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5,665 Possible Causes for Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium, Loss of Vision, 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] CASE PRESENTATION: An 18-year old Syrian female patient presented with bilateral gradual loss of vision since early childhood, with recent deterioration in her left eye.[ncbi.nlm.nih.gov] Case 1: A 5-month-old girl was diagnosed with LCA because of nystagmus, loss of vision and non-recordable ERG.[ncbi.nlm.nih.gov]

    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] vision.[ncbi.nlm.nih.gov] Outcome And Complication  Central vision will be lost  Permanent loss of vision  Sudden loss of vision. 16.[slideshare.net]

    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] Cloudy areas form on the cornea, leading to severe visual impairment, usually when a person is in their 50s. Who Gets It?[webmd.com]

  • Eyeball Injury

    This type of injury places a child at risk for permanent loss of vision.[aapos.org] Partial or total loss of vision 4. Blood or a clear fluid leaking from a wound 5.[sja.org.uk] Yes Vision loss still present No Vision loss still present Did the vision loss occur within the past day?[peacehealth.org]

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

    The disease is responsible for one in ten cases of visual impairment.[telegraph.co.uk] Vision loss begins with peripheral or side vision.[glaucoma.org] Glaucoma can damage the optic nerve and cause loss of vision or blindness.[icd9data.com]

    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] MAIN OUTCOME MEASURES: Loss of vision, funduscopic evidence of pigmentary retinal disease or diabetic retinopathy, and electrophysiologic evidence of defective functioning[ncbi.nlm.nih.gov] […] disorders that cause progressive vision loss.[icdlist.com]

    Missing: 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] It mainly causes an infant to be born with loss of vision.[altiusdirectory.com] […] of vision Paediatric ophthalmology Eyelid, lacrimal and orbit External eye disease Corneal, refractive and cataract surgery Glaucoma Vitreo-retinal Neuro-ophthalmology Op[books.google.com]

    Missing: Mutation in the TTLL5 Gene
  • Keratitis

    The patient presented with progressive loss of vision with best-corrected visual acuity 20/40. Immature cataract with 1.43D against the rule astigmatism was noted.[ncbi.nlm.nih.gov] PURPOSE: Despite following standard treatment, Pseudomonas keratitis can continue to progress and result in loss of vision or of the eye.[ncbi.nlm.nih.gov] BACKGROUND Keratitis caused by herpes simplex virus (HSV) can have detrimental effects on the cornea leading to loss of vision.[ncbi.nlm.nih.gov]

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

    This further indicates that complete vision loss never sets in.[symptoma.com] It can occur in ‘dry’ and ‘wet’ forms and is the major cause of visual impairment amongst adults from the age of 50. Discover our visual aids for Macular Degeneration .[in.optelec.com] BACKGROUND: Age-related macular degeneration (AMD) causes progressive and irreversible damage to the retina, resulting in loss of central vision.[ncbi.nlm.nih.gov]

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

    She presented with a history of acute, painless vision loss in her left eye over a period of 10 days.[ncbi.nlm.nih.gov] A 36-year-old woman presented with acute vision loss and was found to have disc oedema and retinitis pigmentosa (RP).[ncbi.nlm.nih.gov] Acute vision loss may occur in patients with RP and prompt steroid therapy may result in partial visual recovery.[ncbi.nlm.nih.gov]

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

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