{"Name":"Fundus dystrophy, pseudoinflammatory, recessive form","DiseaseID__c":"GARD:0009633","id":9633,"encodedName":"fundus-dystrophy-pseudoinflammatory-recessive-form","IsDeleted":false,"Disease_Name_Full__c":"Fundus dystrophy, pseudoinflammatory, recessive form","Xref_IDs__c":"C1849694; C535828; MEDGEN:337888; MONDO:0009918; OMIM:264420","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:264420","Disease_Description__c":"Pseudoinflammatory fundus dystrophy was described by {6:Sorsby et al. (1949)} as a dominant disorder (see {136900}). The existence of a recessive form was suggested by several reports. From Finland, {3:Forsius et al. (1982)} reported a family in which both parents (who were related) were affected and all of their 8 children were also affected. Among collateral relatives, 3 other cases were found. All affected individuals over age 30 years had an 'exudative' process in the central part of the retina, often complicated at some stage by hemorrhages. The age of onset varied from the second to the fourth decade. Myopia increased rapidly in the active stages. The recessive form may have somewhat earlier age of onset on the average. An apparently recessive form was reported in 1 family by {5:Sorsby (1940)}. {4:Francois (1961)} reported 2 brothers who were thought to have the recessive form. {1:Eriksson et al. (1990)} provided follow-up on the family reported by {3:Forsius et al. (1982)}. They presented a pedigree documenting that the grandparents and parents of all 8 affected children were related in many ways. One of the 8 children had an affected daughter and an unaffected son. {1:Eriksson et al. (1990)} gave a comparison of the autosomal dominant and autosomal recessive forms of pseudoinflammatory fundus dystrophy, called by them the Sorsby type and the Lavia (Finnish) type, respectively. The Finnish type, thought to be inherited as an autosomal recessive, had earlier onset than the Sorsby type, with relatively rapid loss of visual acuity and striking peripheral retinal degeneration and secondary dyschromatopsia. Dark adaptation was normal in the Sorsby type and disturbed in the Lavia type.\\n\\nHowever, after heterozygous mutations in the gene encoding tissue inhibitor of metalloproteinases-3 (TIMP3; {188826}) were found as the cause of Sorsby fundus dystrophy, {2:Felbor et al. (1997)} restudied the Lavia kindred and showed that all affected members were heterozygous for a gly166-to-cys mutation in the TIMP3 gene ({188826.0004}) and provided strong evidence for an autosomal dominant inheritance of the Sorsby fundus dystrophy phenotype in this kindred. They concluded from all available data that SFD is a genetically homogeneous, although clinically heterogeneous, autosomal dominant disorder.","GARD_Name__c":"Fundus dystrophy, pseudoinflammatory, recessive form","GARD_Synonym__c":"pfd, finnish type","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Pseudoinflammatory fundus dystrophy is a disease that affects the retina in the eye. There are two types of this disease: a dominant type and a recessive type. The recessive type is less common and usually starts earlier in life. It can cause rapid loss of vision and damage to the outer edges of the retina. The dominant type usually starts later in life and does not affect the outer edges of the retina. Both types of the disease can cause problems with color vision and dark adaptation. Scientists have found that both types of this disease is caused by a change in a gene called TIMP3. Both types of the disease are inherited from a parent who has the changed gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:264420","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009918","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Pseudoinflammatory fundus dystrophy is a disease that affects the retina in the eye. There are two types of this disease: a dominant type and a recessive type. The recessive type is less common and usually starts earlier in life. It can cause rapid loss of vision and damage to the outer edges of the retina. The dominant type usually starts later in life and does not affect the outer edges of the retina. Both types of the disease can cause problems with color vision and dark adaptation. Scientists have found that both types of this disease is caused by a change in a gene called TIMP3. Both types of the disease are inherited from a parent who has the changed gene.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"pfd, finnish type","Name":"Fundus dystrophy, pseudoinflammatory, recessive form","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=337888","Source__c":"C1849694","Xref__c":"MEDGEN:337888"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535828","Source__c":"MONDO:0009918","Xref__c":"C535828"},{"URL__c":"https://www.omim.org/entry/264420","Source__c":"C1849694; MONDO:0009918","Xref__c":"OMIM:264420"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849694","Source__c":"C1849694","Xref__c":"C1849694"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009918","Source__c":"GARD:0009633","Xref__c":"MONDO:0009918"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:264420","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:264420","Feature__r":{"HPO_Description__c":"Progressive loss of peripheral retinal pigment epithelium (RPE) and/or neurosensory retinal cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007769","HPO_Name__c":"Peripheral retinal degeneration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:264420","Feature__r":{"HPO_Description__c":"A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007641","HPO_Synonym__c":"Color blindness","HPO_Name__c":"Dyschromatopsia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:264420","Feature__r":{"HPO_Description__c":"Bleeding located within the retina. Retinal hemorrhages range from the smallest dot and blot hemorrhage to massive sub-hyaloid hemorrhage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000573","HPO_Synonym__c":"Retinal bleeding; Retinal hemorrhages","HPO_Name__c":"Retinal hemorrhage","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:264420","Feature__r":{"HPO_Description__c":"A reduction of previously attained ability to see.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000529","HPO_Synonym__c":"Loss of visual acuity; Progressive loss of vision; Progressive vision loss; Progressive visual acuity loss; Progressive visual impairment; Slowly progressive visual loss; Vision loss, progressive; Visual loss, progressive","HPO_Name__c":"Progressive visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:264420","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007822","HPO_Name__c":"Central retinal exudate","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Retinal"],"Specialist":["Retinal"]},"synonyms":["pfd, finnish type"]}