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52 Possible Causes for Progressive Retinal Degeneration in Adults

  • Alpha-Mannosidosis

    Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967. In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency.[…][en.wikipedia.org]

  • Progressive Myoclonic Epilepsy Type 7

    […] variant (Kufs disease) Genetics Clinical features: Onset in third or fourth decade Progressive dementia Seizures Myoclonus Ataxia No blindness or retinal degeneration Rare[neurodiffdx.com] […] features: Onset 5–10 years of age Begins with progressive visual loss Pigmentary degeneration of the retina Myoclonic and generalized seizures Death by end of the second decade Adult[neurodiffdx.com]

  • Retinitis Pigmentosa

    Retinitis pigmentosa is usually diagnosed in adolescents and young adults and is a progressive disorder.[disabled-world.com] In most hereditary retinal diseases, such as retinitis pigmentosa, the photoreceptors progressively degenerate, often causing blindness in adult life, and there is no therapy[doi.org] People with mainly cone degeneration; however, first experience decreased central vision and ability to discriminate color.[disabled-world.com]

  • Non-Syndromic Ocular Stickler Syndrome Type 1 

    As many as three quarters of adult patients have retinal breaks.[disorders.eyes.arizona.edu] Vitreoretinal degeneration is progressive and by the second decade rhegmatogenous detachments occur in half of affected patients.[disorders.eyes.arizona.edu]

  • Cystic Kidney

    They may also have visual problems such a progressive loss of their peripheral vision (retinitis pigmentosa) and retinal degeneration.[my.clevelandclinic.org] Adults can develop polyuria (excessive urination) polydipsia (excessive thirst, anemia (low red blood cells) and progressive renal failure.[my.clevelandclinic.org]

  • Kyphoscoliosis

    As many as three quarters of adult patients have retinal breaks.[disorders.eyes.arizona.edu] Vitreoretinal degeneration is progressive and by the second decade rhegmatogenous detachments occur in half of affected patients.[disorders.eyes.arizona.edu]

  • Leydig Cell Hypoplasia due to LHB Deficiency

    […] dystrophy BEST1 Macular degeneration, age related BEST1 Leber congenital amaurosis BEST1 Adult vitelliform macular dystrophy BEST1 "Bulls eye" maculopathy BEST1 Best macular[springer.com] […] dystrophy BEST1 Congenital cataract BFSP2 Cataract, progressive, juvenile onset BFSP2 Bloom syndrome BLM Hypogammaglobulinaemia BLNK Hermansky-Pudlak syndrome BLOC1S3 Premature[springer.com] Oculofaciocardiodental syndrome BCOR Microphthalmia with associated anomalies BCOR Complex 3 deficiency BCS1L GRACILE syndrome BCS1L Adult vitelliform maculopathy BEST1 Nanophthalmos and retinal[springer.com]

  • Retinitis Pigmentosa 37

    Expression of a transgenic ninaE allele analogous to a known RP4 mutation in the human RHO gene results in progressive retinal degeneration in adults.[flybase.org] There are defects in the rhabdomeres of photoreceptor cells R1-R6; progressive retinal degeneration is observed.[flybase.org] In animals carrying null mutations of ninaE , the adult compound eye does not develop normally.[flybase.org]

  • Stickler Syndrome

    As many as three quarters of adult patients have retinal breaks.[disorders.eyes.arizona.edu] Vitreoretinal degeneration is progressive and by the second decade rhegmatogenous detachments occur in half of affected patients.[disorders.eyes.arizona.edu]

  • Spinocerebellar Ataxia Type 1

    Retinal degeneration is a distinctive feature of SCA7 with progressive cone-rod dystrophy leading to eventual blindness [ 100 ].[doi.org] Adult-onset SCA7 is characterized by progressive cerebellar ataxia, slowed ocular saccades, dysarthria, dysphagia, and pyramidal symptoms, such as hyperreflexia and spasticity[doi.org]

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