Retinal-degeneration: Causes & Reasons

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Possible Causes for retinal degeneration

Mucopolysaccharidosis

degeneration Hearing impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may [emedicine.medscape.com]

Optic nerve atrophy may also occur with advanced retinal degeneration [14]. Retinal degeneration clinically appears as sensitivity to light or night blindness [15]. [ijponline.biomedcentral.com]

Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia [medicinenet.com]

Retinitis Pigmentosa

Also known as English retinitis pigmentosa retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the [wikidata.org]

degeneration (AMD), according to a new report. [sciencedaily.com]

[…] the retina leading to progressive sight loss RP pericentral pigmentary retinopathy pigmentary degeneration of the retina edit English retinitis pigmentosa retinal degeneration [wikidata.org]

Mucopolysaccharidosis Type 2

Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration [symptoma.com]

Retinal degeneration is seen to a lesser degree in MPS IIB. Patients diagnosed with MPS IIB can live beyond the fifth decade of life. [emedicine.medscape.com]

degeneration; airway obstruction; cardiac valvular disease; and gastrointestinal problems, such as chronic diarrhea in younger patients and significant constipation later [idph.state.il.us]

Myopic Macular Degeneration

The higher grades of staphylomas were associated with more severe myopic retinal degeneration. [amdsupport.ca]

Retinal detachment People with myopic degeneration are at increased risk of a retinal detachment. [mdfoundation.com.au]

Posted 3 years ago, 3 users are following. hello, i am a 23 year old male and i have been told that I have myopic macular degeneration and have had retinal hemprrhages multiple [patient.info]

Mucolipidosis

Her vision began deteriorating at 12 years of age, due to bilateral corneal opacities and retinal degeneration. [ncbi.nlm.nih.gov]

degeneration. [ncbi.nlm.nih.gov]

degeneration and strabismus. [uniprot.org]

Photoretinitis

Description Retinitis Pigmentosa (RP) refers to a group of inherited retinal degenerations that affect the light sensitive photoreceptor cells of the retina which are important [fightingblindness.ie]

This pathologic condition is a hereditary disease that causes progressive retinal degeneration in both eyes. [tri-stl.com]

To make an appointment in Kellogg’s Inherited Retinal Degeneration Clinic, call 734-232-8080. [healthblog.uofmhealth.org]

Laurence Moon Syndrome

Laurence-Moon-Biedl syndrome A rare genetic disorder featuring mental retardation, extra toes or fingers, and a retinal degeneration, RETINITIS PIGMENTOSA, that may progress [medical-dictionary.thefreedictionary.com]

Tapeto-retinal degeneration is the most common sign. [healio.com]

The retinal degeneration is quite distinct, with Laurence-Moon syndromes resembling choroideremia, and Bardet-Biedl syndrome resembling cone-rod dystrophy or retinitis pigmentosa [genome.jp]

Non-Syndromic Ocular Stickler Syndrome Type 1

He had right rhegmatogenous retinal detachment and lattice degeneration in both eyes. [ajkd.org]

[…] and radial perivascular retinal Lattice degeneration, both of which are present in up to 100% of affected patients [4]. [eyewiki.aao.org]

However, findings of vitreoretinal degeneration, such as early-onset cataract, severe vitreous degeneration, and retinal detachment, were not observed. [clinicalgate.com]

Mucopolysaccharidosis Type 1

Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia [medicinenet.com]

Clouding of the cornea and retinal degeneration may lead to blindness. The liver and spleen may be enlarged due to the deposition of GAGs. [en.wikipedia.org]

degeneration Splenomegaly Inguinal and umbilical hernias Enlarged organs in the abdomen Skeletal dysplasia can result in short stature Joint stiffness Cardiac valve disease [medicinenet.com]

Retinopathy

Autoimmune retinopathy was suspected on the basis of the clinical presentation, electrophysiology, absence of fundus lesions, retinal degenerations or dystrophies, or intraocular [ncbi.nlm.nih.gov]

Degenerations at the Careggi Teaching Hospital of Florence from 2012 to 2017. [ncbi.nlm.nih.gov]

Retinitis pigmentosa Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders characterized by progressive bilateral degeneration of the rod and cone [institut-vision.org]

Leber Congenital Amaurosis

However, retinal degeneration continued to progress unabated. [ncbi.nlm.nih.gov]

The disease component not studied, however, has been the fate of photoreceptors in this progressive retinal degeneration. [pnas.org]

Leber congenital amaurosis 9 (LCA9) is an autosomal recessive retinal degeneration condition caused by mutations in the NAD( ) biosynthetic enzyme NMNAT1. [ncbi.nlm.nih.gov]

Macular Degeneration

The Argus II has already been tested and approved in the United States and Europe for individuals with Retinitis Pigmentosa (RP) and Outer Retinal Degeneration, respectively [businesswire.com]

