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139 Possible Causes for Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium, Mutation in the TTLL5 Gene, Waxy Optic Disc

  • Cone Rod Dystrophy
  • Retinal Pigmentary Dystrophy

    […] dystrophy disorder characterized by spots of black bone-spicule pigmentation of the retinal pigment epithelium.[icd10data.com] Attenuated retinal vessels, waxy optic disc pallor, cystoid macular edema and fine pigmented vitreous cells may be found.[atlasrleye.com] In advanced stages, signs include attenuated retinal vessels, intraretinal pigment, and waxy pallor of the optic discs. Figure 2.[intechopen.com]

    Missing: Mutation in the TTLL5 Gene
  • Retinitis Pigmentosa 32

    peripheral bone spicules in both eyes.[ncbi.nlm.nih.gov] Diagnosis RETINITIS PIGMENTOSA (RP) •History •Bone-spicule pigment •Waxy pale optic disc 11.[slideshare.net] […] pallor of the optic disc.[webeye.ophth.uiowa.edu]

    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] She had a visual acuity of right eye 0.5/200 and left eye 5/200, waxy optic discs, attenuated arterioles, mottled retinal pigment epithelium (RPE), and scattered bone spicule[bjo.bmj.com] It is manifested with decreased vision in low light or in the night, followed by decreased peripheral vision, and, eventual decreased central vision.[icd10data.com]

    Missing: Mutation in the TTLL5 Gene
  • 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] […] pallor of the optic disc and attenuation of the retinal vessels.[healio.com] […] retinal pigment epithelium (PPRPE), 5 enhanced S-cone syndrome (ESCS), and GFS, and these disorders share common mutations in the NR2E3 gene, which is involved in retinal[bjo.bmj.com]

    Missing: 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] optic disc pallor.[journals.plos.org] 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
  • Y-Linked Retinitis pigmentosa

    A fundus examination showed the appearance of RP with pale discs, arteriolar constriction, retinal pigmented epithelium atrophy and sporadic bone spicule pigmentation affecting[bioscirep.org] Fundus examination usually shows bone spicula pigmentation, attenuation of blood vessels in the retina, and waxy pallor of the optic disc.[jmg.bmj.com] (A) Attenuation of retinal arterioles, bone-spicule pigmentation in the midperiphery, atrophy of the retinal pigment epithelium, waxy-pale discs, and enlarged optic cups in[journals.plos.org]

    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] optic disc, arteriolar attenuation and further decline of the ERG, as found in retinitis pigmentosa ( 2, 3 ).[scielo.br]

  • Coloboma of Choroid and Retina

    […] vessels, rare mid-peripheral bone spicules and several pigment clumps, located only in the macular atrophic area.[nature.com] […] pallor of the optic disc, very restricted retinal vessels and several mid-peripheral pigmented bone spicules (RP-type tapeto-retinal dystrophy).[nature.com] FA revealed widespread retinal pigment epithelium (RPE) depigmentation, and detailed the atrophic features of both posterior poles ( Figure 2c, d ).[nature.com]

    Missing: Mutation in the TTLL5 Gene
  • Lens Coloboma

    […] vessels, rare mid-peripheral bone spicules and several pigment clumps, located only in the macular atrophic area.[nature.com] […] pallor of the optic disc, very restricted retinal vessels and several mid-peripheral pigmented bone spicules (RP-type tapeto-retinal dystrophy).[nature.com] FA revealed widespread retinal pigment epithelium (RPE) depigmentation, and detailed the atrophic features of both posterior poles ( Figure 2c, d ).[nature.com]

    Missing: Mutation in the TTLL5 Gene