Coloboma

Coloboma
Other names: Ocular coloboma, coloboma of the eye
Coloboma in a 16-year-old female
SpecialtyOphthalmology
SymptomsMissing part of the eye, vision loss, sensitivity to light[1]
ComplicationsAmblyopia, cataracts, glaucoma[1]
Usual onsetPresent at birth[1]
DurationLife long[1]
Risk factorsFamily history, alcohol use during pregnant[1]
Diagnostic methodEye exam[1]
TreatmentGlasses, contact lenses, surgery[1]
Frequency1 in 10,000 people[2]

A coloboma is a condition were part of the tissue that makes up the lower part of the eye is missing.[1][2] It is present at birth.[1] Symptoms may include vision loss or sensitivity to light.[1] One or both eyes may be affected.[1] Complications may include amblyopia.[1]

It occur as a result of abnormal Eye development due to genetic or environmental problems.[1][2] Risk factors include alcohol use during pregnant.[1] It can affect various parts of the eye including the iris, lens, eyelid, and retina.[1] Diagnosis is by eye exam.[1]

Treatment may include glasses, contact lenses, or surgery.[1] Coloboma affects about one in every 10,000 people.[2] Descriptions of the condition may date back to Ancient Mesopotamia.[3]

Signs and symptoms

Iris coloboma of the right eye in a 10-month-old (left side of image). The pupil cannot contract smaller than pictured, but may be able to dilate in low light.

Visual effects may be mild to more severe depending on the size and location of the coloboma. If, for example, only a small part of the iris is missing, the vision may be normal; when a large part of the retina or (especially) optic nerve is missing, the vision may be poor. Commonly posterior colobomata affect the inferior retina, with resultant deficit in the superior visual field. Other conditions can be associated with a coloboma. Sometimes, the eye may be reduced in size, a condition called microphthalmia. Glaucoma, nystagmus, scotoma, or strabismus may also occur.

Other ocular malformations that include coloboma or are related to it:

  • CHARGE syndrome, a term that came into use as an acronym for the set of unusual congenital features seen in a number of newborn children.[4] The letters stand for: coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness. Although these features are no longer used in making a diagnosis, the name has remained.
  • Cat eye syndrome, caused by the short arm (p) and a small section of the long arm (q) of human chromosome 22 being present three (trisomic) or four times (tetrasomic) instead of the usual two times. The term "cat eye" was coined because of the particular appearance of the vertical colobomas in the eyes of some patients.
  • Patau syndrome (trisomy 13), a chromosomal abnormality that can cause a number of deformities, some of which include structural eye defects, including microphthalmia, Peters anomaly, cataract, iris and/or fundus coloboma, retinal dysplasia or retinal detachment, sensory nystagmus, cortical visual loss, and optic nerve hypoplasia.
  • Treacher Collins syndrome, autosomal dominant syndrome caused by mutation of TCOF1. Coloboma is part of a set of characteristic facies that features craniofacial malformations, such as downslanting eyes, ear anomalies, or hypoplasia of zygomatic bone and jaw (micrognathia).
  • Tilted disc syndrome: An unusual congenital malformation associated with myopic astigmatism characterized by tilting of the intraocular tip of the optic nerve (the optic disc), also known as Fuchs coloboma.

Causes

Coloboma can be associated with a mutation in the PAX2 gene.[5]

Eye abnormalities have been shown to occur in over 90% of children with fetal alcohol syndrome.[6]

Diagnosis

Typically a coloboma appears oval- or comet-shaped with round end towards the centre. There may be a few vessels (retinal or choroidal) at the edges. The surface may have irregular depression.

  • Right fundus with small coloboma at the inferior edge of the nerve that is vertically elongated.
    Right fundus with small coloboma at the inferior edge of the nerve that is vertically elongated.
  • Type 5 disc involvement in coloboma of choroid-left eye
    Type 5 disc involvement in coloboma of choroid-left eye

Treatment

Coloboma of the iris may be treated in a number of ways. A simple cosmetic solution is a specialized cosmetic contact lens with an artificial pupil aperture. Surgical repair of the iris defect is also possible. Surgeons can close the defect by stitching in some cases.

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.[7]

Epidemiology

The number of cases is around 0.5 to 0.7 per 10,000 births, making it a relatively rare condition.[8]

Society and culture

Word origin

The term is from the Greek κολόβωμα, meaning defect.[9]

Notable cases

Notable people with coloboma include actor John Ritter, model/actress Karolina Wydra, The New York Times columnist Andrew Ross Sorkin, tennis player Arnaud Clément, pop singer songwriter Lachi, and George Soros. Madeleine McCann, a young girl who went missing in Portugal in 2007, does not have the condition. She has a freckle under her pupil. Her unique eye was a large part of her parents media appeal to find her.

References

  1. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 "Coloboma | National Eye Institute". www.nei.nih.gov. Archived from the original on 9 October 2021. Retrieved 24 January 2022.
  2. 1 2 3 4 "Coloboma: MedlinePlus Genetics". medlineplus.gov. Archived from the original on 19 October 2021. Retrieved 25 January 2022.
  3. ↑ Diagnoses in Assyrian and Babylonian Medicine: Ancient Sources, Translations, and Modern Medical Analyses. University of Illinois Press. 18 July 2005. p. 197. ISBN 978-0-252-02956-1. Archived from the original on 25 January 2022. Retrieved 25 January 2022.
  4. ↑ Pagon RA, Graham JM, Zonana J, Yong SL (1981). "Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association". J. Pediatr. 99 (2): 223–7. doi:10.1016/S0022-3476(81)80454-4. PMID 6166737.
  5. ↑ Cunliffe HE, McNoe LA, Ward TA, et al. (October 1998). "The prevalence of PAX2 mutations in patients with isolated coloboma or colobomata associated with urogenital anomalies". J. Med. Genet. 35 (10): 806–12. doi:10.1136/jmg.35.10.806. PMC 1051454. PMID 9783702.
  6. ↑ "Eye abnormalities in fetal alcohol syndrome". Ulster Med J. 78: 164–5. Sep 2009. PMC 2773598. PMID 19907681.
  7. ↑ "Coloboma". RNIB.org.uk. Royal National Institute of Blind People. Archived from the original on April 28, 2018. Retrieved January 7, 2021.
  8. ↑ Hornby, SJ; Adolph, S; Gilbert, CE; et al. (Mar 2000). "Visual acuity in children with coloboma: clinical features and a new phenotypic classification system". Ophthalmology. 107 (3): 511–20. doi:10.1016/S0161-6420(99)00140-2. PMID 10711890.
  9. ↑ "coloboma". Mosby's Medical, Nursing & Allied Health Dictionary (4th ed.). Mosby Year-Book. 1994. p. 361. ISBN 9780801672255.
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