- 标题
- 摘要
- 关键词
- 实验方案
- 产品
-
Characterization of Abnormal Optic Nerve Head Morphology in Albinism Using Optical Coherence Tomography
摘要： PURPOSE. To characterize abnormalities in three-dimensional optic nerve head (ONH) morphology in people with albinism (PWA) using spectral-domain optical coherence tomography (SD-OCT) and to determine whether ONH abnormalities relate to other retinal and clinical abnormalities. METHODS. Spectral-domain OCT was used to obtain three-dimensional images from 56 PWA and 60 age- and sex-matched control subjects. B-scans were corrected for nystagmus-associated motion artefacts. Disc, cup, and rim ONH dimensions and peripapillary retinal nerve fiber layer (ppRNFL) thickness were calculated using Copernicus and ImageJ software. RESULTS. Median disc areas were similar in PWA (median ? 1.65 mm2) and controls (1.71 mm2, P ? 0.128), although discs were significantly elongated horizontally in PWA (P < 0.001). In contrast, median optic cup area in PWA (0.088 mm2) was 23.7% of that in controls (0.373 mm2, P < 0.001), with 39.4% of eyes in PWA not demonstrating a measurable optic cup. This led to significantly smaller cup to disc ratios in PWA (P < 0.001). Median rim volume in PWA (0.273 mm3) was 136.6% of that in controls (0.200 mm3). The ppRNFL was significantly thinner in PWA compared with controls (P < 0.001), especially in the temporal quadrant. In PWA, ppRNFL thickness was correlated to ganglion cell thickness at the central fovea (P ? 0.007). Several ONH abnormalities, such as cup to disc ratio, were related to higher refractive errors in PWA. CONCLUSIONS. In PWA, ocular maldevelopment is not just limited to the retina but also involves the ONH. Reduced ppRNFL thickness is consistent with previous reports of reduced ganglion cell numbers in PWA. The thicker rim volumes may be a result of incomplete maturation of the ONH.
关键词： albinism,optic nerve head,optical coherence tomography
更新于2025-09-23 15:23:52
-
Ultra-Widefield Laser Scanning Retina Imaging in Oculocutaneous Albinism
摘要： A 5-year-old girl with abnormalities of the skin and hair that were consistent with albinism had nystagmus and photophobia. Her skin color varied from yellow to milky white and hypopigmentation was appreciated by comparison with other family members. She received ultra-widefield laser scanning imaging (Daytona P200T; Optos) to observe the pigment of the fundus to make a definitive diagnosis of oculocutaneous albinism. The vortex veins and a hypoplasia of the macula were noted (Figure). Oculocutaneous albinism is characterized by photophobia, nystagmus, fundus hypopigmentation, and the absence of foveal pit.
关键词： Ultra-Widefield Laser Scanning Retina Imaging,Oculocutaneous Albinism,Ophthalmic Images
更新于2025-09-19 17:13:59
-
Aberrant visual pathway development in albinism: From retina to cortex
摘要： Albinism refers to a group of genetic abnormalities in melanogenesis that are associated neuronal misrouting through the optic chiasm. We perform quantitative assessment of visual pathway structure and function in 23 persons with albinism (PWA) and 20 matched controls using optical coherence tomography (OCT), volumetric magnetic resonance imaging (MRI), diffusion tensor imaging and visual evoked potentials (VEP). PWA had a higher streamline decussation index (percentage of total tractography streamlines decussating at the chiasm) compared with controls (Z = ?2.24, p = .025), and streamline decussation index correlated weakly with inter-hemispheric asymmetry measured using VEP (r = .484, p = .042). For PWA, a significant correlation was found between foveal development index and total number of streamlines (r = .662, p < .001). Significant positive correlations were found between peri-papillary retinal nerve fibre layer thickness and optic nerve (r = .642, p < .001) and tract (r = .663, p < .001) width. Occipital pole cortical thickness was 6.88% higher (Z = ?4.10, p < .001) in PWA and was related to anterior visual pathway structures including foveal retinal pigment epithelium complex thickness (r = ?.579, p = .005), optic disc (r = .478, p = .021) and rim areas (r = .597, p = .003). We were unable to demonstrate a significant relationship between OCT-derived foveal or optic nerve measures and MRI-derived chiasm size or streamline decussation index. Our novel tractographic demonstration of altered chiasmatic decussation in PWA corresponds to VEP measured cortical asymmetry and is consistent with chiasmatic misrouting in albinism. We also demonstrate a significant relationship between retinal pigment epithelium and visual cortex thickness indicating that retinal pigmentation defects in albinism lead to downstream structural reorganisation of the visual cortex.
关键词： magnetic resonance imaging,visual pathway,diffusion tensor imaging,albinism,optical coherence tomography
更新于2025-09-10 09:29:36
-
Profile of albinism with low vision and improvement of visual acuity with the adaptation of optical and / or electronic resources
摘要： Objective:Determine the profile of albinism in Low Vision Department of Benjamin Constant Institute. Highlight the follow-up, the frequency of follow-up, and the visual improvement with the adaptation of optical and / or electronic resources . Methods: A retrospective study with data from 77 patients with ocular albinism aged 1- 53 years old attended at Benjamin Constant Institute between 2003 and 2014. Results: The most suitable optical feature is the telescope Galilleu 2.8x . All patients reported gain vision with the resources . Most patients experienced visual acuity with optical devices between 20/25 - 20/160 . Conclusion: Optical resources assisted in the improvement of visual function and quality of life of patients with ocular albinism.
关键词： Albinism, ocular,Nistagmus,Vision, low,Visual acuity
更新于2025-09-09 09:28:46