Retinal Dysplasia: Causes & Reasons

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Possible Causes for Retinal Dysplasia

Muscular Dystrophy-Dystroglycanopathy Type A4

retinal dysplasia and gyral malformations are not commonly appreciated in FCMD 7. [radiopaedia.org]

Walker-Warburg Syndrome Clinical Characteristics Ocular Features: The eyes are usually small and contain either retinal dysplasia or a congenital retinal detachment. [disorders.eyes.arizona.edu]

Dysplasia — MDDGA1 — Chemke Syndrome — Syndrome, Chemke — COD-MD Syndrome — COD MD Syndrome — COD-MD Syndromes — Syndrome, COD-MD — Syndromes, COD-MD — Congenital Muscular [mesh.kib.ki.se]

Complex Cortical Dysplasia with Other Brain Malformations Type 6

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]

dysplasia. [merckmanuals.com]

Non-Syndromic Ocular Stickler Syndrome Type 1

Retinal detachment in spondyloepiphyseal dysplasia congenita. J Pediatr Orthop 1993;13:791–792. [docksci.com]

Aplasia Retinal Dysplasia + Retinal Dystrophy, Early Onset Severe retinitis pigmentosa + Retinohepatoendocrinologic Syndrome Rhegmatogenous Retinal Detachment, Autosomal [rgd.mcw.edu]

[…] displacement, and retinal dysplasia. [eyewiki.aao.org]

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]

Norrie disease (congenital retinal detachment), X-linked primary retinal dysplasia (congenital retinal fold), and X-linked exudative vitreoretinopathy (congenital macular [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]

Retinohepatoendocrinologic Syndrome

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]

Retinal Dysplasia, X - Linked Retinal Dystrophy Retinal Edema Retinal Hemorrhage Retinal Migraine Retinal Neovascularization Retinal Scarring Retinal Tear Retinal Telangiectasia [healthgrades.com]

Senior-Løken Syndrome

[…] pigmentosa and peripheral dysostosis]. 57 Diekmann L...Schulte-Kemna E 617982 1977 45 Electro-rentinal abnormalities in heterozygotes of renal-retinal dysplasia. 57 Hogewind [malacards.org]

Hereditary renal-retinal dysplasia. Ann. Intern. Med. 70: 735-744, 1969. PubMed ID: 5771531 Caridi, G., Murer, L., Bellaneuono, R., Sorino, p. [wohproject.org]

[…] syndrome Senior-Loken Syndrome type 1 SENIOR-LOKEN SYNDROME 1 SLSN1 SENIOR-LOKEN SYNDROME 1; SLSN1 Renal Dysplasia and Retinal Aplasia Loken-Senior Syndrome Senior-Loken [wikidata.org]

Retinal Pigmentary Dystrophy

Last updated Aug. 28, 2017 The topic Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome you are seeking is a synonym, or alternative [dovemed.com]

[…] recessive Bardet-Biedl syndrome IFT81 ciliopathy IFT140 Short -rib thoracic dysplasia with or without polydactyly IFT172 Retinitis pigmentosa, Short -rib thoracic dysplasia [molecularvisionlab.com]

Acronym SRTD9 Synonyms Conorenal syndrome Mainzer-Saldino disease Mainzer-Saldino syndrome MSS MZSDS Renal dysplasia retinal pigmentary dystrophy cerebellar ataxia and skeletal [uniprot.org]

Nephronophthisis Type 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]

Nephronophthisis 9

Three patients in one family had renal-retinal dysplasia with probable recessive inheritance. [annals.org]

dysplasia, Documenta Ophthalmologica, 1980, 49, 2, 347 CrossRef 5 Y. [onlinelibrary.wiley.com]

Rokkones TD, Loken AC: Congenital renal dysplasia, retinal dysplasia and mental retardation associated with hyperprolinuria and hyper-OH-prolinuria. [link.springer.com]

Congenital Malformation of Vitreous Humor

PHPV rarely is bilateral in patients with Norrie's disease, Warburg syndrome, or patients with retinal dysplasia. [ncbi.nlm.nih.gov]

Histological examination showed retrolental fibrovascular tissue and retinal dysplasia. [ncbi.nlm.nih.gov]

dysplasia Radiology images AFIP images CT scan: microphthalmic eye with total retinal detachment Gross images AFIP images Mild microphthalmos with persistent hyaloid artery [pathologyoutlines.com]

