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2,066 Possible Causes for Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium, Mutation in the TTLL5 Gene, Retinal Pigmentation

  • Retinal Pigmentary Dystrophy

    […] dystrophy disorder characterized by spots of black bone-spicule pigmentation of the retinal pigment epithelium.[icd10data.com] […] of the retinal pigment epithelium/photoreceptor complex.[ncbi.nlm.nih.gov] Related Links Search PubMed for articles on Retinal Pigment Epithelial (RPE) Hypertrophy Search Google for information on Retinal Pigment Epithelial (RPE) Hypertrophy[eyecancer.com]

    Missing: 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] Human retinal pigment epithelial (RPE) cells (ARPE-19) were infected in vitro with T. gondii and collected after 60, 120, 240 min, and 24 h.[ncbi.nlm.nih.gov] The retina was thickened in 22 (91.7%) eyes, the retinal pigment epithelium-Bruch membrane reflective complex was focally increased or contained focal splits in 16 (66.7%)[ncbi.nlm.nih.gov]

    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] They hypothesize that the mutated KCNJ13 gene may be associated with a potassium channel defect in the retinal pigment epithelium, which in turn may be a cause of LCA16.[pediatrics.wisc.edu] NFL, nerve fiber layer; IPL, inner plexiform layer; OPL, outer plexiform layer; ONL, outer nuclear layer; PR, photoreceptors; RPE, retinal pigment epithelium. F igure 2.[iovs.arvojournals.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] Ophthalmoscopic examinations revealed peripheral retinoschisis in the superior temporal retina, diffusely abnormal retinal pigment epithelium, and lack of macular and foveal[ncbi.nlm.nih.gov] Clinical Relevance The combination of night blindness, hyperopia, and clumped retinal pigment deposits should raise the suspicion that a patient has NR2E3 disease.[ncbi.nlm.nih.gov]

    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] KCNJ13 mutations are responsible for early-onset retinal dystrophy, featuring remarkable clumpy pigment deposits at the level of the retinal pigment epithelium, suggesting[ncbi.nlm.nih.gov] […] of the retinal pigment epithelium Retinal pigment epithelial dystrophy Vitelliform dystrophy Applies To Fundus flavimaculatus Vitelliform dystrophy ICD-9-CM Volume 2 Index[icd9data.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] […] the sensory retina H35.54 Dystrophies primarily involving the retinal pigment epithelium H35.6 Retinal hemorrhage H35.60 …… unspecified eye H35.61 …… right eye H35.62 …… left[icd10data.com] pigment epithelium at the border of the exudative retinal changes (n 9), and vitreous haemorrhages (n 4).[bjo.bmj.com]

    Missing: Mutation in the TTLL5 Gene
  • Retinal Dystrophy

    […] dystrophy disorder characterized by spots of black bone-spicule pigmentation of the retinal pigment epithelium.[icd10data.com] Our study uncovers the pathogenic mechanism whereby absence of RPGR(ORF15) glutamylation leads to retinal pathology in patients with TTLL5 gene mutations and connects these[ncbi.nlm.nih.gov] , retinal pigment epithelium, Bruch membrane, choroid, or a combination of these tissues.[medical-dictionary.thefreedictionary.com]

  • Coloboma of Choroid and Retina

    […] vessels, rare mid-peripheral bone spicules and several pigment clumps, located only in the macular atrophic area.[nature.com] Optical coherence tomography shows that the neurosensory retina is abnormally atrophied, and retinal pigment epithelium and choroid are absent in the lesion (A).[synapse.koreamed.org] […] structures including choroid and retinal pigment epithelium (leaving bare sclera) is confirmed with OCT.[ijo.in]

    Missing: Mutation in the TTLL5 Gene
  • Retinitis Pigmentosa 32

    peripheral bone spicules in both eyes.[ncbi.nlm.nih.gov] […] families. 13 14 A relative lack of pigmentation adjacent to retinal arterioles was also seen in the Pakistani RP112 family.[jmg.bmj.com] […] of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. ( 3 ) References: GARD:5694 ICD10CM:H35.52 MESH:C538365 MESH:D012174[zfin.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] Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone[ghr.nlm.nih.gov] […] pigmentosa 9 (RP9) [MIM:180104]: A retinal dystrophy belonging to the group of pigmentary retinopathies.[genecards.org]

    Missing: Mutation in the TTLL5 Gene

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