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72 Possible Causes for Fundoscopy Abnormal, Polydactyly, Progressive Loss of Vision

  • Retinitis Pigmentosa

    The two siblings showed signs of RP and polydactyly.[ncbi.nlm.nih.gov] A 35-year-old man presented with history of painless, progressive loss of vision in the left eye for the past 7 years.[ncbi.nlm.nih.gov] Her main complaints were night blindness and progressive loss of vision since the age of 9 years.[ncbi.nlm.nih.gov]

  • Senior-Løken Syndrome

    Physical examination should consider the presence of the main clinical signs of JSRD (hypotonia, ataxia and breathing abnormalities in infants) and BBS (polydactyly and obesity[orpha.net] Symptoms of RP range in age of onset and severity, and may include night blindness, progressive loss of peripheral vision, and eventual loss of central vision, leading to[rarediseases.info.nih.gov] Unlike Usher Syndrome, where a progressive loss of vision is typical, vision loss in individuals with LCA usually remains stable through young adult life.[tsbvi.edu]

  • Retinitis

    The person having BBS also has extra fingers or toes a condition called polydactyly and hypogonadism, a condition affecting the secretion of hormones.[irisvision.com] A loss of side vision, or tunnel vision, is also common as RP progresses.[retinaspecialistsnw.com] Short stature, renal dysfunction, and polydactyly are some signs of Bardet-Biedl syndrome or Laurence-Moon syndrome when associated with pigmentary retinopathy.[patient.info]

  • Retinal Pigmentary Dystrophy

    Fundoscopy is unremarkable. Visual fields show a relative central scotoma. ERG is the most useful tool in assessing function.[patient.info] Polydactyly is variably present.[uniprot.org] Retinitis pigmentosa (RP) is a group of hereditary retinal diseases, which are characterized by progressive loss of peripheral vision, and...[atlasrleye.com]

  • Retinopathy

    Neuropathy, motor and sensory, Russe type (Charcot-Marie-Tooth disease type 4G) AD/AR 9 7 IDH3B Retinitis pigmentosa AR 2 3 IFT140 Short -rib thoracic dysplasia with or without polydactyly[blueprintgenetics.com] Over time this causes photoreceptor cells to die and progressive loss of vision results.[retinaaustralia.com.au] RESULTS: A 31-year-old woman presented with a history of myasthenia gravis and rapidly progressive vision loss at the age of 23.[ncbi.nlm.nih.gov]

  • Alport Syndrome

    , and intellectual disabilities) 759.89 Barth 759.89 basal cell nevus 759.89 Beckwith (-Wiedemann) 759.89 Biedl-Bardet (obesity, polydactyly, and intellectual disabilities[icd9data.com] Chronic renal failure Decrease or loss of vision End-stage renal disease Permanent deafness The goals of treatment include monitoring and controlling progression of the disease[lutheranhealthcare.org] These eye abnormalities seldom lead to vision loss.[ghr.nlm.nih.gov]

  • Sturge-Weber Syndrome

    Less commonly, this condition is also associated with fusion of certain fingers or toes (syndactyly) or the presence of extra digits ( polydactyly ).[ghr.nlm.nih.gov] If your child’s vision loss progresses to near-total or total loss of sight, he or she must be taught to complete tasks without use of vision.[afb.org] Glaucoma can potentially damage the optic nerve, the main nerve that transmits signals from the eye to the brain, ultimately resulting in progressive vision loss.[rarediseases.org]

  • Sorsby Syndrome

    Fundoscopy is unremarkable. Visual fields show a relative central scotoma. ERG is the most useful tool in assessing function.[patient.info] Register OBESITY, HYPOGENITALIS, MENTAL RETARDATION, POLYDACTYLY, AND RETINAL PIGMENTATION THE LAURENCE-MOON-BIDL SYNDROME - 24 Hours access EUR 36.00 GBP 28.00 USD 45.00[academic.oup.com] Retinitis pigmentosa (RP) is a group of hereditary retinal diseases, which are characterized by progressive loss of peripheral vision, and...[atlasrleye.com]

  • Congenital Hemihypertrophy

    Slit lamp fundoscopy and/or indirect ophthalmoscope can demonstrate foveal hypoplasia and any associated optic disc malformations.[eyewiki.aao.org] We report on a female infant with mucometrocolpos, postaxial polydactyly, congenital heart disease, short limbs, short ribs, and chest constriction.[onlinelibrary.wiley.com] Syndrome 2 MPPH2 615937 Genetic Test Registry Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 MPPH3 615938 Genetic Test Registry Proteus Syndrome Gigantism[ukgtn.nhs.uk]

  • Helsmoortel-van der Aa Syndrome

    Slit lamp fundoscopy and/or indirect ophthalmoscope can demonstrate foveal hypoplasia and any associated optic disc malformations.[eyewiki.aao.org] J Med Genet 13:466–468 Google Scholar Fryns JP, Van den Berghe H (1979) congenital scalp defects associated with postaxial polydactyly.[link.springer.com] […] hypoplastic kidneys anal: anteriorly placed, stenotic, or imperforate anus ears: abnormally shaped pinna, external auditory canal stenosis, hearing loss hands and feet: preaxial polydactyly[radiopaedia.org]

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