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1,795 Possible Causes for Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium, Chorioretinitis, 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] A unifocal area of acute-onset inflammation adjacent to an old chorioretinal scar is virtually pathognomonic for toxoplasmic chorioretinitis.[en.wikipedia.org] All patients had unilateral focal chorioretinitis without associated old scars in the posterior pole.[ncbi.nlm.nih.gov]

    Missing: Mutation in the TTLL5 Gene
  • Toxoplasmosis

    We report the first SS-OCT images of an acute case of toxoplasmosis chorioretinitis.[ncbi.nlm.nih.gov] See also separate Chorioretinal Inflammation article.[patient.info] To report the swept-source optical coherence tomography (SS-OCT) findings in a case of acute toxoplasmosis chorioretinitis.[ncbi.nlm.nih.gov]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium 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] .: Chorioretinal Heredodegenerations, pp. 176–180. Charles C. Thomas, Springfield, (1974).[link.springer.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
  • Coloboma of Choroid and Retina

    […] vessels, rare mid-peripheral bone spicules and several pigment clumps, located only in the macular atrophic area.[nature.com] There were 138 (69.7%) patients with bilateral chorioretinal colobomata and 59 (29.8%) with unilateral involvement.[nature.com] .Sharma K 2019 4 Familial exudative vitreoretinopathy in a patient with choroidal coloboma. ( 30846457 ) Kumar V...Padhy SK 2019 5 Cataract surgery outcomes in eyes with chorioretinal[malacards.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] As with X-linked retinoschisis, there is both macular and peripheral schisis with pigmentary alterations (bone corpuscle type) and chorioretinal atrophy.[link.springer.com] No eye exhibited current or prior evidence of chorioretinal inflammation or subretinal neovascularization.[iovs.arvojournals.org]

    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] Investigation 80 Downloads 15 Citations Abstract · Background: The purpose of this retrospective clinical study was to demonstrate vascularization of peripheral hyperplastic chorioretinal[link.springer.com] Vasoproliferative retinal tumors associated with peripheral chorioretinal scars in presumed congenital toxoplasmosis .[nature.com]

    Missing: Mutation in the TTLL5 Gene
  • Syphilis

    For emergency physicians it is important to be aware of iritis, uveitis, or chorioretinitis as ocular manifestations of neurosyphilis especially in this high-risk population[ncbi.nlm.nih.gov] […] secondary syphilis convert 091.4 to ICD-10-CM 091.5 Uveitis due to secondary syphilis 091.50 Syphilitic uveitis, unspecified convert 091.50 to ICD-10-CM 091.51 Syphilitic chorioretinitis[icd9data.com] Ocular syndromes can affect virtually any part of the eye; they include interstitial keratitis, uveitis (anterior, intermediate, and posterior), chorioretinitis, retinitis[msdmanuals.com]

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

    It shows the need for more consistent monitoring for chorioretinitis in infants with congenital CMV infection.[ncbi.nlm.nih.gov] CONCLUSION: There are two distinct patterns of chorioretinal involvement in CMV retinitis.[ncbi.nlm.nih.gov] On the 4 th attendance in 5 months, a granular white lesion was noted in the temporal periphery of the mid-peripheral fundus and a chorioretinal and vitreous biopsy performed[ncbi.nlm.nih.gov]

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

    In congenital cases, ocular toxoplasmosis often presents as a focal whitish fluffy lesion in the retina adjacent to an inactive chorioretinal scar.[ncbi.nlm.nih.gov] Fundal examination showed bilateral chorioretinitis.[ncbi.nlm.nih.gov] Congenital toxoplasmosis was suspected after finding hydrocephalus, cerebral calcification, and chorioretinitis.[ncbi.nlm.nih.gov]

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

    The clinical records of patients with syphilis chorioretinitis were reviewed.[ncbi.nlm.nih.gov] Chorioretinitis caused by infection include toxoplasma chorioretinitis and HIV chorioretinitis.[vision-and-eye-health.com] If the retina is also involved, it is called chorioretinitis. Another form of uveitis is pars planitis.[nlm.nih.gov]

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

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