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271 Possible Causes for Retinal Pigmentation, Retinopathy, Round Face

  • Mucopolysaccharidosis

    pigment epithelium.[] Defining this natural history is essential for a proper comparison with Hunter patients receiving systemic treatment, thus determining if it can or cannot improve retinal[] CONCLUSION: Our multimodal analysis reported here attempted to contribute to the knowledge of the natural history of GAG deposition in the eye, focusing on the retina and retinal[]

  • Macular Degeneration

    She presented with visual distortion in her right eye and was found to have a retinal pigment epithelial detachment (RPED) on optical coherence tomography (OCT).[] Polyps appears as round multiple heterogeneous hyperreflective structures. Figure 29. SS-OCT and en-face OCT of a patients with late AMD with geography atrophy.[] Best-corrected visual acuity testing measured with Early Treatment Diabetic Retinopathy Study charts and spectral domain optical coherence tomography scans were performed[]

  • Kearns Sayre Syndrome

    The three unrelated patients had progressive external ophthalmoplegia and pigmentary retinopathy bilaterally.[] The triad of progressive external ophthalmoplegia, atypical retinal pigmentation and cardiac conduction defects characterizes Kearns-Sayre syndrome (KSS), which is most often[] Her face was an unexpressed-rounded and greasy one with an incomplete palpebral ptosis bilaterally (Figure 1), the nails and teeth were normal She was very thin owing to generalized[]

  • Mucopolysaccharidosis 2

    Abnormal retinal pigmentation and papilloedema - leading to visual impairment. Type B - mild form This usually presents later and may not be noticed until adulthood.[] A pigmentary retinopathy with variable severity is often present. The disc may be elevated and appears swollen.[]

  • Purtscher's Retinopathy

    […] outer segments and the retinal pigment epithelium plus attenuation of the outer nuclear layer.[] Presentation on theme: "Grand Rounds Purtscher’s Retinopathy"— Presentation transcript: 1 Grand Rounds Purtscher’s Retinopathy Mark A. Ihnen, M.D.[] Putscher's retinopathy is a disease where part of the eye (retina) is damaged.[]

  • Adult-Onset Foveomacular Vitelliform Dystrophy

    […] stages, possibly 5th..cnv Egg yolk breaks down to leave a space choroidal thickness Retina16 some dursenoid PEDs, especially if unilateral, may represent old central serous retinopathy[] The purpose of the study was to report aperture of retinal pigment epithelium (RPE) as a late complication and an unreported finding during the natural course of adult-onset[] The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces.[]

  • Fleck Retina of Kandori

    […] fleck ret·i·na of Kan·dor·i ( kahn-dōr'ē ), [MIM*228990] an autosomal recessive disorder of the retinal pigment epithelium characterized by retinal flecks and night blindness[] face and brachydactyly.[] 185 Management of Diabetic Retinopathy 188 Retinal Artery Occlusion 193 Retinal Vein Occlusion 195 Cardiovascular Disease 200 Retinopathy of Prematurity 203 Other Retinal[]

  • Neuhauser Syndrome

    The clinical features of Refsum's disease include cerebellar ataxia and retinal dystrophy with pigment changes, bone-spicule formation, optic atrophy, and attenuated retinal[] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[] […] syndrome, recessive retinal dystrophy AHI1 Joubert syndrome AIPL1 Retinitis pigmentosa, Cone rod dystrophy, Leber congenital amaurosis ALMS1 Alström syndrome AMACR Pigmentary retinopathy[]

  • Best Disease

    retinal pigment epithelium and photoreceptors.[] The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces.[] PURPOSE: Canine multifocal retinopathy (cmr) is an autosomal recessive disorder of multiple dog breeds.[]

  • Zellweger Syndrome

    […] included high forehead, large fontanelle, shallow orbit ridges, micrognathia, upslanting palebral fissures, epicanthal folds, severe hypotonia, hyporeflexia, pigmentary retinopathy[] pigmentation, and 50% of control fibroblast dihydroxyacetone phosphate acyltransferase activity.[] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[]

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