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]