{"Name":"Lattice corneal dystrophy Type I","DiseaseID__c":"GARD:0009678","id":9678,"encodedName":"lattice-corneal-dystrophy-type-i","IsDeleted":false,"Disease_Name_Full__c":"Lattice corneal dystrophy Type I","Xref_IDs__c":"419197009; C1690006; C537881; MEDGEN:305533; MONDO:0007380; OMIM:122200; ORPHA:98964","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007380","Disease_Description__c":"Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.","GARD_Name__c":"Lattice corneal dystrophy Type I","GARD_Synonym__c":"biber-haab-dimmer dystrophy; cdl1; classic lattice corneal dystrophy; lattice corneal dystrophy type 1; lcd1; lcdi","Curated_Disease_Description_Source__c":"GARD:0009678","Curated_Disease_Description__c":"Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairment. The cornea is made up of several layers of tissue, and in lattice corneal dystrophy type I, the deposits form in the stromal layer. The amyloid deposits form as delicate, branching fibers that create a lattice pattern. Affected individuals often have recurrent corneal erosions, which are caused by separation of particular layers of the cornea from one another. Corneal erosions are very painful and can cause sensitivity to bright light (photophobia). Lattice corneal dystrophy type I is usually bilateral, which means it affects both eyes. The condition becomes apparent in childhood or adolescence and leads to vision problems by early adulthood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:98964","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007380","ORPHANET_ID__c":"ORPHA:98964","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia corneal reticular tipo i","Spanish_Description_Source__c":"ORPHA:98964","Spanish_Description__c":"La distrofia corneal reticular tipo I (LCDI) es una forma frecuente de distrofia corneal estromal (consulte este término), caracterizada por una red de opacidades filamentosas, ramificadas, interdigitalizadas y delicadas en la córnea, con deterioro visual progresivo y sin manifestaciones sistémicas.","Spanish_Disease_Name__c":"distrofia corneal reticular tipo i","Spanish_GARD_Synonym__c":"distrofia corneal reticular clásica; distrofia corneal reticular tipo 1; distrofia de biber-haab-dimmer; lcd1; lcdi","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":"Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairment. The cornea is made up of several layers of tissue, and in lattice corneal dystrophy type I, the deposits form in the stromal layer. The amyloid deposits form as delicate, branching fibers that create a lattice pattern. Affected individuals often have recurrent corneal erosions, which are caused by separation of particular layers of the cornea from one another. Corneal erosions are very painful and can cause sensitivity to bright light (photophobia). Lattice corneal dystrophy type I is usually bilateral, which means it affects both eyes. The condition becomes apparent in childhood or adolescence and leads to vision problems by early adulthood.","Curated_Disease_Description_Source__c":"GARD:0009678","GARD_Synonym__c":"biber-haab-dimmer dystrophy; cdl1; classic lattice corneal dystrophy; lattice corneal dystrophy type 1; lcd1; lcdi","Name":"Lattice corneal dystrophy Type I","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.org/"},{"Account_Name__c":"National Alliance for Eye and Vision Research","Website__c":"http://www.eyeresearch.org/"},{"Account_Name__c":"Cornea Research Foundation of America","Website__c":"http://www.cornea.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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:98964"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1690006"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009678","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=305533","Source__c":"C1690006","Xref__c":"MEDGEN:305533"},{"URL__c":"https://www.orpha.net/en/disease/detail/98964","Source__c":"C1690006; MONDO:0007380; ORPHA:98964","Xref__c":"ORPHA:98964"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=419197009","Source__c":"C1690006; MONDO:0007380","Xref__c":"419197009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1690006","Source__c":"C1690006","Xref__c":"C1690006"},{"URL__c":"https://www.omim.org/entry/122200","Source__c":"C1690006; MONDO:0007380; ORPHA:98964","Xref__c":"OMIM:122200"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537881","Source__c":"MONDO:0007380","Xref__c":"C537881"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007380","Source__c":"GARD:0009678","Xref__c":"MONDO:0007380"},{"URL__c":"https://medlineplus.gov/genetics/condition/lattice-corneal-dystrophy-type-i","Source__c":"GARD:0009678","Xref__c":"https://medlineplus.gov/genetics/condition/lattice-corneal-dystrophy-type-i"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TGFBI","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tgfbi","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98964","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of corneal clarity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007957","HPO_Synonym__c":"Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye","HPO_Name__c":"Corneal opacity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98964","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000495","HPO_Synonym__c":"Corneal erosions, recurrent; Recurrent breakdown of clear protective layer of eye; Recurrent corneal ulceration","HPO_Name__c":"Recurrent corneal erosions","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98964","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008039","HPO_Name__c":"Subepithelial corneal opacities","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98964","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000481","HPO_Synonym__c":"Abnormality of the cornea; Corneal abnormalities; Corneal abnormality","HPO_Name__c":"Abnormal cornea morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98964","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001149","HPO_Synonym__c":"Biber haab dimmer dystrophy","HPO_Name__c":"Lattice corneal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98964","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced transparency of the central portion of the corneal stroma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011493","HPO_Name__c":"Central opacification of the cornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98964","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007924","HPO_Synonym__c":"Slow decrease in sharpness of vision; Subacute deterioration of visual acuity","HPO_Name__c":"Slow decrease in visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98964","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced transparency of the central posterior portion of the corneal stroma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008511","HPO_Name__c":"Central posterior corneal opacity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98964","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200026","HPO_Synonym__c":"Eye pain","HPO_Name__c":"Ocular pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98964","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000559","HPO_Name__c":"Corneal scarring","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98964","HPO_Frequency__c":"Frequent (30-79%)","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:98964","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000483","HPO_Synonym__c":"Abnormal curving of the cornea or lens of the eye; Astigmatism","HPO_Name__c":"Astigmatism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98964","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability of the cornea to respond to stimulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012155","HPO_Synonym__c":"Corneal hypaesthesia; Corneal hypesthesia; Reduced corneal sensation","HPO_Name__c":"Decreased corneal sensation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98964","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A severe form of myopia with greater than -6.00 diopters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011003","HPO_Synonym__c":"Severe myopia; Severe myopia (> -6.00 diopters); Severe near sightedness; Severely close sighted; Severely near sighted","HPO_Name__c":"High myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98964","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal accumulation of fluid and swelling of the stroma of cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012040","HPO_Name__c":"Corneal stromal edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98964","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025337","HPO_Synonym__c":"Red eye; Red eyes","HPO_Name__c":"Red eye","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98964","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["biber-haab-dimmer dystrophy"," cdl1"," classic lattice corneal dystrophy"," lattice corneal dystrophy type 1"," lcd1"," lcdi"]}