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193 Possible Causes for Autosomal Dominant, Fundoscopy Abnormal

  • Retinitis Pigmentosa

    In some patients with autosomal dominant retinitis pigmentosa, the disease is caused by one of a variety of mutations of the rhodopsin gene.[] Genetic heterogeneity is present in autosomal dominant retinitis pigmentosa.[] Our data identified two new autosomal dominant mutations in PRPF31, expanding the mutational spectrum of this gene.[]

  • Retinal Angioma

    Patil Medical College & Hospital, Pune, Maharashtra India DOI : 10.4103/1858-540X.124849 Von Hippel Lindau (VHL) disease is a rare multisystem autosomal dominant disease characterized[] Genetics This is an autosomal dominant disorder caused by mutations in three genes.[] Available from: Introduction Von Hippel Lindau (VHL) disease is a rare multisystem autosomal dominant disease characterized by retinal, cerebellum and spinal cord hemangioblastomas[]

  • Retinal Pigmentary Dystrophy

    Fundoscopy is unremarkable. Visual fields show a relative central scotoma. ERG is the most useful tool in assessing function.[] dominant trait.[] Keywords Retinitis Pigmentosa Retinal Degeneration Autosomal Dominant Disease Autosomal Dominant Inheritance Autosomal Recessive Disease These keywords were added by machine[]

  • Alport Syndrome

    Keywords: Hereditary nephritis, Alport′s syndrome, Autosomal dominant.[] From his paternal family history, the disease was transmitted by autosomal dominant inheritance. The diagnosis of autosomal dominant Alport syndrome was made.[] Alport syndrome is more frequently inherited as an X-linked and less commonly as an autosomal dominant or autosomal recessive trait.[]

  • Retinitis

    Nonsyndromic retinitis pigmentosa can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.[] Other cases of RP, where family history has been determined, fall into three main categories: autosomal recessive, autosomal dominant, and X-linked recessive.[] Nonsyndromic Retinitis Pigmentosa, Autosomal recessive retinitis pigmentosa, arRP, Nonsyndromic Retinitis Pigmentosa, Autosomal dominant retinitis pigmentosa, adRP Inheritance[]

  • Best Disease

    PURPOSE: To describe the clinical and molecular characteristics of two families with autosomal dominant Best disease and atypical electrooculography (EOG).[] The autosomal dominant mode of inheritance seen in this condition implies that a positive family history is the main risk factor.[] Mutations in the gene VMD2 are associated with autosomal dominant vitelliform macular dystrophy (Best disease).[]

  • Stargardt Macular Degeneration

    On the basis of patterns of inheritance, STGD can be divided into autosomal recessive (STGD1), which is more common, and autosomal dominant forms (STGD3, or Stargardt-like[] An autosomal dominant form of Stargardt disease also known as Stargardt-like dystrophy is caused by mutations in a gene encoding ELOVL4, an enzyme that catalyzes the elongation[] It is notable that all mutations were detected in large autosomal dominant families.[]

  • Retinoblastoma

    Retinoblastoma is often inherited in an autosomal dominant fashion.[] The cancer may be hereditary; inheritance is mainly autosomal dominant but with incomplete penetrance (clinical symptoms are not always present in individuals who have the[] In the other 40% of cases, there is a family history and the disease follows an autosomal dominant pattern of inheritance. So how does this work?[]

  • Foveal Retinoschisis

    Fundoscopy is unremarkable. Visual fields show a relative central scotoma. ERG is the most useful tool in assessing function.[] Autosomal dominant inheritance of retinoschisis. Am J Ophthalmol 1982; 94: 338–343.[] Autosomal Dominant Inheritance of Retinoschisis. American Journal of Ophthalmology. 1982 Sep 1;94(3):338–43.[]

  • Senior-Løken Syndrome

    They are expressed in the same specific cilitated neurons that express gene homologs of the autosomal dominant polycystic kidney disease and Bardet-Biedl syndrome genes.[] ; PAPRS Low match RENAL CYSTS AND DIABETES SYNDROME; RCAD The 'renal cysts and diabetes syndrome' is an autosomal dominant disorder comprising (1) nondiabetic renal disease[] MCKD1 Autosomal dominant 1q21 MUC1, mucin1 Missense MCKD2 Autosomal dominant 16p12* UMOD, Uromodulin Missense *Co-localizes with familial juvenile hyperuricemic nephropathy[]

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