Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
"},"coverage":{"countRecords":6,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":8,"sourceGroups":{"omim":0,"orphanet":0,"published":8}},"features":[{"hpoId":"HP:0007709","label":"Band-shaped corneal dystrophy","primary":false},{"hpoId":"HP:0001131","label":"Corneal dystrophy","primary":false},{"hpoId":"HP:0200020","label":"Corneal erosion","primary":false},{"hpoId":"HP:0000501","label":"Glaucoma","primary":false},{"hpoId":"HP:0011487","label":"Increased corneal thickness","primary":false},{"hpoId":"HP:0000613","label":"Photophobia","primary":false},{"hpoId":"HP:0000529","label":"Progressive vision loss","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false}],"ledeHtml":"Congenital stromal corneal dystrophy is an inherited eye disorder that primarily affects the clear layer that covers the front surface of the eye (cornea). Affected individuals have multiple corneal opacities, which are damaged areas that cause the cornea to appear cloudy or opaque rather than transparent. These corneal opacities form in the thickest layer of the cornea (stroma) and are typically present in both eyes (bilateral) from birth or soon thereafter. The corneas of affected individuals may also be thicker than normal and have an irregular surface. These corneal changes lead to a loss of visual acuity, which can impair a person’s ability to see clearly. Without treatment, visual acuity can worsen over time.","mondoId":"MONDO:0012401","records":[{"frequencyKind":"reported","key":"4b405568e0ee7aefd87547c8b5e4d19d338c10d71be6971ace59723fb61bf68e","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:610048","disease_name":"Corneal dystrophy, congenital stromal","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0011487","is_excluded":false,"label":"Increased corneal thickness","onset_id":null,"reference":"PMID:15671264","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"4d1f4014bdf7e8af353c81bc9f50192da3d1c828deba28bf18aa4b4b171bbb56","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:610048","disease_name":"Corneal dystrophy, congenital stromal","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0007709","is_excluded":false,"label":"Band-shaped corneal dystrophy","onset_id":null,"reference":"PMID:15671264","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"505f00c1b3c180df139214b250246ac83e8a08aa85973711a59f088b829182e0","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:610048","disease_name":"Corneal dystrophy, congenital stromal","evidence":"PCS","frequency_raw":"0/11","hpo_id":"HP:0200020","is_excluded":true,"label":"Corneal erosion","onset_id":null,"reference":"PMID:15671264","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6c5777e47891109f8938c5da7fdac33592e63df319977610922f835ea428dc83","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:610048","disease_name":"Corneal dystrophy, congenital stromal","evidence":"IEA","frequency_raw":"3/11","hpo_id":"HP:0000501","is_excluded":false,"label":"Glaucoma","onset_id":null,"reference":"PMID:15671264","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"96c85ca51e17f3875eeba28f71631634735c3830291f9a32eae95a8993a04bab","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:610048","disease_name":"Corneal dystrophy, congenital stromal","evidence":"PCS","frequency_raw":"0/11","hpo_id":"HP:0000613","is_excluded":true,"label":"Photophobia","onset_id":null,"reference":"PMID:15671264","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a19c2d6777a592612bae01315c913dfe3107b190fc44c60818b078c0763e9467","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:610048","disease_name":"Corneal dystrophy, congenital stromal","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000529","is_excluded":false,"label":"Progressive visual loss","onset_id":null,"reference":"PMID:15671264","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e3f94e22ac06d47a4376688ece6e5a145554b01d1cd70e523d2c80e1899dfd42","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:610048","disease_name":"Corneal dystrophy, congenital stromal","evidence":"IEA","frequency_raw":"4/11","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"PMID:15671264","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e836cf4c5fdaf55d890841b6a27d0566742800067e762ad11ddc0c410c840ab4","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:610048","disease_name":"Corneal dystrophy, congenital stromal","evidence":"PCS","frequency_raw":"11/11","hpo_id":"HP:0001131","is_excluded":false,"label":"Corneal dystrophy","onset_id":"HP:0003623","reference":"PMID:15671264","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"Congenital stromal corneal dystrophy is caused by variants (also called mutations) in the DCN gene. This gene provides instructions for making a protein called decorin, which is involved in the organization of collagens. Collagens are proteins that strengthen and support connective tissues such as skin, bone, tendons, and ligaments. Collagens also play an important role in the cornea. Bundles of collagen called fibrils must be strictly organized for the cornea to be transparent. Decorin helps ensure that these collagen fibrils are the right size and are regularly spaced.
The variants in the DCN gene that cause congenital stromal corneal dystrophy lead to the production of an abnormal version of decorin that does not function as it should. Researchers believe that this abnormal protein accumulates in the cornea, which causes the cornea to become cloudy. The accumulation of abnormal decorin may also lead to the other eye abnormalities seen in people with congenital stromal corneal dystrophy.
","key":"forms","title":"What causes Congenital stromal corneal dystrophy?"},{"bodyHtml":"Congenital stromal corneal dystrophy is often associated with additional eye abnormalities, including eyes that do not look in the same direction (strabismus) and "lazy eye" (amblyopia). Less commonly, affected individuals may have involuntary eye movements (nystagmus) or increased sensitivity to light (photophobia).
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"congenital-stromal-corneal-dystrophy","sourceDocuments":[{"name":"Congenital stromal corneal dystrophy","reviewed":"2025-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:39.683058+00:00","label":"Causes","pageSha256":"8eb56f7069bc84354393fce8033e9eb3f0259fd929bc5d8dd2223d70283cde39","sourceUrl":"https://medlineplus.gov/genetics/condition/congenital-stromal-corneal-dystrophy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/congenital-stromal-corneal-dystrophy"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Congenital stromal corneal dystrophy"},"schemaVersion":1}