the drusen in each individual B-scan were identified by two independent expert graders. Concordance between manual and automated segmentation results was analyzed. Errors in the automated segmentation performance were classified as nonsignificant, moderate, or severe. RESULTS. In all, 2355 individual drusen, with a mean of 157 drusen per eye, were analyzed. Of drusen seen in the individual B-scans, 91.4% were detected manually by both expert graders. The automated segmentation algorithm identified 96.5% of all drusen without significant error. The mean difference in manual and automated drusen area (mean, 4.65 mm(2)) was 0.150. The number of detected drusen was significantly higher with automated than that with manual segmentation. PS-OCT segmentation was generally superior to fundus photography (P < 0.001). Particularly in nondetected drusen, a large variability in drusen morphology was noted. CONCLUSIONS: Automated drusen detection based on PS-OCT technology allows a fast and accurate determination of drusen location, number, and total area.

Bilateral optic nerve drusen and gliomas in Klippel-Trenaunay syndrome

Abstract: Klippel-Trenaunay syndrome (KTS) consists of a vascular nevus involving an extremity, varicosities of that extremity, and hypertrophy of bone and soft tissue. When arteriovenous malformation is also present, it is called Klippel-Trenaunay-Weber syndrome (KTWS). Ophthalmic features of these syndromes include vascular anomalies of the orbit, iris, retina, choroid, and optic nerve. We report a case of a 16-year-old girl with KTS who was found to have bilateral optic nerve and chiasmal gliomas, optic disk drusen, and acquired myelination of the retinal nerve fiber layer. These findings have not been previously reported to be associated with KTS or KTWS.

Adams-Oliver syndrome associated with bilateral anterior polar cataracts and optic disk drusen.

Abstract: Adams-Oliver syndrome (AOS) (MIM 100300) was first described in 1945 as a condition of terminal transverse limb defects and aplasia cutis congenita. Since then, its clinical features have been found to be highly variable and include cardiac defects, abdominal wall defects, vascular malformations, brain abnormalities, and ocular anomalies. We report the case of a 3-year-old girl with AOS who was also found to have bilateral anterior polar cataracts and pseudopapilledema secondary to optic disk drusen. To the best of our knowledge, this is the first case of bilateral anterior polar cataracts and pseudopapilledema secondary to optic disk drusen to be reported in association with the AOS.

Unsuccessful surgical excision of optic nerve drusen

Abstract: To report the case of failed surgical excision of optic nerve drusen (OND). Case report. A 53-year-old woman presented with bilateral OND leading to progressive field defects and LE light perception and RE 20/25 vision. A vitrectomy was performed on the legally-blind left eye to test the resectability of OND. The removal of superficial OND failed because the singular-appearing superficial OND presented as one large mass with multiple excrescences on its surface. Retinal vessels passed through it, which made an excision impossible. OND cannot always be removed surgically, due to their variable consistency and hardness.

Development of optic disc drusen in familial pseudopapilloedema: a paediatric case series.

Abstract: Sir, Optic disc swelling in a child, with no other features suggestive of raised intracranial pressure is a challenging clinical scenario. These children frequently undergo invasive investigations, such as neuroimaging and lumbar puncture, even though the clinical suspicion of serious pathology is low. In this study, we report a new clinical presentation of benign optic disc swelling in five siblings of two families, where optic disc drusen were not present at first presentation, but developed many months later as shown on serial B-scan ultrasonography. We have termed this unusual presentation ‘familial pseudopapilloedema'. Five children (two siblings from one family and three siblings from another family) underwent examination and B-scan ultrasonography at first presentation and at all subsequent examinations. Age range at first presentation was 18 months to 12 years with a mean of 6.5 years. The male to female ratio was 4 : 1. All five children had clinically apparent optic disc swelling without other ophthalmoscopic features of papilloedema (retinal nerve fibre layer swelling, surrounding disc haemorrhages, cotton wool spots, hyperemia, venous congestion, Patton's lines, or exudates1). None had any symptoms suggestive of raised intracranial pressure, other neurological disease, or systemic upset (Table 1). Table 1 Summary table showing each of the five children's age, reason for presentation, vision, refraction, and investigations Serial B-scan ultrasonography showed no drusen at the first visit. However, all children developed small linear drusen at the optic disc over time (Figure 1). The mean time for development of drusen detectable on B-scan was 2.7 years. At no point was there optic nerve sheath dilation on B-scan. In two children, CT scans were conducted and reported as normal. A CT scan was avoided in three children because of the absence of optic nerve sheath swelling on sonography, the absence of symptoms of raised intracranial pressure and normal visual function.2, 3 Figure 1 B-scan of small linear disc drusen (arrow) in one of the subjects.