National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Amyloidosis corneal


Other Names:
Corneal amyloidosis; GDLD; CDGDL; Corneal amyloidosis; GDLD; CDGDL; Gelatinous drop-like corneal dystrophy; Corneal dystrophy, gelatinous drop-like; Amyloid corneal dystrophy, Japanese type; Corneal dystrophy, Lattice type 3; Lattice corneal dystrophy type3 See More
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 98957

Definition
Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.

Epidemiology
Worldwide prevalence of this form of corneal dystrophy is not known. Cases have been reported in patients from India, Tunisia, Vietnam, Turkey, the USA and other countries, but most cases seem to be in Japan where prevalence is estimated to be 1/300,000.

Clinical description
Lesions generally develop in the first or second decade of life. The clinical features include severe photophobia, tearing, a corneal foreign body sensation and severe progressive loss of vision.

Etiology
Gelatinous drop-like corneal dystrophy is mostly caused by mutations in the TACSTD2 gene (1p32) encoding tumor-associated calcium signal transducer 2. More than 20 mutations have been reported but some patients have been found not to have a mutation in this gene, which suggests genetic heterogeneity.

Diagnostic methods
Fusiform deposits similar to those in lattice corneal dystrophy (LCD, see this term) in the deeper stroma may be found by light microscopy.

Genetic counseling
An autosomal recessive pattern of inheritance has been reported.

Management and treatment
An unsatisfactory response has been observed to both lamellar keratoplasty (LKP) and penetrating keratoplasty (PK), as well as to a superficial keratectomy, since amyloid recurs in the graft within about 5 years.

Visit the Orphanet disease page for more resources.
Last updated: 5/1/2012

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Blurred vision 0000622
Childhood onset
Symptoms begin in childhood
0011463
Corneal dystrophy 0001131
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] 		0000613
Reduced visual acuity
Decreased clarity of vision
0007663
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Amyloidosis Awareness is an illustrated booklet for patients and physicians developed by Amyloidosis Support Groups Inc. Versions of the booklet are also available in Spanish and Portuguese.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers. 
  • The National Eye Institute (NEI) was established by Congress in 1968 to protect and prolong the vision of the American people. Click on the link to view information on this topic. 
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Amyloidosis corneal. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have lattice corneal dystrophy type 1 and have had light sensitivity and astigmatism for a number of years Over the past 18 months my vision has become much worse. Is any current research going on that relates to lattice corneal dystrophy? Also, have there been any recent articles published in medical journals about this disease? Since there are no other cases of corneal dystrophy in my family, yet this is a genetic disease, I'm additionally interested in finding out more about genetic testing. See answer