Rare Ophthalmology News

Disease Profile

Retinochoroidal coloboma

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

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Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Coloboma of choroid and retina; Retinal Coloboma; Choroidal coloboma

Summary

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]

Treatment

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 detachmentchoroidal neovascularization, cataracts, and glaucoma.

Organizations

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

      Learn more

      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.

          References

          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; https://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; https://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. https://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. https://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; https://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; https://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; https://www.aao.org/eye-health/diseases/what-is-cataract-surgery.
          8. Kierstan Boyd. Glaucoma Treatment. American Academy of Ophthalmology. Jan 10, 2015; https://www.aao.org/eye-health/diseases/glaucoma-treatment.

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