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23 Possible Causes for Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium, Mild Retinal Arteriolar Constriction, Mutation in the TTLL5 Gene

  • Cone Rod Dystrophy Type 15
  • 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 Retinal Arteriolar Constriction Mutation in the TTLL5 Gene
  • Systemic Lupus Erythematosus

    Moderately severe cases may also have focal or generalized arteriolar constriction and venous tortuosity.[academic.oup.com] Mild lupus retinopathy consists of cotton–wool spots, perivascular hard exudates, retinal haemorrhages and vascular tortuosity [ 20 ] ( Figs 2 and 3 ).[academic.oup.com]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Cone Rod Dystrophy Type 8
    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 Retinal Arteriolar Constriction 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: Mild Retinal Arteriolar Constriction 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: Mild Retinal Arteriolar Constriction 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: Mild Retinal Arteriolar Constriction 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: Mild Retinal Arteriolar Constriction 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: Mild Retinal Arteriolar Constriction Mutation in the TTLL5 Gene