{"Name":"Late-onset retinal degeneration","DiseaseID__c":"GARD:0004357","id":4357,"encodedName":"late-onset-retinal-degeneration","IsDeleted":false,"Disease_Name_Full__c":"Late-onset retinal degeneration","Xref_IDs__c":"719431007; C1854065; C202070; C565309; DOID:0060869; MEDGEN:344198; MONDO:0011579; OMIM:605670; ORPHA:67042","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011579","Disease_Description__c":"Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.","GARD_Name__c":"Late-onset retinal degeneration","GARD_Synonym__c":"autosomal dominant late-onset retinal degeneration; lord; retinal degeneration, late-onset, autosomal dominant","Curated_Disease_Description_Source__c":"MONDO:0011579","Curated_Disease_Description__c":"Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:67042","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011579","ORPHANET_ID__c":"ORPHA:67042","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Degeneración retiniana de inicio tardío","Spanish_Description_Source__c":"ORPHA:67042","Spanish_Description__c":"Es una distrofia hereditaria de la retina caracterizada por una adaptación retardada a la oscuridad y nictalopia, así como por la presencia de drusas en la edad adulta, seguida por una degeneración de conos y bastones que se presenta en la sexta década de vida y que conduce a una pérdida de la visión central. En el segmento anterior pueden observarse algunas características, tales como defectos de transiluminación peripupilar e inserciones zonulares anteriores anómalamente largas. En etapas avanzadas de la enfermedad puede darse neovascularización coroidea y glaucoma.","Spanish_Disease_Name__c":"degeneración retiniana de inicio tardío","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97966","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.","Curated_Disease_Description_Source__c":"MONDO:0011579","GARD_Synonym__c":"autosomal dominant late-onset retinal degeneration; lord; retinal degeneration, late-onset, autosomal dominant","Name":"Late-onset retinal degeneration","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:67042"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:67042"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1854065"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004357","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060869","Source__c":"MONDO:0011579","Xref__c":"DOID:0060869"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719431007","Source__c":"C1854065; MONDO:0011579","Xref__c":"719431007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=344198","Source__c":"C1854065","Xref__c":"MEDGEN:344198"},{"URL__c":"https://www.orpha.net/en/disease/detail/67042","Source__c":"C1854065; MONDO:0011579; ORPHA:67042","Xref__c":"ORPHA:67042"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565309","Source__c":"MONDO:0011579","Xref__c":"C565309"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1854065","Source__c":"C1854065","Xref__c":"C1854065"},{"URL__c":"https://www.omim.org/entry/605670","Source__c":"C1854065; MONDO:0011579; ORPHA:67042","Xref__c":"OMIM:605670"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C202070","Source__c":"C1854065","Xref__c":"C202070"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011579","Source__c":"GARD:0004357","Xref__c":"MONDO:0011579"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"C1QTNF5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Intraocular pressure that is 2 standard deviations above the population mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007906","HPO_Synonym__c":"Elevated intraocular pressure; Elevated IOP; High eye pressure; Increased intraocular pressure; Increased IOP; Raised intraocular pressure; Raised IOP","HPO_Name__c":"Ocular hypertension","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inability to see well at night or in poor light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000662","HPO_Synonym__c":"Night blindness; Night-blindness; Poor night vision","HPO_Name__c":"Nyctalopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Well-defined or diffused area or lesion of loss of normal retinal tissue; this is often illustrated by greyish discoloration of fundus and/or better visible choroidal vasculature on funduscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001099","HPO_Synonym__c":"Fundus atrophy","HPO_Name__c":"Atrophic fundus lesion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in the Bruch membrane of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011510","HPO_Name__c":"Drusen","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012628","HPO_Synonym__c":"Abnormality of the suspensory ligament of lens; Abnormality of zinn's membrane; Ciliary zonule abnormality; Zonule of zinn abnormality","HPO_Name__c":"Abnormal suspensory ligament of lens morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500087","HPO_Name__c":"Peripapillary atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An epiretinal membrane is a thin sheet of fibrous tissue on the surface of the retina along the inner limiting membrane. It appears as a greyish semi-translucent avascular membrane over the internal limiting membrane (ILM) on the surface of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100014","HPO_Synonym__c":"Cellophane maculopathy; Macular pucker; Premacular fibrosis; Surface wrinkling retinopathy","HPO_Name__c":"Epiretinal membrane","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001141","HPO_Synonym__c":"Marked vision impairment; Severe reduction in visual acuity; Severe vision loss; Severe visual impairment; Severe visual loss; Severely impaired vision","HPO_Name__c":"Severely reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Choroidal neovascularization (CNV) is the inward growth of new blood vessels arising from the choriocapillaris. Depending on the stage of development, they can be external (type 1 NV) or internal (type 2 NV) to the retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011506","HPO_Synonym__c":"Choroidal neovascular membrane","HPO_Name__c":"Choroidal neovascularization","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012805","HPO_Name__c":"Iris transillumination defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficulty with discriminating red and green hues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000642","HPO_Synonym__c":"Dyschromatopsia with red-green confusion; Red green color blindness","HPO_Name__c":"Red-green dyschromatopsia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004328","HPO_Synonym__c":"Abnormal anterior segment morphology; Abnormality of the anterior segment of the eye; Abnormality of the anterior segment of the eyeball; Abnormality of the anterior segment of the globe","HPO_Name__c":"Abnormal anterior eye segment morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030534","HPO_Name__c":"Abnormal best corrected visual acuity test","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000608","HPO_Name__c":"Macular degeneration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of iris tissue (atrophy)","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001089","HPO_Synonym__c":"Iris degeneration","HPO_Name__c":"Iris atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000552","HPO_Synonym__c":"Blue yellow color blindness; Blue-yellow dyschromatopsia; Dyschromatopsia, blue-yellow","HPO_Name__c":"Tritanomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) that occurs in small, isolated areas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007791","HPO_Name__c":"Patchy atrophy of the retinal pigment epithelium","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting) of the choroid and retinal layers of the fundus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000533","HPO_Synonym__c":"Chorioretinal degeneration; Chorioretinal thinning","HPO_Name__c":"Chorioretinal atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007401","HPO_Name__c":"Macular atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67042","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deposits accumulating between the outer retina and the retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031528","HPO_Name__c":"Subretinal deposits","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal"],"Account":["Retinal"]},"synonyms":["autosomal dominant late-onset retinal degeneration"," lord"," retinal degeneration, late-onset, autosomal dominant"]}