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1,328 Possible Causes for Retinal Dysplasia

  • Norrie Disease

    X-linked primary retinal dysplasia (PRD) refers to an abnormal proliferation of retinal tissue causing either its neural elements or its glial tissue to form folds, giving[ncbi.nlm.nih.gov] CONCLUSIONS: No other vitreoretinopathy that the authors have seen demonstrates this characteristic retinal presentation of severe retinal dysplasia.[ncbi.nlm.nih.gov] Due to ophthalmological and audio-otological findings, including bilateral retinal dysplasia and detachment, progressive bilateral sensorineural hearing loss, and an X-linked[ncbi.nlm.nih.gov]

  • Patau Syndrome

    Heart defects Structural eye defects, including microphthalmia, Peters anomaly, cataract, iris and/or fundus (coloboma), retinal dysplasia or retinal detachment, sensory nystagmus[cytogenx.com] : most well known associated CNS anomaly: 40-50% 9 microcephaly fetal hydrocephalus enlarged cisterna magna agenesis of the corpus callosum persistent stapedial artery 5 retinal[radiopaedia.org] Structural eye defects, including microphthalmia, Peters' anomaly, cataract, iris or fundus (coloboma), retinal dysplasia or retinal detachment, sensory nystagmus, cortical[en.wikipedia.org]

  • Persistent Hyperplastic Primary Vitreous

    Histological examination showed retrolental fibrovascular tissue and retinal dysplasia.[ncbi.nlm.nih.gov] PHPV rarely is bilateral in patients with Norrie's disease, Warburg syndrome, or patients with retinal dysplasia.[ncbi.nlm.nih.gov] Six eyes (17%) maintained Snellen visual acuity despite posterior PHPV with some degree of retinal dysplasia.[ncbi.nlm.nih.gov]

  • Nephronophthisis 3

    Three patients in one family had renal-retinal dysplasia with probable recessive inheritance.[annals.org] Rokkones TD, Loken AC: Congenital renal dysplasia, retinal dysplasia and mental retardation associated with hyperprolinuria and hyper-OH-prolinuria.[link.springer.com] Hereditary renal-retinal dysplasia differs from medullary cystic disease and nephronophthisis in its pattern of uniformly recessive inheritance and its accompaniment by retinitis[annals.org]

  • Uncombable Hair Syndrome

    Several conditions are associated with uncombable hair, such as ectodermal dysplasia, retinal dysplasia/ pigmentary dystrophy, juvenile cataract, digit abnormalities, tooth[oadoi.org]

  • Nephronophthisis 12

    Three patients in one family had renal-retinal dysplasia with probable recessive inheritance.[annals.org] Rokkones TD, Loken AC: Congenital renal dysplasia, retinal dysplasia and mental retardation associated with hyperprolinuria and hyper-OH-prolinuria.[link.springer.com] dysplasia, Documenta Ophthalmologica , 1980 , 49 , 2, 347 CrossRef 5 Y.[onlinelibrary.wiley.com]

  • Nephronophthisis 9

    Three patients in one family had renal-retinal dysplasia with probable recessive inheritance.[annals.org] Rokkones TD, Loken AC: Congenital renal dysplasia, retinal dysplasia and mental retardation associated with hyperprolinuria and hyper-OH-prolinuria.[link.springer.com] dysplasia, Documenta Ophthalmologica , 1980 , 49 , 2, 347 CrossRef 5 Y.[onlinelibrary.wiley.com]

  • Microphthalmos

    Orbital and cranial computerized tomographic scanning and magnetic resonance imaging demonstrated bilateral microphthalmos and presumed retinal dysplasia, hypoplasia of the[ncbi.nlm.nih.gov] Ocular findings in this case included clinical anophthalmos with bilateral fused eyelids, optic nerve aplasia, absent cornea and lens, and retinal dysplasia.[ncbi.nlm.nih.gov] Other congenital diseases such as microcornea , microcoria , heterochromia iridis , microlentia , cataracts , retinal dysplasia , retinal detachment , anterior segment dysgenesis[vetbook.org]

  • Retinohepatoendocrinologic Syndrome

    Retinal Dysplasia, X - Linked Retinal Dystrophy Retinal Edema Retinal Hemorrhage Retinal Migraine Retinal Neovascularization Retinal Scarring Retinal Tear Retinal Telangiectasia[healthgrades.com] dysplasia X linked Retinal telangiectasia hypogammaglobulinemia Retinis pigmentosa deafness hypogenitalism Retinitis pigmentosa mental retardation deafness Retinitis pigmentosa-deafness[mindmappedia.com] […] degeneration Retinal dysplasia X linked Retinal telangiectasia hypogammaglobulinemia Retinis pigmentosa deafness hypogenitalism Retinitis pigmentosa mental retardation deafness[fact-index.com]

  • Autosomal Dominant Rhegmatogenous Retinal Detachment

    Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). Invest Ophthalmol Vis Sci. 2012;53(6):2873-2879.[retinatoday.com] […] should be scheduled at around the time of puberty for patients with spondyloepimetaphyseal dysplasia— Strudwick type to detect any asymptomatic retinal pathology.[journals.lww.com] Ikegawa S, Iwaya T, Taniguchi K, Kimizuka M (1993) Retinal detachment in spondyloepiphyseal dysplasia congenita. J Pediatr Orthoped 13:791–792 Google Scholar 8.[link.springer.com]

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