Edit concept Question Editor Create issue ticket

Coloboma of Choroid and Retina

Congenital retinal arteriovenous communication


  • Temporal dragging of the optic disc and straightening of the temporal arcade vessels, thus reducing the angle between them, were present.[ijo.in]
  • ORPHA:98945 Synonym(s): - Prevalence: - Inheritance: - Age of onset: - ICD-10: Q14.8 OMIM: - UMLS: - MeSH: - GARD: 1436 MedDRA: - The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Results All symptomatic siblings were affected by manifest congenital nystagmus, poor visual acuity, and progressive visual field impairment in both eyes, bilaterally presenting macular coloboma associated with three different RP patterns: classic RP;[scite.ai]
Down Syndrome
  • It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.[orpha.net]
  • Congenital macular coloboma in Down Syndrome. Ann Ophthalmol 1990; 22: 222-223 [ PUBMED ] [Figure - 1], [Figure - 2][ijo.in]
  • Bilatral congenital macular coloboma in a boy with Down syndrome. Eur J Ophthalmol . 2004;14(6):565–567. 12. Yamaguchi K, Tamai M. Congenital macular coloboma in Down syndrome. Ann Ophthalmol . 1990;22(6):222–223.[dovepress.com]
  • It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. Last updated: 7/6/2017 This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person.[rarediseases.info.nih.gov]
  • Research has shown that zebra fishes with genetic mutations resulting in defects in this enzyme are functionally deficient in retinoic acid and develop ocular coloboma.[eyewiki.aao.org]


  • The diagnosis of coloboma by an ophthalmologist should prompt a careful systemic workup and family history. Support provided by the Eye Tumor Research Foundation, Philadelphia, PA (CLS). The authors have no financial interests to disclose.[retinatoday.com]


  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.de]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Treatment - Coloboma of choroid and retina Not supplied. Resources - Coloboma of choroid and retina Not supplied.[checkorphan.org]
  • 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.[rarediseases.info.nih.gov]


  • Diagnosis - Coloboma of choroid and retina These home medical tests may be relevant to Coloboma of choroid and retina: * Vision & Eye Health: Home Testing: o Home Eye Tests o Home Vision Tests Prognosis - Coloboma of choroid and retina Not supplied.[checkorphan.org]
  • Prognosis [ 9 ] The prognosis for vision depends on the severity and location of the coloboma (particularly in relation to the optic nerve, macula and maculopapular bundle) and on any complications such as retinal detachment or amblyopia.[patient.info]
  • Prognosis The prognosis for vision depended on the phenotype of the better eye  Microphthalmos with cyst has the worst prognosis  Coloboma with microcornea and microphthalmos a poor prognosis  Coloboma with only microcornea has an intermediate prognosis[slideshare.net]
  • Furthermore, the structure of the fixation point has a critical influence on the visual acuity and prognosis of congenital macular coloboma. Disclosure The authors report no conflicts of interest in this work. References 1.[dovepress.com]
  • 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.[rarediseases.info.nih.gov]


  • Review of etiologies. Apropos of a case. J Fr Ophtalmol 1996;19:58-63. [Figure 1], [Figure 2][ijo.in]
  • Etiology FHHNCOI is caused by mutations in CLDN19 (1p34.2) which encodes claudin-19, a protein member of the claudin family which is highly expressed in the tight junctions of the thick ascending limb of Henle's loop, as well as in the retinal epithelium[orpha.net]
  • On the basis of these cases, a defect in the closure of the embryonic fissure is the most plausible etiology of the optic pit.[scielo.br]
  • Postel EAPulido JSMcNamara JAJohnson MW The etiology and treatment of macular detachment associated with optic nerve pits and related anomalies. Trans Am Ophthalmol Soc 1998;9673- 88 PubMed Google Scholar 10.[jamanetwork.com]
  • These categories are not mutually exclusive because the presumed etiology often dictates which treatment modality is most appropriate. Figure 2.[retinalphysician.com]


  • Summary Epidemiology To date, approximately 72 cases have been described in the literature. Clinical description FHHNCOI has a childhood onset. The initial symptoms may include recurrent urinary tract infections, polyuria and polydipsia.[orpha.net]
  • To give a better estimate of the prevalence of chorioretinal coloboma, a large epidemiology study needs to be carried out using similar methodology.[journalofoptometry.org]
  • Vision can be improved with glasses, contact lenses or even laser eye surgery but may be limited if the retina is affected or there is amblyopia. [5] Epidemiology [ edit ] The number of cases is around 0.5 to 0.7 per 10,000 births, making it a relatively[en.wikipedia.org]
  • As macular chorioretinal coloboma is seldom reported in the literature, no epidemiologic or demographic data are currently available. Currently, only isolated case reports, and no case series have been published.[meajo.org]
Sex distribution
Age distribution


  • Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any[books.google.de]
  • Pathophysiology In the normal eye, optic fissure closes 33 to 40 days after conception.[slideshare.net]
  • A review of pathophysiology, diagnosis and treatment Ethan H. Tittler, BA • Khizer R. Khaderi, MD, MPH • Alfredo A. Sadun, MD, PhD Optic disc pit is a rare, congenital excavation of the optic nerve head, first described by Wiethe 1 in 1882.[retinalphysician.com]
  • In the future, advances in imaging technology may allow further understanding of the pathophysiology in this unusual condition. Correspondence: Dr. Han, Medical College of Wisconsin Eye Institute, 925 N 87th St, Milwaukee, WI 53226 ( dhan@mcw.edu ).[jamanetwork.com]


  • Prevention - Coloboma of choroid and retina Not supplied.[checkorphan.org]
  • Relaxing microsphincterotomies are important to prevent an excessively inferiorly positioned aperture after pupilloplasty.[crstoday.com]
  • Also, long-standing retinal detachments start to develop scarring, called ‘proliferative vitreoretinopathy’ (PVR) that can prevent re-attachment.[cehjournal.org]
  • Loss of Bcl6 function leads to colobomas along with up-regulation of p53, a previously known Bcl6 target, and an increase in the number of apoptotic cells in the retina, demonstrating that Bcl6 plays a critical role in preventing apoptosis in the retina[repositories.lib.utexas.edu]
  • Early intervention for a young child can help prevent learning problems. See “Home care” below for more information. Home care Follow the healthcare provider’s instructions for ways to help your child’s vision.[fairview.org]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!