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19 Possible Causes for Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium, Mutation in RP9 Gene Likely Not Pathogenic, 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] 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] […] right eye Retinitis pigmentosa Right pigmentary retinal dystrophy Right retinitis pigmentosa Right retinitis pigmentosa (eye condition) Clinical Information A rare inherited retinal[icd10data.com]

    Missing: Mutation in the TTLL5 Gene
  • Cone Rod Dystrophy
    Missing: Mutation in RP9 Gene Likely Not Pathogenic
  • 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] , referred to as "bone-spicule formation" (Figure 10-19).[oculist.net] The hallmark symptoms of retinitis pigmentosa are night blindness (nyctalopia) and gradually progressive peripheral visual field loss.[oculist.net]

    Missing: Mutation in RP9 Gene Likely Not Pathogenic Mutation in the TTLL5 Gene
  • Neuronal Ceroid Lipofuscinosis 4B

    Infantile and late-infantile retinal findings include fine retinal pigment epithelium pigment atrophy with no bone spicule changes and disk pallor.[journals.lww.com] Juvenile retinal findings include macular retinal pigment epithelium atrophy and pigment stippling ( 50%), epiretinal membrane (33%), bull’s eye maculopathy (25%), and peripheral[journals.lww.com] bone spicules (46%) and variable disk pallor.[journals.lww.com]

    Missing: Mutation in RP9 Gene Likely Not Pathogenic 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] 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] […] 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 RP9 Gene Likely Not Pathogenic 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] 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] […] right eye Retinitis pigmentosa Right pigmentary retinal dystrophy Right retinitis pigmentosa Right retinitis pigmentosa (eye condition) Clinical Information A rare inherited retinal[icd10data.com]

    Missing: Mutation in RP9 Gene Likely Not Pathogenic Mutation in the TTLL5 Gene
  • Ocular Toxoplasmosis

    Discussion The classically described fundus appearance of RP includes attenuated retinal vessels, mottling and granularity of the retinal pigment epithelium (RPE), bone spicule[egyptretinaj.com] The most common complaint of the patient is that of night blindness, followed by peripheral visual field loss. The patient had the typical features of RP.[egyptretinaj.com]

    Missing: Mutation in RP9 Gene Likely Not Pathogenic Mutation in the TTLL5 Gene
  • Retinitis Pigmentosa 32

    peripheral bone spicules in both eyes.[ncbi.nlm.nih.gov] 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] The inferiotemporal region of her retina showed bilateral massive subretinal exudation with bone spicule pigmentation ( Figure 4 ).[ncbi.nlm.nih.gov]

    Missing: Mutation in RP9 Gene Likely Not Pathogenic 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] […] the peripheral retina ( Figure 2 A).[bioscirep.org]

    Missing: Mutation in RP9 Gene Likely Not Pathogenic 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] 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 RP9 Gene Likely Not Pathogenic Mutation in the TTLL5 Gene