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2,624 Possible Causes for Pigmentary Retinopathy

  • Retinitis Pigmentosa

    retinopathy pigmentary degeneration of the retina edit English retinitis pigmentosa retinal degeneration characterized by the gradual deterioration of the photoreceptors[wikidata.org] […] or the retinal pigment epithelium of the retina leading to progressive sight loss RP pericentral pigmentary retinopathy pigmentary degeneration of the retina Statements Identifiers[wikidata.org] […] degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss RP pericentral pigmentary[wikidata.org]

  • Hallervorden-Spatz Syndrome

    The phenotype includes dystonia, dementia and retinitis pigmentosa, with iron accumulation in the basal ganglia and diffuse axonal swellings.[ohsu.pure.elsevier.com] retinopathy, and cognitive impairment.[ncbi.nlm.nih.gov] RECENT FINDINGS: Disease caused by mutations in the gene encoding pantothenate kinase 2 (PANK2) is characterized by dystonia and pigmentary retinopathy in children or speech[ncbi.nlm.nih.gov]

  • Congenital Bile Acid Synthesis Defect Type 4

    An ophthalmological examination may reveal cataracts, retinitis pigmentosa and pigmentary retinopathy.[symptoma.com]

  • Congenital Deafness

    […] iridis and pigmentary retinopathy.[symptoma.com] Some families with atypical late onset retinitis pigmentosa and borderline vestibular dysfunction.[bmb.oxfordjournals.org] LXXIX The Association of Nerve Deafness and Retinitis Pigmentosa Interval Report . Annals of Otology, Rhinology & Laryngology, Vol. 69, Issue. 4, p. 1044.[journals.cambridge.org]

  • Mitochondrial Trifunctional Protein Deficiency

    retinopathy, and acute fatty liver degeneration in pregnant women with an affected fetus.[ncbi.nlm.nih.gov] retinopathy..[rarediseases.info.nih.gov] Mitochondrial trifunctional protein deficiency, a recently identified disorder of fatty-acid oxidation, may show characteristic features such as peripheral neuropathy, pigmentary[ncbi.nlm.nih.gov]

  • Laurence Moon Syndrome

    Laurence-Moon-Biedl syndrome - mental retardation, pigmentary retinopathy, hypogenitalism, and spastic paraplegia. Moon, Robert C., U.S. ophthalmologist, 1844-1914.[medical-dictionary.thefreedictionary.com] The five cardinal features of syndrome include – polydactyly, pigmentary retinopathy , obesity, mental retardation and hypogonadism.[de.slideshare.net] Lau·rence-Moon syn·drome ( law'rĕnts mūn ), [MIM*245800] disorder characterized by mental retardation, pigmentary retinopathy, hypogenitalism, and spastic paraplegia; autosomal[medical-dictionary.thefreedictionary.com]

  • Retinitis Pigmentosa 37

    Definition A retinal dystrophy belonging to the group of pigmentary retinopathies.[uniprot.org] Name Retinitis Pigmentosa 37 Synonyms - Classification eye, genetic Phenotypes Autosomal dominant inheritance ; Autosomal recessive inheritance ; Cataract ; Cystoid macular[mousephenotype.org] Retinitis pigmentosa 64 (RP64) [MIM:614500]: A retinal dystrophy belonging to the group of pigmentary retinopathies.[genecards.org]

  • Leber Congenital Amaurosis

    Fundoscopy showed fundus features of pigmentary retinopathy with atrophic macular lesions.[ncbi.nlm.nih.gov] Pigmentary retinopathy in the peripheral retina and macular atrophy were observed in the two probands.[ncbi.nlm.nih.gov] Available from: Association of pigmentary retinopathy and nephropathy has been described as a juvenile renalretinal syndrome with autosomal recessive inheritance. [1] , [2[ijo.in]

  • Usher Syndrome

    Two types are accepted clinically: type I is associated with profound congenital deafness with progressive pigmentary retinopathy and total loss of vestibular function.[ncbi.nlm.nih.gov] The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular areflexia, and retinitis pigmentosa sine pigmento (RPSP).[ncbi.nlm.nih.gov] A 28 years old woman with hearing impairment diagnosed at the age of 3 months and progressive pigmentary retinopathy diagnosed at the age of 19 years, has been treated for[ncbi.nlm.nih.gov]

  • Usher Syndrome Type 1

    retinopathy in childhood or early adolescence.[ncbi.nlm.nih.gov] Abstract The Usher syndromes (USH) are autosomal recessive diseases characterized by congenital sensorineural hearing loss and progressive pigmentary retinopathy.[ncbi.nlm.nih.gov] Usher syndrome is the name most commonly given to the association of retinitis pigmentosa (RP) and congenital sensorineural hearing loss, whether partial or profound.[aao.org]

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