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26 Possible Causes for Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium, Mild Peripheral Retinal Pigmentary Changes, Mutation in the TTLL5 Gene

  • Cone Rod Dystrophy
  • Retinal Pigmentary Dystrophy

    […] dystrophy disorder characterized by spots of black bone-spicule pigmentation of the retinal pigment epithelium.[icd10data.com] Macular abnormalities include loss of foveal reflex, “bull’s-eye” maculopathy and macular orange pigment deposition. 11,12 Mid-peripheral retinal pigmentary changes range[reviewofophthalmology.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
  • 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] 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 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] Patients can develop peripheral mild pigmentary changes, optic disc pallor and vascular attenuation[ 69 ].[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 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] Patients can develop peripheral mild pigmentary changes, optic disc pallor and vascular attenuation[ 69 ].[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 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] Patients can develop peripheral mild pigmentary changes, optic disc pallor and vascular attenuation[ 69 ].[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 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] , 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: Mild Peripheral Retinal Pigmentary Changes Mutation in the TTLL5 Gene
  • Norrie Disease

    One individual had only mild peripheral retinal pigmentary changes with normal vision at the age of 79 years.[ncbi.nlm.nih.gov] The proband presented with a unilateral subtotal retinal detachment at the age of 3 years, and subsequently developed a slowly progressive tractional retinal detachment involving[ncbi.nlm.nih.gov]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Ocular Albinism

    Mild peripheral retinal pigmentary changes are not a definite indication of carrier status and in 45 age matched female controls five (11%) had similar changes.[ncbi.nlm.nih.gov] Ten (16%) had mild peripheral retinal pigmentary changes so that it was difficult to exclude the carrier state; six of these females were shown to be at low risk and only[ncbi.nlm.nih.gov] Twenty nine (47%) had definite fundus changes of the carrier state with a mud splattered fundus appearance and 23 (37%) had a normal ophthalmic examination.[ncbi.nlm.nih.gov]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium 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: Mild Peripheral Retinal Pigmentary Changes Mutation in the TTLL5 Gene