Showing papers on "Optic Disk Drusen published in 2015"

The cost-effectiveness of different strategies to evaluate optic disk drusen in children.

Abstract: To the Editor: Leon and colleagues reported on the costeffectiveness of performing ultrasonography prior to neuroimaging in patients with optic disk drusen (ODD), with an overall reduction in the number of other investigations undertaken.However, it is important to bear inmind that drusen and raised intracranial pressure can coexist and that a diagnosis of drusen does not preclude the need for investigations for papilledema. ODD have a prevalence of 0.3% to 2.4%, with bilateral occurrence in 75% of cases. Drusen have been observed in children 3.6 to 19.5 years of age, with a mean age of 12.1 years at first detection. Although detection of ODD with ultrasound B-scan is well established, the detection of true papilledema is also possible, by measuring optic nerve sheath diameter, with a sensitivity of 90% to detect papilledema and a specificity of 79% to detect pseudopapilledema in adult patients. To determine the prevalence of ODD and true papilledema in children referred for apparent optic nerve head swelling we retrospectively reviewed the medical records of children #16 years of age presenting to Moorfields Eye Hospital NHS Foundation Trust, London, over a 2-year period (2008-2009) with optic disk swelling and in whom ODD had been demonstrated on ultrasonography (performed by a single experienced ultrasonographer [MR]). In 22 of 39 children an isolated diagnosis of ODD was established, based on clinical examination and, where indicated, ancillary tests, including neuroimaging (CT or MRI) in 3 patients and visual electrophysiology testing in one. However, 17 patients had other conditions in addition to ODD. Importantly, 4 patients (10%) had true papilledema, 3 had papilledema secondary to idiopathic intracranial hypertension, and one due to an intracerebral tumor. The remaining 13 patients had other ocular conditions unrelated to intracranial pressure, such as high hypermetropia and anisometropic amblyopia. Although 21 of 39 patients (53.8%) had only ultrasonography as a diagnostic test, the clinical course and duration of follow-up supported the diagnosis and confirmed other pathology was not present. Our findings support and supplement those of Leon and colleagues. In addition, we found the prevalence of coexisting ODD and raised intracranial pressure in children to be 10%. It is important to use ultrasonography not only to detect drusen but also to measure optic nerve sheath diameter. B-mode imaging can be used to image the anterior half of the optic nerve. However, the lateral resolution on all B-scan systems is poor compared to the axial resolution. Therefore, to accurately measure optic nerve diameter requires a deviation of gaze to present the optic nerve more perpendicularly to the incoming ultrasonic pulses.

Efficacy of topical dorzolamide therapy for cystoid macular edema in a patient with mfrp-related nanophthalmos–retinitis pigmentosa–foveoschisis–optic disk drusen syndrome

Abstract: Purpose: Mutations in the MFRP (membrane-type frizzled-related protein) gene leads to an entity characterized by retinitis pigmentosa, nanophthalmos, optic disk drusen, and macular changes, originally described as foveoschisis. Despite the association of MFRP gene mutation and increase in macular thickness, no treatment modality has been described for cystoid macular edema related to this particular entity so far. Methods: In this case report, a 52-year-old woman presented with nanophthalmos, optic disk drusen, retinitis pigmentosa, and increase in macular thickness. Genetic analysis revealed an MFRP gene mutation. The patient was treated with topical carbonic anhydrase inhibitors. Results: A progressive decrease in macular thickness and cystic changes was observed during the 2-month course of topical carbonic anhydrase inhibitor treatment, and best-corrected visual acuity improved from 20/100 to 20/50. Macular thickness remained stable after 6 months of follow-up. Conclusion: Cystoid macular edema is part of the macular changes noted in the MFRP mutation-related nanophthalmos–retinitis pigmentosa–foveoschisis–optic disk drusen, syndrome. Taking into account that resolution of cystoid macular edema in patients with retinitis pigmentosa may delay an irreversible decrease in visual acuity, treatment should be considered when cystic changes are suspected. Topical carbonic anhydrase inhibitor was effective in decreasing macular thickness and cystic changes in the patient reported.

Case of rapidly progressing buried optic nerve head drusen.

Abstract: A, Normal-looking fundus (F/9). B, Elevated optic disc with blurred margins, 3 years later. The hyperreflective subretinal mass (arrowhead) on spectral-domain optical coherence tomography (C) and B-scan (D) is consistent with buried optic nerve head drusen. This implies a relatively rapid progression. The small optic disc, a predisposition of optic nerve head drusen, is not present. JAMA Ophthalmol. 2015;133(2):e143467. doi:10.1001/jamaophthalmol.2014.3467

Optic Nerve Head Drusen Mimicking Optic Nerve Tumor

Abstract: Dear Editor, Optic nerve head drusen (ONHD) are laminated hyaline bodies within the optic nerve head. Spectral-domain optical coherence tomography (SD-OCT) is a noninvasive optical imaging technique that provides high-resolution cross-sectional images of the retina, optic nerve head and retinal nerve fiber layer thickness. This technique thus offers several advantages in the diagnosis of ONHD through the direct visualization of ONHD and the analyses of retinal nerve fiber layer profiles [1,2,3]. Visual impairment due to ONHD is rare, thus its differential diagnosis from other serious diseases is very important. We found ONHD in a patient referred with diagnosis of optic nerve tumor. A 45-year-old woman was referred for the evaluation of an optic nerve tumor found during routine visual acuity testing. Fundus examination showed yellowish amorphous material around the right optic disc (Fig. 1A). Fluorescein angiography showed hyperfluorescent staining around the optic disc (Fig. 1B). SD-OCT showed hyper-reflective retinal masses with irregular internal reflectance and posterior shadowing (Fig. 1C), compatible with ONHD. Fig. 1 (A) Fundus photograph shows yellowish amorphous material around the optic disc. (B) Fluorescein angiography shows hyperfluorescent staining around the optic disc. (C) Spectral-domain optical coherence tomographic scan (Spectralis OCT; Heidelberg engineering, ... Differential diagnosis of yellowish amorphous material around the optic disc may include Leber's miliary aneurysm, Coats' disease, retinal cavernous hemangioma or ONHD [4]. Patients with Leber's miliary aneurysm and Coats' disease are typically young men [4]. Leber's miliary aneurysm, Coats' disease or retinal cavernous hemangioma show dilated capillaries and telangiectasia, most commonly located in the mid-periphery of superotemporal quadrants of the retina [4]. These findings are contrary to those in our patient, a middle-aged woman who presented with nasally-located peripapillary masses. In addition, fluorescein angiography tends to reveal leakage in patients with Leber's miliary aneurysm, Coats' disease or retinal cavernous hemangioma [4], in contrast to the staining findings of our patient. Ultrasonography is considered the gold standard method for the diagnosis of ONHD; however, it definitely has worse resolution than SD-OCT. SD-OCT began a new era in the diagnosis of ONHD [1,2]. An association between older age and visible ONHD has been determined [3]. In agreement with this finding, the present patient was 45 years of age. ONHD can be complicated by hemorrhage [5] but does not usually require treatment. In conclusion, ONHD should be considered in the presence of peripapillary masses, and SD-OCT can be helpful for such a diagnosis. Recognition of peripapillary masses as a symptom of ONHD will reduce the occurrence of unnecessary treatment.