Current screening protocols have limitations in detecting the early signs of retinal degeneration. [ncbi.nlm.nih.gov]

Like other macular degenerations, pathogenesis within the retinal pigment epithelium (RPE) appears to contribute to the loss of photoreceptors from the central retina. [ncbi.nlm.nih.gov]

Ataxia Telangiectasia

Björklund, Markus Ringnér, Thomas Perlmann & Johan Holmberg Nature Communications (2018) DZNep inhibits H3K27me3 deposition and delays retinal degeneration in the rd1 mice [doi.org]

Mari Sild & Linda Booij Molecular Psychiatry (2019) Histone Deacetylases Contribute to Excitotoxicity-Triggered Degeneration of Retinal Ganglion Cells In Vivo Annabelle Schlüter [doi.org]

[…] telangiectasia, immunodeficiency, radiosensitivity, infertility, predisposition to malignancies and progressive neuronal degeneration ( Crawford, 1998 ; Kastan et al., 2000 [doi.org]

Retinal Detachment

LESSONS: In this case, the retinal degeneration was morphologically different from retinal lattice degeneration, thus suggesting that it might be involved in the onset of [ncbi.nlm.nih.gov]

Asymptomatic retinal breaks and lattice degeneration are visible lesions that are risk factors for later retinal detachment. [ncbi.nlm.nih.gov]

[…] hole associated with lattice degeneration, or retinal break that occurs later at a site of lattice degeneration. [doi.org]

Hallervorden-Spatz Syndrome

The Hallervorden-Spatz syndrome (HSS) is a rare condition characterized by extrapyramidal and pyramidal signs, dystonia, dysarthria, retinal degeneration, dementia and a progressive [ncbi.nlm.nih.gov]

degeneration and brain iron accumulation. [ncbi.nlm.nih.gov]

PURPOSE: The onset of pantothenate kinase-associated neurodegeneration (PKAN) occurs in the first and second decade of life and a pigmentary retinal degeneration is a feature [ncbi.nlm.nih.gov]

Olivopontocerebellar Atrophy

[…] which is characterized by dominantly inherited cerebellar ataxia and pigmentary retinal degeneration. [ncbi.nlm.nih.gov]

degeneration (OPCA type III). [ncbi.nlm.nih.gov]

An amorphous debris, presumably degenerated photoreceptors, was noted between the outer nuclear layer and retinal pigment epithelium. [ncbi.nlm.nih.gov]

Tay-Sachs Disease

Some children may have retinitis pigmentosa, a large group of vision disorders that cause progressive degeneration of the retina, the light-sensitive membrane that coats the [rarediseases.org]

Degeneration of the nerve that carries impulses from the eye to the brain to form images (optic atrophy) may occur. [rarediseases.org]

Bonnemann-Meinecke-Reich Syndrome

Peripheral Retinal Degeneration Information on Peripheral Retinal Degeneration Peripheral Retinal Degeneration is a very common disease. [altiusdirectory.com]

Retinal Degeneration 52 Encephalopathy-Intracerebral Calcification-Retinal Degeneration Syndrome 58 Bonnemann Meinecke Reich Syndrome 52 Bonnemann-Meinecke-Reich Syndrome [malacards.org]

and retinal degeneration Annotation Sufficiency: ? [monarchinitiative.org]

Boucher-Neuhäuser Syndrome

Boucher-Neuhäuser syndrome (BNS) is rare autosomal recessive disease, characterised by cerebellar ataxia, hypogonadotropic hypogonadism and chorio-retinal degeneration. [ncbi.nlm.nih.gov]

Abstract Boucher–Neuhäuser syndrome (BNS) is rare autosomal recessive disease, characterised by cerebellar ataxia, hypogonadotropic hypogonadism and chorio-retinal degeneration [insights.ovid.com]

degeneration. [dspace.sctimst.ac.in]

Stickler Syndrome

The ocular findings, frequently bilateral, consisted of radial perivascular retinal degeneration (RPRD) (100%), vitreous syneresis (100%), high myopia (76%), retinal detachment [ncbi.nlm.nih.gov]

Of the eight patients, five did not need any therapy, two children had retinal degeneration in the left eye and retinal detachment in the right eye while one child had retinal [ncbi.nlm.nih.gov]

All patients presented with membranous vitreous anomaly, peripheral retinal degeneration, and/or rhegmatogenous retinal detachment, but no systemic manifestations. [ncbi.nlm.nih.gov]

Retinitis

PURPOSE: Increasing evidence suggests that nerve growth factor (NGF) exerts protective effects against retinal degeneration in animal models of retinitis pigmentosa (RP). [ncbi.nlm.nih.gov]

Most forms of retinitis pigmentosa and related retinal degenerations affect only the eye, although in a minority of cases the retinal degeneration is one feature of a syndrome [ommbid.mhmedical.com]

