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":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":8,"sourceGroups":{"omim":4,"orphanet":0,"published":4}},"features":[{"hpoId":"HP:0001131","label":"Corneal dystrophy","primary":false},{"hpoId":"HP:0009926","label":"Epiphora","primary":false},{"hpoId":"HP:0000613","label":"Photophobia","primary":false},{"hpoId":"HP:0007856","label":"Punctate opacification of the cornea","primary":false},{"hpoId":"HP:0000495","label":"Recurrent corneal erosions","primary":false},{"hpoId":"HP:0007663","label":"Reduced visual acuity","primary":false}],"ledeHtml":"Meesmann corneal dystrophy is an eye disease that affects the cornea, which is the clear front covering of the eye. This condition is characterized by the formation of tiny round cysts in the outermost layer of the cornea, called the corneal epithelium. This part of the cornea acts as a barrier to help prevent foreign materials, such as dust and bacteria, from entering the eye.","mondoId":"MONDO:0007379","records":[{"frequencyKind":"reported","key":"167ff6d5061afe50f55f704f1e8e94ba3a1f424850cefcf0b1b10600d6d4da18","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:122100","disease_name":"Meesmann corneal dystrophy 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0007663","is_excluded":false,"label":"Reduced visual acuity","onset_id":null,"reference":"OMIM:122100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"64f6897c0707f3412e32c7b56c4a60af0b74e2bf29c3c12c713f0477de4fda47","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:122100","disease_name":"Meesmann corneal dystrophy 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000613","is_excluded":false,"label":"Photophobia","onset_id":null,"reference":"OMIM:122100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"726806d77c421253411668463703a0aee7772454de250eda259f59c6f75f90eb","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:618767","disease_name":"Meesmann corneal dystrophy 2","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000613","is_excluded":false,"label":"Photophobia","onset_id":null,"reference":"PMID:26788030","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"941c8add44684364ab9ec9d32559395fbc66a44bf132f4cbc9ab2876acf809a7","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:122100","disease_name":"Meesmann corneal dystrophy 1","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001131","is_excluded":false,"label":"Corneal dystrophy","onset_id":null,"reference":"PMID:2217484","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a2d3e1a246df4d8ab4ea2fa8f5baf360bcc00aba99a2b2a8e80f08a816aaa8a7","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:618767","disease_name":"Meesmann corneal dystrophy 2","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0009926","is_excluded":false,"label":"Epiphora","onset_id":null,"reference":"PMID:26788030","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"cdbc780c497b962d830cff473b6f371887115658abeb41ce7814fe898fdee637","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:122100","disease_name":"Meesmann corneal dystrophy 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0009926","is_excluded":false,"label":"Epiphora","onset_id":null,"reference":"OMIM:122100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"e8d51898cb754cc03eff7ae419e8d672a5c8b7e0feaf65822beaa33cd7d39bfc","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:122100","disease_name":"Meesmann corneal dystrophy 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0007856","is_excluded":false,"label":"Punctate opacification of the cornea","onset_id":null,"reference":"OMIM:122100","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"eedbb2ffdd9f173f385a74d4fddbe8fa9bb0a2ae91af187ada8a6c337dc9c87b","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:618767","disease_name":"Meesmann corneal dystrophy 2","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000495","is_excluded":false,"label":"Recurrent corneal erosions","onset_id":null,"reference":"PMID:26788030","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":"Meesmann corneal dystrophy can result from mutations in either the KRT12 gene or the KRT3 gene. These genes provide instructions for making proteins called keratin 12 and keratin 3, which are found in the corneal epithelium. The two proteins interact to form the structural framework of this layer of the cornea. Mutations in either the KRT12 or KRT3 gene weaken this framework, causing the corneal epithelium to become fragile and to develop the cysts that characterize the disorder. The cysts likely contain clumps of abnormal keratin proteins and other cellular debris. When the cysts rupture, they cause eye irritation and the other symptoms of Meesmann corneal dystrophy.
","key":"forms","title":"What causes Meesmann corneal dystrophy?"},{"bodyHtml":"In people with Meesmann corneal dystrophy, cysts can appear as early as the first year of life. They usually affect both eyes and increase in number over time. The cysts usually do not cause any symptoms until late adolescence or adulthood, when they start to break open (rupture) on the surface of the cornea and cause irritation. The resulting symptoms typically include increased sensitivity to light (photophobia), twitching of the eyelids (blepharospasm), increased tear production, the sensation of having a foreign object in the eye, and an inability to tolerate wearing contact lenses. Some affected individuals also have temporary episodes of blurred vision.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"meesmann-corneal-dystrophy","sourceDocuments":[{"name":"Meesmann corneal dystrophy","reviewed":"2012-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:12.066534+00:00","label":"Causes","pageSha256":"7a792c393f5ba03230b9c892002876c594f88cb661c0b9f707d2b386d675366f","sourceUrl":"https://medlineplus.gov/genetics/condition/meesmann-corneal-dystrophy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/meesmann-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":"Meesmann corneal dystrophy"},"schemaVersion":1}