{"Name":"Sorsby fundus dystrophy","DiseaseID__c":"GARD:0016480","id":16480,"encodedName":"sorsby-fundus-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Sorsby fundus dystrophy","Xref_IDs__c":"193410003; C1850938; C206110; C564992; DOID:0090114; MEDGEN:338164; MONDO:0007640; OMIM:136900; ORPHA:59181","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007640","Disease_Description__c":"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.","GARD_Name__c":"Sorsby fundus dystrophy","GARD_Synonym__c":"fundus dystrophy, pseudoinflammatory, of sorsby; hemorrhagic macular dystrophy; macular dystrophy, hemorrhagic; pseudoinflammatory fundus dystrophy of sorsby; sfd; sorsby fundus dystrophy, lavia type; sorsby pseudoinflammatory fundus dystrophy; sorsby's fundus dystrophy","Curated_Disease_Description_Source__c":"MONDO:0007640","Curated_Disease_Description__c":"A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:59181","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007640","ORPHANET_ID__c":"ORPHA:59181","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia pseudoinflamatoria de sorsby del fondo de ojo","Spanish_Description_Source__c":"ORPHA:59181","Spanish_Description__c":"La distrofia de Sorsby del fondo del ojo es una distrofia macular progresiva autosómica dominante poco frecuente, que se presenta entre la tercera y la sexta década de vida, y que se caracteriza por atrofia retiniana y desprendimiento de retina, dando lugar a pérdida de visión central, a continuación pérdida de visión periférica y, finalmente, ceguera.","Spanish_Disease_Name__c":"distrofia pseudoinflamatoria de sorsby del fondo de ojo","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":"A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.","Curated_Disease_Description_Source__c":"MONDO:0007640","GARD_Synonym__c":"fundus dystrophy, pseudoinflammatory, of sorsby; hemorrhagic macular dystrophy; macular dystrophy, hemorrhagic; pseudoinflammatory fundus dystrophy of sorsby; sfd; sorsby fundus dystrophy, lavia type; sorsby pseudoinflammatory fundus dystrophy; sorsby's fundus dystrophy","Name":"Sorsby fundus dystrophy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Macular Disease Society","Website__c":"https://www.macularsociety.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":"Adult","Provided_By__c":"ORPHA:59181"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850938","Source__c":"C1850938","Xref__c":"C1850938"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090114","Source__c":"MONDO:0007640","Xref__c":"DOID:0090114"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564992","Source__c":"MONDO:0007640","Xref__c":"C564992"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=193410003","Source__c":"C1850938; MONDO:0007640","Xref__c":"193410003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338164","Source__c":"C1850938","Xref__c":"MEDGEN:338164"},{"URL__c":"https://www.orpha.net/en/disease/detail/59181","Source__c":"C1850938; MONDO:0007640; ORPHA:59181","Xref__c":"ORPHA:59181"},{"URL__c":"https://www.omim.org/entry/136900","Source__c":"C1850938; MONDO:0007640; ORPHA:59181","Xref__c":"OMIM:136900"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007640","Source__c":"GARD:0016480","Xref__c":"MONDO:0007640"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C206110","Source__c":"C1850938","Xref__c":"C206110"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TIMP3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:59181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the choroid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000610","HPO_Synonym__c":"Abnormality of the choroid","HPO_Name__c":"Abnormal choroid morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:59181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the capillary lamina of choroid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030491","HPO_Name__c":"Choriocapillaris atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:59181","HPO_Frequency__c":"Occasional (5-29%)","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:59181","HPO_Frequency__c":"Occasional (5-29%)","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:59181","HPO_Frequency__c":"Very frequent (80-99%)","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:59181","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:59181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030625","HPO_Name__c":"Hyporeflective spaces on macular OCT","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:59181","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:59181","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:59181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001129","HPO_Synonym__c":"Large central loss of field of vision","HPO_Name__c":"Large central visual field defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:59181","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:59181","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of white and/or yellow lesion located anywhere within the macula. These lesions can be flat or raised and can vary in size from very small to bigger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030500","HPO_Synonym__c":"Yellow/white lesion of the macula","HPO_Name__c":"Yellow/white macular lesion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:59181","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007754","HPO_Name__c":"Macular dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:59181","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000580","HPO_Synonym__c":"Pigmentary retinal deposits; Retinal pigment clumping; Retinal pigmentary clumping; Retinal pigmentary degeneration","HPO_Name__c":"Pigmentary retinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:59181","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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001105","HPO_Name__c":"Retinal atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:59181","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030602","HPO_Name__c":"Abnormal fundus autofluorescence imaging","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:59181","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).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007722","HPO_Name__c":"Retinal pigment epithelial atrophy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal"],"Account":["Retinal"]},"synonyms":["fundus dystrophy, pseudoinflammatory, of sorsby"," hemorrhagic macular dystrophy"," macular dystrophy, hemorrhagic"," pseudoinflammatory fundus dystrophy of sorsby"," sfd"," sorsby fundus dystrophy, lavia type"," sorsby pseudoinflammatory fundus dystrophy"," sorsby's fundus dystrophy"]}