RESULTS: RCS rats showed a significant retinal degeneration associated with cell apoptosis at 40 pd when compared to wild-type animals. [ncbi.nlm.nih.gov]

Choroid Hemangioma

Unfortunately most patients have recurrent problems (retinal detachment, cystoid retinal degeneration) after this treatment and suffer loss of vision. [diagnose-me.com]

The visual defects that are observed are due to retinal degeneration overlying the tumor as well as serous retinal detachments caused by the lesion. [webeye.ophth.uiowa.edu]

Unfortunately, laser results are usually temporary and recurrence of retinal detachment or cystoid retinal degeneration usually results vision loss. [eyecancer.com]

Senior-Løken Syndrome

[…] diagnosis of these varieties of hereditary tapeto-retinal degeneration. [ncbi.nlm.nih.gov]

In Joubert syndrome (JBTS), NPHP may be associated with cerebellar vermis aplasia/hypoplasia, retinal degeneration and mental retardation. [ncbi.nlm.nih.gov]

Mutations in nine genes are linked to retinal degeneration and mutated NPHP1 to NPHP13 genes result in nephronophthisis. [symptoma.com]

Lattice Degeneration of the Retina

Abstract Lattice retinal degeneration is considered the most significant peripheral retinal disorder potentially predisposing to retinal breaks and retinal detachment. [ncbi.nlm.nih.gov]

Non-Billable/Non-Specific Code Type 1 Excludes hereditary retinal degeneration (dystrophy) ( H35.5- ) peripheral retinal degeneration with retinal break ( H33.3- ) Peripheral [icd10data.com]

[…] areas. retinal tears lattice degenerations retinal detachment Statistics from Altmetric.com retinal tears lattice degenerations retinal detachment Many studies of posterior [bjo.bmj.com]

Goldmann-Favre Syndrome

degeneration (CPRD). [ncbi.nlm.nih.gov]

(p. 437) NR2E3-Linked Retinal Degenerations: Enhanced S-Cone Sensitivity Syndrome, Goldmann-Favre Syndrome, Clumped Pigmentary Retinal Degeneration, and Retinitis Pigmentosa [oxfordmedicine.com]

OBJECTIVES: To determine if enhanced s-cone syndrome (ESCS), Goldmann-Favre syndrome (GFS), and clumped pigmentary retinal degeneration (CPRD) are caused by mutations in the [ncbi.nlm.nih.gov]

Progressive Retinal Dystrophy due to Retinol Transport Defect

Review RETINAL DEGENERATION Hendrik P. N. Scholl 1, 2, *, †, Rupert W. Strauss 2, 3, 4, 5, 6, *, Mandeep S. [stm.sciencemag.org]

Additionally, they have been implicated in the pathogenesis of various human diseases, including tumorigenesis/tumor metastasis, neuroregenerative diseases, retinal degeneration [books.google.com]

Snowflake Vitreoretinal Degeneration

[…] vitreoretinal degeneration : Snowflake retinal degeneration 3 Categories for Snowflake vitreoretinal degeneration Categories : Congenital and Genetic Diseases ; Eye diseases [familydiagnosis.com]

Peripheral retinal degenerations and the risk of retinal detachment. Am J Ophthalmol. 2003 Jul;136(1):155-60. [eyewiki.aao.org]

PURPOSE: To identify the chromosomal location of the gene causing snowflake vitreoretinal degeneration (SVD), an autosomal dominant retinal degeneration characterized by small [ncbi.nlm.nih.gov]

Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

Myopia Microphthalmia Nystagmus Optic atrophy Abnormality of retinal pigmentation • • • Back to: « Retinal degeneration-nanophthalmos-glaucoma syndrome References Source: [familydiagnosis.com]

Abstract Seven related patients had a progressive pigmentary retinal degeneration, characterized by nyctalopia, visual field restriction, and cystic macular degeneration in [ncbi.nlm.nih.gov]

Orpha Number: 1574 Disease definition Retinal degeneration-nanophthalmos- glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia [rarediseases.info.nih.gov]

Bothnia Retinal Dystrophy

Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens (see this term [orpha.net]

Degeneration Nyctalopia Fundus dystrophy Visual Acuity Blindness Retinal Degeneration Eye diseases • • • Back to: « Bothnia retinal dystrophy Disease Articles Retinal dystrophy [familydiagnosis.com]

Homepage Rare diseases Search Search for a rare disease Bothnia retinal dystrophy Disease definition Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly [orpha.net]

Vitreoretinal Degeneration

[…] peripheral retina with whitish glistening stippled areas of superficial retinal degeneration, spotty hyperpigmentation, patches of retinal atrophy with pigmentations, occasional [link.springer.com]

retinal degeneration and thinning, and atrophy of the choriocapillaris. [atlasrleye.com]