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53 Possible Causes for Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium, Mutation in the TTLL5 Gene, Onset of Disease around 10 Years of Age

  • Cone Rod Dystrophy
  • Hereditary Late-Onset Parkinson Disease

    Early-onset Parkinson's disease strikes people around the age of 40 years, or even earlier.[emedicinehealth.com] Regardless of age at onset of the disease, dementia symptoms tend to appear later (after about 10 to 15 years) in the course of the disease.[emedicinehealth.com] Most people have the first symptoms of Parkinson's disease after the age of 60 years, but Parkinson's disease also affects younger people.[emedicinehealth.com]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Young-Onset Parkinson Disease

    Early-onset Parkinson's disease strikes people around the age of 40 years, or even earlier.[emedicinehealth.com] Regardless of age at onset of the disease, dementia symptoms tend to appear later (after about 10 to 15 years) in the course of the disease.[emedicinehealth.com] Most people have the first symptoms of Parkinson's disease after the age of 60 years, but Parkinson's disease also affects younger people.[emedicinehealth.com]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium 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: Mutation in the TTLL5 Gene Onset of Disease around 10 Years of Age
  • Parkinson's Disease

    Early-onset Parkinson's disease strikes people around the age of 40 years, or even earlier.[emedicinehealth.com] Regardless of age at onset of the disease, dementia symptoms tend to appear later (after about 10 to 15 years) in the course of the disease.[emedicinehealth.com] Most people have the first symptoms of Parkinson's disease after the age of 60 years, but Parkinson's disease also affects younger people.[emedicinehealth.com]

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

    Disease-onset associated with duplications occurs at around 50 years and the age-of-onset associated with triplications is earlier at 38 years ( /-13). 10 Therefore a gene[acnr.co.uk]

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

    Onset is typically at around 10 years of age with myoclonic or tonic–clonic seizures.[academic.oup.com] ULD is an autosomal recessive disease that occurs worldwide, with clusters in the Baltic and Mediterranean regions.[academic.oup.com]

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

    Onset is typically around the age of 5 years. Major aphthae (Sutton disease, representing approximately 10%-15% of cases) are deep ulcers that are 1-3 cm in diameter.[visualdx.com]

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

    Median age at disease onset is around 70 years; only about 10% of patients are below the age of 50 ( 2 ).[doi.org] The incidence of MDS rises sharply with advancing age, reaching over 50 per 100 000/year in the age group over 80 years ( e1 ).[doi.org]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Systemic Lupus Erythematosus with Organ/System Involvement

    However, with a median age of disease onset around 12 years, this means that at the age of 22 to 27 years up to 15% of cSLE patients have died. 66 Mortality in the first several[ncbi.nlm.nih.gov] Mortality rates have decreased significantly over the past two decades, with 10 and 15 year survival exceeding 85%.[ncbi.nlm.nih.gov]

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