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488 Possible Causes for Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium, Mutation in the TTLL5 Gene, Pigment Clumping

  • Cone Rod Dystrophy
  • Goldmann-Favre Syndrome

    […] in the mid-peripheral fundus with little or no evidence of bone spicule formation. 4 This pattern of pigmentation occurs in retinitis pigmentosa (RP) with preserved para-arteriolar[bjo.bmj.com] […] nummular pigment clumping and atrophy at level of RPE (Fig. 1e) 18 M 32 OD: 6/9 ND Constricted visual fields Left macular cysts OS: 6/9 Mid-peripheral nummular pigment clumping[iovs.arvojournals.org] Key features include “bone-spiculepigment clumping, thinning and atrophy of the retinal pigment epithelium in the mid- and far-peripheral retina, relative preservation of[healio.com]

    Missing: Mutation in the TTLL5 Gene
  • Retinal Pigmentary Dystrophy

    […] dystrophy disorder characterized by spots of black bone-spicule pigmentation of the retinal pigment epithelium.[icd10data.com] Top: Color fundus photos demonstrate pigment clumping OU, ERM OD, lamellar hole and faint ERM OS. Bottom: Images have been magnified to show macular pigment clumping.[webeye.ophth.uiowa.edu] The retinal findings consist of bone corpuscle pigmentation, coarse pigment clumps and fine pigmentary changes along the retinal veins (Figure 2).[eyewiki.org]

    Missing: Mutation in the TTLL5 Gene
  • Peripheral Vasoproliferative Retinopathy

    The most characteristic ophthalmoscopic findings are narrowing of the retinal arterioles, mottling of the retinal pigment epithelium, and peripheral retinal pigment clumping[oculist.net] Figure 10-19: Retinitis pigmentosa with arteriolar narrowing and peripheral retinal pigment clumping.[oculist.net] , referred to as "bone-spicule formation" (Figure 10-19).[oculist.net]

    Missing: Mutation in the TTLL5 Gene
  • Pigmented Paravenous Retinochoroidal Atrophy

    A patient had bilateral macular coloboma with aggregations of pigment clumps located perivascularly, predominantly paravenously, and in other parts of the retina.[ncbi.nlm.nih.gov] Fluorescein angiography showed hyperfluorescence due to the pigment epithelial atrophy together with hypofluorescence corresponding to bone spicule pigment clumping.[ncbi.nlm.nih.gov] Abstract A patient had bilateral macular coloboma with aggregations of pigment clumps located perivascularly, predominantly paravenously, and in other parts of the retina.[bjo.bmj.com]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Leber Congenital Amaurosis 16

    Bujakowska et al[ 81 ] reported two patterns of fundus pigmentation in their cohort: a typical bone spicule-shaped pigment migration within the peripheral retinal, and clumped[wjgnet.com] (A) Right fundus, (B) left fundus Figure 3 Subject IV4 aged 25: atrophy at macula with pigment rim and clumps.[bjo.bmj.com] Preservation of the para-arteriolar retinal pigment epithelium, retinal telangiectasia with exudation (Coat’s-like vasculopathy), and macular lesions as coloboma-like lesions[wjgnet.com]

    Missing: Mutation in the TTLL5 Gene
  • Coloboma of Choroid and Retina

    […] vessels, rare mid-peripheral bone spicules and several pigment clumps, located only in the macular atrophic area.[nature.com] Huang Published in The British journal of ophthalmology 1992 DOI: 10.1136/bjo.76.4.250 A patient had bilateral macular coloboma with aggregations of pigment clumps located[semanticscholar.org] Fundoscopy revealed an oval sharply‐ demarcated defect at the macula with bare sclera at its base and pigment clumping, mainly in the right eye, resembling macular coloboma[onlinelibrary.wiley.com]

    Missing: Mutation in the TTLL5 Gene
  • Leber Congenital Amaurosis

    Bujakowska et al[ 81 ] reported two patterns of fundus pigmentation in their cohort: a typical bone spicule-shaped pigment migration within the peripheral retinal, and clumped[wjgnet.com] The two girls both presented with severe visual impairment, nystagmus, central atrophy of the pigment epithelium, and pigment clumping in the periphery before the age of 6[ncbi.nlm.nih.gov] Preservation of the para-arteriolar retinal pigment epithelium, retinal telangiectasia with exudation (Coat’s-like vasculopathy), and macular lesions as coloboma-like lesions[wjgnet.com]

    Missing: Mutation in the TTLL5 Gene
  • Retinitis Pigmentosa 9

    […] dystrophy disorder characterized by spots of black bone-spicule pigmentation of the retinal pigment epithelium.[icd10data.com] The pigment clumps up into those pigmented bone spicules, the blood vessels are narrower and more tortuous and the smooth yellow/orange/red color of the retina is much more[prometheus.med.utah.edu] The retinal pigment epithelium is abnormal with both pigment clumping and bone-spicule formation.[disorders.eyes.arizona.edu]

    Missing: Mutation in the TTLL5 Gene
  • Retinal Dystrophy

    […] dystrophy disorder characterized by spots of black bone-spicule pigmentation of the retinal pigment epithelium.[icd10data.com] Our study uncovers the pathogenic mechanism whereby absence of RPGR(ORF15) glutamylation leads to retinal pathology in patients with TTLL5 gene mutations and connects these[ncbi.nlm.nih.gov] The changes are most commonly pigment clumping in the retina, thinning of the blood vessels and/or paleness of the optic nerve [figure 1].[aapos.org]

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