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55 Possible Causes for Peripheral Retinal Pigment Epithelium Atrophy, Scant Bone Spicule Pigment

  • Leber Congenital Amaurosis Typ 14

    David W. Stockton Richard Alan Lewis Emad B. Abboud A. Al-Rajhi Monzer Jabak Kent L. Anderson J. R. Lupski Original Investigation First Online: 17 February 2014 Abstract Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous autosomal recessive retinal dystrophy and the most common genetic[…][link.springer.com]

  • Hyper IgD Syndrome

    EULAR 2014: Scientific Abstracts Abstracts accepted for publication. Other orphan diseases AB0918 Efficacy and Safety of Treatment of Children with Traps and Hids with IL1 Blocker (CANAKINUMAB) A. Kozlova, E. Mamzerova, A. Maschan, A. Shcherbina Immunology, Federal Research and Clinical Center of Pediatric[…][doi.org]

    Missing: Scant Bone Spicule Pigment
  • Vitreoretinochoroidopathy

    Ophthalmic Genet. 2016;37(1):81-5. doi: 10.3109/13816810.2014.889171. Epub 2014 Feb 24. Abstract Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare inherited ocular disease associated with distinct mutations in the BEST1 gene. Typically, patients have only mild visual impairment, and rarely do patients have[…][ncbi.nlm.nih.gov]

    Missing: Scant Bone Spicule Pigment
  • Retinitis Pigmentosa

    pigment epithelium Loss of rods causes early night blindness and restricted visual fields (bilateral loss of peripheral vision) Loss of cones affects central visual acuity[pathologyoutlines.com] Retinal atrophy causes constriction of retinal vessels, optic nerve head atrophy and accumulation of retinal pigment around blood vessels Microscopic (histologic) description[pathologyoutlines.com] […] inflammatory Common (incidence of 1/3600) with variable inheritance or as part of Refsum disease Usually causes loss of rods and cones to apoptosis and focal proliferation of retinal[pathologyoutlines.com]

    Missing: Scant Bone Spicule Pigment
  • Myopic Macular Degeneration

    PM is characterized by excessive axial length (³26 mm) with secondary degenerative changes of the sclera, choroid, Bruch's membrane, retinal pigment epithelium (RPE), and[retina3000.it] These changes are concentrated in the mid-peripheral fundus and in the macular area.[retina3000.it] The most common posterior pole changes include posterior staphyloma, optic nerve crescents, chorioretinal atrophy, lacquer cracks, and the development of choroidal neovascularization[retina3000.it]

    Missing: Scant Bone Spicule Pigment
  • Sarcoidosis

    pigment epithelium.[ncbi.nlm.nih.gov] Optic disc and peripapillary atrophy with abnormal vessels (optociliary shunts) of the optic nerve head in a patient with juvenile onset sarcoidosis.[ncbi.nlm.nih.gov] Peripheral area of capillary non-perfusion with impeding development of the neovascular membrane in ocular sarcoidosis. Late phase fluorescein angiogram.[ncbi.nlm.nih.gov]

    Missing: Scant Bone Spicule Pigment
  • Vitreous Hemorrhage

    Retinal pigment epithelium atrophy and pigment clumping may occur.[disorders.eyes.arizona.edu] Peripheral schisis is evident in about 50% of patients with large bullous cavities that may resolve spontaneously leaving a pigmented demarcation line.[disorders.eyes.arizona.edu] Other retinal findings are white retinal flecks, exudative retinopathy with retinal detachment, perivascular sheathing and dendritiform vessels in the periphery.[disorders.eyes.arizona.edu]

    Missing: Scant Bone Spicule Pigment
  • Wagner Disease

    Montage color fundus photos of the right (A) and left (B) eyes show vascular attenuation, perivascular and peripheral retinal pigment epithelium atrophy, and pigment clumping[healio.com] Peripheral retinal pigment epithelium degeneration in equatorial location may be present.[nature.com] Fundus autofluorescence of the right (C) and left eyes (D) show perivascular and peripheral hypoautofluorescence and peripapillary and macular hyperautofluorescence.[healio.com]

    Missing: Scant Bone Spicule Pigment
  • Pseudoxanthoma Elasticum

    A peripheral examination showed atrophy of the retinal pigment epithelium outside the arcade with pigment migration at the level of the retina, a sign of photoreceptor loss[iovs.arvojournals.org] […] coherence tomography: note the presence of crystals in the inner retinal layers. ( f ) Case 2: healthy optic discs, narrow blood vessels, angioid streaks, and bilateral pigmented[iovs.arvojournals.org]

    Missing: Scant Bone Spicule Pigment
  • X-Linked Mixed Deafness with Perilymphatic Gusher

    The fundi showed mottling of the retinal pigment epithelium, discrete peripheral RPE clumping, and small areas of chorioretinal atrophy (some marked with arrows in A, B, more[iovs.arvojournals.org]

    Missing: Scant Bone Spicule Pigment

Further symptoms