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189 Possible Causes for Bone Spicule Pigmentation, 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] pigmentations.[nature.com] In the remaining patients (Patients 5, 7, 8, 11, 14, 15, and 18) ranging in age from five to 39, RPE atrophy was more pronounced with bone spicule-like pigmentations.[molvis.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] Her fundus examination showed bilateral attenuated retinal vasculature and 360 bone-spicule pigmentation within the retina, compatible with the previous diagnosis of RP.[retinatoday.com] Fundal examination revealed bone spicule pigments and attenuated vessels. The Pro347Leu mutation was detected in three of her children, aged 33, 28, and 17.[bjo.bmj.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] The retinal picture resembles retinitis pigmentosa with ‘bone spiculepigment clumps, vascular attenuation, and pale optic nerve heads.[disorders.eyes.arizona.edu]

    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] Her fundus examination showed bilateral attenuated retinal vasculature and 360 bone-spicule pigmentation within the retina, compatible with the previous diagnosis of RP.[retinatoday.com] , referred to as "bone-spicule formation" (Figure 10-19).[oculist.net]

    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] The retina has a postequatorial bone spicule pattern of pigmentation with narrowing of arterial vessels.[disorders.eyes.arizona.edu] spicules Wax-like pallor of the optic nerve Atrophy of the retinal pigment epithelium Arteriolar attenuation Fundus Appearance in Advanced Retinitis Pigmentosa Severe central[decisionmakerplus.net]

    Missing: Mutation in the TTLL5 Gene
  • Retinitis Pigmentosa

    The two siblings had night blindness for a long time, and clinical examinations revealed diffuse retinal degeneration with bone spicule pigmentation, constriction of the visual[ncbi.nlm.nih.gov] SignsSigns In chronological order :In chronological order :  Arteriolar narrowingArteriolar narrowing  Peripheral bone-spicule pigmentsPeripheral bone-spicule pigments 23[slideshare.net] […] pigmentRetinal bone-spicule pigment  Arteriolar attenuationArteriolar attenuation  Waxy disc pallorWaxy disc pallor 19.[slideshare.net]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Pigmented Paravenous Retinochoroidal Atrophy

    A 68-year-old man with patchy paravenous zones of retinal degeneration with bone spicule pigmentation OU was diagnosed as having pigmented paravenous retinochoroidal atrophy[ncbi.nlm.nih.gov] Funduscopic examination revealed bone-spicule pigmentation and choroidal and retinal pigment epithelium atrophy along the vascular arcades, with macular involvement in right[ncbi.nlm.nih.gov] Pigmented paravenous retinochoroidal atrophy is an ocular disease characterized by outer retina and choroidal atrophy often with overlying intraretinal bone spicule pigment[ncbi.nlm.nih.gov]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium 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 reveals bone spicule pigment deposits, attenuated retinal vessels, retinal atrophy and waxy optic nerve pallor.[orpha.net] The ophthalmologist often sees bone spicule pigment deposits on retinal exam. Kinetic visual field testing is essential for the diagnosis.[globalgenes.org]

    Missing: Mutation in the TTLL5 Gene
  • Cone Rod Dystrophy Type 15
    Missing: Bone Spicule Pigmentation
  • Leber Congenital Amaurosis Type 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] Varying degrees of intraretinalpigment migration culminating in bone spicule-like pigment and gross pigmentclumps in the retinas were observed.[jamanetwork.com] Fundus with bone spicules pigmentation and variable degree of maculopathy.[wjgnet.com]

    Missing: Mutation in the TTLL5 Gene

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