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259 Possible Causes for Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium, Foveal Atrophy, Mutation in the TTLL5 Gene

  • Cone Rod Dystrophy
  • Retinal Telangiectasia

    Fluorescein angiography found no active leakage, and optical coherence tomography found significant foveal atrophy.[ncbi.nlm.nih.gov] Severity 3: Moderate to marked foveal hyperautofluorescence with angiographic abnormalities and foveal atrophy documented on optical coherence tomography.[retinalphysician.com] Nonproliferative perifoveal telangiectasia refers to exudative telangiectasia and foveal atrophy.[scielo.br]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Leber Congenital Amaurosis Type 9

    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] atrophy, nummular pigmentations and moderate vascular attenuation. c OCT showing decreased foveal thickness Fig. 4 Fundus photo of the 2 year old male sibling showing foveal[bmcresnotes.biomedcentral.com] […] reflex; MA: Macular atrophy.[journals.plos.org]

    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] Additional features include an optically empty liquefied vitreous, progressive foveal or peripheral retinoschisis, macular cysts, chorioretinal atrophy and pigmentary retinopathy[djo.eg.net] 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] These patients exhibit foveal atrophy that may be misdiagnosed as Stargardt disease, but ERG studies of these patients show the photopic response is severely abnormal, the[entokey.com] Retikuläre Dystrophie (Sjögren) Retinitis pigmentosa, sektorförmig Retinitis pigmentosa mit erhaltenem pararteriolarem Pigmentepithel Retinoschisis, familiäre foveale Spät[drdiag.hu]

    Missing: Mutation in the TTLL5 Gene
  • Retinitis Pigmentosa 32

    peripheral bone spicules in both eyes.[ncbi.nlm.nih.gov] Figure 1 RP with foveal atrophy. SD-OCT shows exaggerated foveal depression, diffuse foveal thinning, and disruption of IS-OS junction.[djo.eg.net] Fundus examination revealed waxy pallor of the optic disks, attenuated retinal arterioles, mild paramacular pigmentary changes at the retinal pigment epithelium level, and[ncbi.nlm.nih.gov]

    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] atrophy, nummular pigmentations and moderate vascular attenuation. c OCT showing decreased foveal thickness Fig. 4 Fundus photo of the 2 year old male sibling showing foveal[bmcresnotes.biomedcentral.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
  • 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] […] stippling and atrophy, leading to a marked atrophicmaculopathy.[jamanetwork.com] atrophy to macular coloboma.[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 showed bilateral, round, foveal atrophy with narrowed retinal vessels and atrophic optic discs ( Figure 2I ).[molvis.org] […] the peripheral retina ( Figure 2 A).[bioscirep.org]

    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] An ocular coherence tomography showed normal foveal contour and thickness bilaterally.[cureus.com] Dominant macular dystrophy, Best type, Dominant macular dystrophy, North Carolina-like with progressive, Recessive macular dystrophy, juvenile with hypotrichosis, Recessive foveal[google.com]

    Missing: Mutation in the TTLL5 Gene