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

Renal coloboma syndrome


Other Names:
Papillorenal syndrome; Optic nerve coloboma with renal disease; Optic coloboma, vesicoureteral reflux, and renal anomalies; Papillorenal syndrome; Optic nerve coloboma with renal disease; Optic coloboma, vesicoureteral reflux, and renal anomalies; Coloboma of optic nerve with renal disease See More
Categories:
Renal coloboma syndrome is a rare condition that affects kidney and eye development. It is characterized by small underdeveloped kidneys, malformation of the optic nerve, and sometimes a hole (coloboma) in the retina. People with renal coloboma syndrome may progress to end stage kidney disease and some people experience vision loss. Less common symptoms include vesicoureteral reflux, multiple kidney cysts, loose joints, and mild hearing loss.[1] The syndrome has an autosomal dominant pattern of inheritance and can be caused by mutations in the PAX2 gene. In about half of cases, the underlying cause can not be determined.[1]
Last updated: 1/6/2012

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
80%-99% of people have these symptoms
Optic nerve dysplasia 0001093
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
30%-79% of people have these symptoms
Multicystic kidney dysplasia 0000003
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Renal dysplasia 0000110
Renal hypoplasia
Small kidneys
Underdeveloped kidneys
[ more ] 		0000089
Stage 5 chronic kidney disease 0003774
Vesicoureteral reflux 0000076
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
5%-29% of people have these symptoms
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Edema
Fluid retention
Water retention
[ more ] 		0000969
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Horseshoe kidney
Horseshoe kidneys
0000085
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Lens luxation
Dislocated lens
0012019
Macular degeneration 0000608
Macular hyperpigmentation 0011509
Nephrolithiasis
Kidney stones
0000787
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic nerve coloboma 0000588
Renal malrotation
Abnormal rotation of the kidneys
0004712
Retinal coloboma
Hole in the back of the eye
0000480
Retinal detachment
Detached retina
0000541
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Percent of people who have these symptoms is not available through HPO
Arnold-Chiari type I malformation 0007099
Autosomal dominant inheritance 0000006
Chorioretinal atrophy 0000533
Gliosis 0002171
Hyperextensible skin
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] 		0000974
Infantile onset
Onset in first year of life
Onset in infancy
[ more ] 		0003593
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] 		0001388
Microphthalmia
Abnormally small eyeball
0000568
Morning glory anomaly 0025514
Orbital cyst
Cyst of eye socket
0001144
Proteinuria
High urine protein levels
Protein in urine
[ more ] 		0000093
Seizure 0001250
Sensorineural hearing impairment 0000407
Soft skin 0000977
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

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

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnosis includes conditions where colobomas and renal anomalies have been identified such as CHARGE syndrome and Joubert syndrome with oculorenal defect (see these terms). However these disorders generally have other characteristic findings not found in RCS.
Visit the Orphanet disease page for more information.

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

  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

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

Organizations Providing General Support

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

  • Genetics Home Reference (GHR) contains information on Renal coloboma syndrome. This website is maintained by the National Library of Medicine.
  • The National Eye Institute (NEI) provides more information on anophthalmia and microphthalmia in general. The NEI was created to conduct research, distribute health information, and support other programs that protect and prolong the vision of Americans. Click on the above link to view information on this topic.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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 Renal coloboma syndrome. 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.

  1. Renal coloboma syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/renal-coloboma-syndrome. Accessed 1/6/2012.