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

Retinochoroidal coloboma


Other Names:
Coloboma of choroid and retina; Retinal Coloboma; Choroidal coloboma
Retinochoroidal coloboma is an eye abnormality that occurs before birth. It is characterized by missing pieces of tissue in both the retina (the light-sensitive tissue lining the back of the eye) and choroid (the blood vessel layer under the retina). In many cases, retinochoroidal coloboma does not cause symptoms. However, complications such as retinal detachment may occur at any age. Other possible complications include loss of visual clarity or distorted vision; cataract; and abnormal blood vessel growth in the choroid (choroidal neovascularization). Retinochoroidal coloboma can involve one or both eyes, and may occur alone or in association with other birth defects. It can be inherited or can occur sporadically.[1][2][3]
Last updated: 10/15/2015
There is no cure for retinochoroidal coloboma. Treatment varies depending on the conditions or complications that present in each individual. In some instances, retinochoroidal colobomas do not cause any symptoms and treatment is not necessary. Complications that commonly occur include:[4][3]
Treatment of retinal detachment depends on the severity of the condition. For smaller retina tears, laser surgery (photocoagulation) or freezing treatment (cryopexy) may be utilized to induce a scar that helps to secure the retina to the eye wall. For larger tears or a detachment, surgery is typically needed to place the retina back into its proper position. Options may include: scleral buckle, pneumatic retinopexy, or vitrectomy.[3][5] Surgical treatment of retinal detachment in individuals with retinochoroidal coloboma can be challenging and has variable success.[4][3]

Treatment for choroidal neovascularization may include administration of medications that can block the abnormal growth of blood vessels (anti-VEGF treatment), thermal laser treatment to destroy abnormal blood vessels, and photodynamic therapy to damage unwanted blood vessels.[6]

Cataracts are usually treated surgically via a technique called phacoemulsification. In this procedure, an instrument is used to break up and remove the cloudy lens. A lens implant is then placed to allow light to pass through and focus properly on the retina.[7]

Glaucoma treatment varies and may include medication or surgery. Various surgical techniques can be utilized including: laser trabeculoplasty, laser iridotomy, peripheral iridectomy, trabeculectomy, and aqueous shunt surgery. The goal of surgery in glaucoma is to reduce the pressure on the eye.[8]

The American Academy of Ophthalmology provides information and videos on treatment for retinal detachment, choroidal neovascularization, cataracts, and glaucoma.
Last updated: 8/10/2016
The visual outlook (prognosis) for people with colobomas varies greatly and depends on the severity and extent of involvement. In many cases, retinochoroidal colobomas do not cause any symptoms. However, complications are not uncommon and often cause decreased visual acuity or distorted vision, especially when they extend to the macula or optic disc. A complication can develop at any age throughout life.[3] The most common complications are retinal detachment (in up to 43% of cases) and choroidal neovascularization (abnormal growth of new blood vessels in the choroid).[3]

Visual acuity has been found to be worse in people who have associated structural abnormalities (particularly retrobulbar cyst) or retinal detachment. Colobomas without microcornea (abnormally small cornea) or microphthalmia (abnormally small eyes) reportedly have the best visual prognosis, while complex colobomas associated with microphthalmia and retrobulbar cysts have the worst visual prognosis.[4]

Early recognition and treatment of any associated complications, including cataracts, glaucoma, and retinal detachment, is important.[4]
Last updated: 8/10/2016

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

  • ClinicalTrials.gov lists trials that are related to Retinochoroidal coloboma. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Screening Study for the Evaluation and Diagnosis of Potential Research Participants which may be of interest to you.

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

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

  • The American Academy of Ophthalmology Web site has an information page on Retinochoroidal coloboma. Their Web site is dedicated to educating people about eye diseases and conditions and the preservation of eye health.
  • Genetics Home Reference (GHR) contains information on Retinochoroidal coloboma. This website is maintained by the National Library of Medicine.

In-Depth Information

  • 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Retinochoroidal coloboma. 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

  • Can this disease advance during life? See answer

  • How rare is retinochoroidal coloboma? What percentage of people with ocular coloboma have retinochoroidal? See answer


  1. Gupta A, Narang S, Gupta V, Sharma A, Pandav SS, Singh P. Successful closure of spontaneous scleral fistula in retinochoroidal coloboma. Arch Ophthalmol. 2001 Aug;119(8):1220-1; http://www.ncbi.nlm.nih.gov/pubmed/1483101. Accessed 1/11/2013.
  2. Dutton GN. Congenital disorders of the optic nerve: excavations and hypoplasia. Eye (Lond). 2004 Nov;18(11):1038-48; http://www.ncbi.nlm.nih.gov/pubmed/15534588. Accessed 1/11/2013.
  3. Barnard S, Shneor E, Brauner J, Millodot M, Gordon-Shaag A. Bilateral chorioretinal coloboma discovered with ultra-wide field retinal imaging. J Optom. 2012; 5(3):150-154. http://www.journalofoptometry.org/en/bilateral-chorioretinal-coloboma-discovered-with/articulo/90149576/.
  4. Venincasa VD. Clinical and Echographic Features of Retinochoroidal and Optic Nerve Colobomas. Invest Ophthalmol Vis Sci. June, 2015; 56(6):3615-3620. http://www.ncbi.nlm.nih.gov/pubmed/?term=PMC4464105.
  5. Kierstan Boyd. Retinal Detachment: Torn or Detached Retina. In: Raj K Maturi. American Academy of Ophthalmology. March 1, 2016; http://www.aao.org/eye-health/diseases/detached-torn-retina-treatment.
  6. Kierstan Boyd. Choroidal Neovascular Membranes Treatment. In: Robert H Janigian Jr. American Academy of Ophthalmology. October 14, 2015; http://www.aao.org/eye-health/diseases/choroidal-neovascular-membranes-treatment.
  7. Kierstan Boyd. Cataract Surgery. In: Elena M Jimenez. American Academy of Ophthalmology. March 1, 2014; http://www.aao.org/eye-health/diseases/what-is-cataract-surgery.
  8. Kierstan Boyd. Glaucoma Treatment. American Academy of Ophthalmology. Jan 10, 2015; http://www.aao.org/eye-health/diseases/glaucoma-treatment.