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224 Possible Causes for Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium, Mutation in the TTLL5 Gene, Narrowed Retinal Vessels

  • Cone Rod Dystrophy
  • Spondylocarpotarsal Synostosis

    Lens opacities, rarefaction of retinal pigmentation, and narrowing of retinal vessels, detected in two patients, are findings that have not been described to date in this[ncbi.nlm.nih.gov] Lens opacities, rarefaction of retinal pigmentation, and narrowing of retinal vessels were seen in 2 patients.[bio2rdf.org] One of the consanguineous families with SCT syndrome and eye abnormalities that included lens opacities, rarefaction of the retinal pigmentation, and narrowing of the retinal[jmg.bmj.com]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Usher Syndrome Type 1K

    Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Unless fitted with a cochlear implant, individuals do not typically develop speech. Retinitis pigmentosa (RP), a progressive, bilateral, symmetric[…][ncbi.nlm.nih.gov]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Leber Congenital Amaurosis Typ 14

    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] Fundus examinations revealed marked retinal degeneration with maculopathy, slight retinal vessels narrowing, and pigmentation in the midperiphery.[nature.com] Over time, the retina deteriorates; retinal blood vessels can become thin and narrow and undergo pigmentary changes.[ucsfhealth.org]

    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] […] and straightened retinal vessels, very mild macular RPE atrophy, peripheral hypopigmented areas with mild RPE clumping Nondetectable Concentric narrowing to 5 42110 F 56[iovs.arvojournals.org] The retina usually looks normal in early life but, abnormal retinal pigment, narrowing of the retinal blood vessels, and pale optic disc may appear.[aapos.org]

    Missing: 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] Ophthalmoscopy at the late stage revealed optic atrophy, macular dystrophy, narrowing of the retinal vessels, and hypopigmentation.[healio.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
  • Retinitis Pigmentosa 32

    peripheral bone spicules in both eyes.[ncbi.nlm.nih.gov] , fine dust-like intraretinal pigmentation, and loss of pigment from the pigment epithelium Moderate to severe retinal vessel attenuation and waxy pallor of the optic nerve[centogene.com] The classic fundus appearance of RP includes retinal pigment epithelial (RPE) cell changes resulting in retinal hypo or hyperpigmentation, narrowed retinal vessels, pallor[ncbi.nlm.nih.gov]

    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] […] periphery, and narrowing of retinal vessels without atrophy of the optic disc.[molvis.org] The middle stage shows a more patchy loss of the RPE and the beginning of retinal vessel attenuation.[institut-vision.org]

    Missing: 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] The retina has a postequatorial bone spicule pattern of pigmentation with narrowing of arterial vessels.[disorders.eyes.arizona.edu] 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
  • 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] Fundus examinations revealed marked retinal degeneration with maculopathy, slight retinal vessels narrowing, and pigmentation in the midperiphery.[nature.com] Blood vessels often become narrow and constricted.[carverlab.org]

    Missing: Mutation in the TTLL5 Gene