Create issue ticket

68 Possible Causes for Atrophy of Peripheral Retinal Pigment Epithelium, Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium, 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 the TTLL5 Gene
  • Cone Rod Dystrophy Type 15
    Missing: Atrophy of Peripheral Retinal Pigment Epithelium
  • 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] 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]

    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] Peripheral retinal pigment epithelium degeneration in equatorial location may be present.[nature.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]

    Missing: 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] Some patients manifest extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries.[uniprot.org] […] the peripheral retina ( Figure 2 A).[bioscirep.org]

    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] […] prematurity, familial exudative vitreoretinopathy, peripheral toxocara granuloma, combined hamartoma of the retina and retinal pigment epithelium, incontinentia pigmenti,[ijo.in] FA revealed widespread retinal pigment epithelium (RPE) depigmentation, and detailed the atrophic features of both posterior poles ( Figure 2c, d ).[nature.com]

    Missing: Mutation in the TTLL5 Gene
  • Lens Coloboma

    […] vessels, rare mid-peripheral bone spicules and several pigment clumps, located only in the macular atrophic area.[nature.com] […] associated with waxy pallor of the optic disc, attenuated retinal vessels, rare mid-peripheral bone spicules and several pigment clumps, located only in the macular atrophic[nature.com] FA revealed widespread retinal pigment epithelium (RPE) depigmentation, and detailed the atrophic features of both posterior poles ( Figure 2c, d ).[nature.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: Atrophy of Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Retinitis Pigmentosa

    pigment epithelium Loss of rods causes early night blindness and restricted visual fields (bilateral loss of peripheral vision) Loss of cones affects central visual acuity[pathologyoutlines.com] Retinal atrophy causes constriction of retinal vessels, optic nerve head atrophy and accumulation of retinal pigment around blood vessels Microscopic (histologic) description[pathologyoutlines.com] […] inflammatory Common (incidence of 1/3600) with variable inheritance or as part of Refsum disease Usually causes loss of rods and cones to apoptosis and focal proliferation of retinal[pathologyoutlines.com]

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

    pigment epithelium.[ncbi.nlm.nih.gov] Optic disc and peripapillary atrophy with abnormal vessels (optociliary shunts) of the optic nerve head in a patient with juvenile onset sarcoidosis.[ncbi.nlm.nih.gov] Peripheral area of capillary non-perfusion with impeding development of the neovascular membrane in ocular sarcoidosis. Late phase fluorescein angiogram.[ncbi.nlm.nih.gov]

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