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]

Roifman Syndrome

(p. 204) Roifman Syndrome: (Spondyloepiphyseal Dysplasia, Retinal Dystrophy and Antibody Deficiency) This chapter provides pictures and clinical details of ROIFMAN SYNDROME [oxfordmedicine.com]

DISEASE: Roifman syndrome Entry H01575 Disease Name Roifman syndrome; Spondyloepiphseal dysplasia, retinal dystrophy, and antibody deficiency Supergrp Spondyloepiphyseal dysplasia [genome.jp]

DISEASE: Roifman syndrome Entry H01575 Disease Name Roifman syndrome; Spondyloepiphseal dysplasia, retinal dystrophy, and antibody deficiency Description Roifman syndrome [genome.jp]

Exudative Vitreoretinopathy Type 2

Further screening in a cohort of 10 retinal dysplasia/severe FEVR patients identified an additional three cases with recessive TSPAN12 mutations. [ncbi.nlm.nih.gov]

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). [acronyms.thefreedictionary.com]

Nephronophthisis Type 2

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]

Intraocular Medulloepithelioma

Unilateral retinal dysplasia is usually not associated with a specific syndrome. [ajnr.org]

Detachment Retinal Dysplasia Retinopathy of Prematurity (ROP) Retinoblastoma Strabismus Toxocariasis Trauma Glow of the Month: Coloboma Posted on 2019-04-25 Know The Glow [knowtheglow.org]

Detachment Retinal Dysplasia Retinopathy of Prematurity (ROP) Retinoblastoma Strabismus Toxocariasis Trauma January is Glaucoma Awareness Month Posted on 2019-01-31 The month [knowtheglow.org]

Congenital Primary Aphakia

The ocular examination showed a microphthalmia with colobomata and retinal dysplasia. [ijo.in]

[…] the iris, retinal dysplasia, or sclerocornea). [orpha.net]

dysplasia 0007973 Sclerocornea Hardening of skin and connective tissue 0000647 Percent of people who have these symptoms is not available through HPO Aniridia Absent iris [rarediseases.info.nih.gov]

Uncombable Hair Syndrome

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

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

Kniest Dysplasia

Vitrectomy and silicon oil injection were effective in reattaching the retinal detachment in a Kniest dysplasia patient. [ncbi.nlm.nih.gov]

Abstract SUMMARY A syndrome of bone dysplasia, pseudoglioma and deafness is described in 4 unrelated children. [onlinelibrary.wiley.com]

[…] development dysplasie | malformation UGENT - Medical terms - UGENT - Medical terms - Spondyloepiphyseal dysplasia, retinal dystrophy, immunodeficiency syndrome syndrome de [wordscope.com]

Spondyloepiphyseal Dysplasia Type Cantú

(p. 204) Roifman Syndrome: (Spondyloepiphyseal Dysplasia, Retinal Dystrophy and Antibody Deficiency) This chapter provides pictures and clinical details of ROIFMAN SYNDROME [oxfordmedicine.com]

[…] detachment Czech dysplasia, metatarsal type Dysspondyloenchondromatosis Familial avascular necrosis of femoral head Generalized juvenile polyposis / juvenile polyposis coli [csbg.cnb.csic.es]

Boomerang dysplasia 0 *Dwarfism *Osteochondrodysplasias *Facies. [reference.md]

Oculo-Palato-Cerebral Syndrome

Acta Ophthalmol. 51, 43-37, Warburg, M. (1976) Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia: a guide to genetic counseling. [myslide.es]

Tractional retinal folds and traction retinal detachment may be present. Retinal dysplasia and optic nerve hypoplasia have also been described. [medtextfree.wordpress.com]

dysplasia Refsum disease Refsum disease, infantile form Renal coloboma syndrome Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Retinal [familydiagnosis.com]

Lens Coloboma

dysplasia May also be part of systemic anomalies, including: CHARGE association (coloboma, congenital heart disease, and choanal atresia, growth or development retardation [dro.hs.columbia.edu]

dysplasia or retinal detachment, sensory nystagmus, cortical visual loss, and optic nerve hypoplasia. [en.wikipedia.org]

[…] macular detachment Other associated ocular findings may include: Coloboma of the lens, ciliary body and choroid Microphthalmos with orbital cyst Persistent hyaloid artery Retinal [dro.hs.columbia.edu]

Aprosencephaly and Cerebellar Dysgenesis

dysplasia within normally-formed globes. [ncbi.nlm.nih.gov]

The median eye displayed severe retinal dysplasia with posterior retinal coloboma. [jmg.bmj.com]

dysplasia); (3) mild midface malformations, such as pyriform sinus stenosis and choanal stenosis; (4) the mildest abnormalities, such as hypotelorism, solitary median maxillary [hal.inserm.fr]

Medullary Cystic Kidney Disease

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]

(ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly INPP5E Joubert syndrome, Mental retardation, truncal obesity, retinal dystrophy [genda.com.ar]

Nephronophthisis Type 1

Three patients in one family had renal-retinal dysplasia with probable recessive inheritance. [annals.org]

It may be associated other systemic abnormalities like ocular (e.g., retinal dysplasia, etc.), oculomotor, musculoskeletal and renal (e.g., cystic dysplasia, nephronophthisis [ncbi.nlm.nih.gov]

dysplasia, Documenta Ophthalmologica, 1980, 49, 2, 347 CrossRef 5 Y. [onlinelibrary.wiley.com]

Microphthalmos

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]

Orbital and cranial computerized tomographic scanning and magnetic resonance imaging demonstrated bilateral microphthalmos and presumed retinal dysplasia, hypoplasia of the [ncbi.nlm.nih.gov]

Other congenital diseases such as microcornea, microcoria, heterochromia iridis, microlentia, cataracts, retinal dysplasia, retinal detachment, anterior segment dysgenesis [vetbook.org]

Sorsby Syndrome

Hydrocephalus, agyria, retinal dysplasia, encephalocele (HARD +/- E) syndrome: an autosomal recessive condition. [ncbi.nlm.nih.gov]

[…] detachment, microphthalmia, retinal dysplasia, corneal and vitreous opacities, cataract, optic atrophy XLR NDP #310600 NEURONAL CEROID LIPOFUSCINOSIS Optic atrophy, retinal [eyewiki.aao.org]

Congenital Anomaly of the Retina

dysplasia, persistent fetal vasculature, retinal detachment, and gastroschisis in a preterm neonate. [experts.umn.edu]

Pigmentosa Stargardt Toxoplasmosis Congentinal Pigment Epithelial Hypertrophy Posterior Segment Masses Coats and Retinal Dysplasia Combine Hamartoma Angioma Choroidal Hemangioma [morancore.utah.edu]

The ocular disease may be confused with retinal dysplasia (as seen in pseudogliomas and Norrie disease [ 310600 ]) or retinopathy of prematurity. [disorders.eyes.arizona.edu]

Thoracomelic Dysplasia

[…] thinning Retinal dysplasia Bowing of the legs Anonychia Spondyloepiphyseal dysplasia Coxa valga Short phalanx of finger Round face Short palm Conductive hearing impairment [mendelian.co]

DYSPLASIA 266810 : RENAL AND MULLERIAN DUCT HYPOPLASIA 266910 : RENAL DYSPLASIA-LIMB DEFECTS SYNDROME 266920 : RENAL DYSPLASIA, RETINAL PIGMENTARY DYSTROPHY, CEREBELLAR ATAXIA [www5.geometry.net]

Mégarbané type Axial spondylometaphyseal dysplasia Blomstrand lethal chondrodysplasia Blount disease Bone dysplasia, lethal Holmgren type Boomerang dysplasia Brachydactylous [se-atlas.de]

Coloboma of Choroid and Retina

[…] anomaly Congenital retinoschisis Diffuse retinal dysplasia Geographic retinal dysplasia Multifocal retinal dysplasia Retinal dysplasia ICD-9-CM Volume 2 Index entries containing [icd9data.com]

dysplasia May also be part of systemic anomalies, including: CHARGE association (coloboma, congenital heart disease, and choanal atresia, growth or development retardation [columbiaeye.org]

Retinitis punctata albescens Revesz syndrome Septo-optic dysplasia spectrum Severe early-childhood-onset retinal dystrophy Sorsby pseudoinflammatory fundus dystrophy Stargardt [se-atlas.de]