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Lens Coloboma

A lens coloboma is a congenital anomaly of the lens due to the absence of zonular attachments, causing a thicker lenticular area, but a ciliary body, choroid, iris, optic nerve and eyelid abnormalities may coexist. It is usually located in the inferior nasal quadrant of the eye and is caused by the failure of an embryonic fissure to close (due to toxic or inflammatory factors) during the third or fourth months of intrauterine life, but genetic transmission has also been postulated.


A lens coloboma presents as a wedge-shaped abnormality that is due to the existence of a peripheral flattening, indentation or defect, usually located in the inferomedial portion of the lens, but superior nasal quadrant involvement has also been described [1]. The structure has an equatorial notch [2]. This can be an only anomaly, being called a primary coloboma, or underlying structures like the uvea may also be affected- and then it is called a secondary coloboma. A typical coloboma occurs at the exact same location where an embryonic fissure is present, whereas an atypical one does not [1] and may be caused by a ciliary body tumor like a medulloepithelioma or following congenital glaucoma surgery [3]. The neighboring area of the lens may become opaque and the lens capsule may become thicker.

The patient presents with visual abnormalities caused by astigmatism, that is, in turn, due to the lens shape abnormality [4]. Lens contraction and dilation are also impaired, due to the absence or loose character of zonules in the affected area.

A lens coloboma may be associated with other ocular abnormalities: retinal detachment, iris, optic disk or choroid colobomas. Abnormalities may also be bilateral, but usually, only one eye is affected [5].

  • After making a 3 mm limbal incision, the colobomatous lens was removed by anterior continuous curvilinear capsulorhexis and lens aspiration.[ncbi.nlm.nih.gov]
  • We aspire to work constantly on improving and innovating new ideas and implementing new concepts in the manufacturing of Artificial Eyes.[indiamart.com]
  • Transactions of the American Ophthalmological Society 17: 328-340, 1919 Phacoemulsification and aspiration in a case of congenital lens coloboma .[eurekamag.com]
  • Phacoemulsification along with lens aspiration and IOL implantation corrects the severe refraction error in these patients and increase visual acuity.[escrs.org]
  • Epinuclear fragments were removed, and complete cortical aspiration was performed. A three-piece IOL was implanted and found to be stable. Repair of the iris coloboma was done by pupilloplasty, yielding a regular, round pupil.[millennialeye.com]
  • Encyclopedia) Eye redness (Medical Encyclopedia) Fluorescein angiography (Medical Encyclopedia) Fluorescein eye stain (Medical Encyclopedia) Heterochromia (Medical Encyclopedia) Ophthalmoscopy (Medical Encyclopedia) Orbit CT scan (Medical Encyclopedia) Orbital pseudotumor[icdlist.com]
  • NIH: National Eye Institute Anisocoria (Medical Encyclopedia) Choroidal dystrophies (Medical Encyclopedia) Coloboma of the iris (Medical Encyclopedia) Episcleritis (Medical Encyclopedia) Eye and orbit ultrasound (Medical Encyclopedia) Eye burning - itching[icdlist.com]
  • The purpose of this report is to describe the association of lens coloboma with an adjacent cyst in the ciliary body and to suggest that ciliary body cysts may be an under-recognized cause of congenital lens coloboma.[ncbi.nlm.nih.gov]
  • Evaluation of the right eye on slit lamp biomicroscopy under mydriasis revealed an inferiorly visible flattened and concave crystalline lens equator from 4 to 8 o'clock position along with notching and absence of zonules, suggestive of lens coloboma.[ncbi.nlm.nih.gov]
  • Moreover, the general appearance of the patient may be suggestive of Marfan or Marshal syndromes. In these cases, a genetic consultation may be in order.[symptoma.com]
  • Specialists may suggest patients undergo surgery to fix lens and nostril problems. An artificial lens may be used to replace the faulty lens. Source: Advocacy organizations associated with the condition.[diseaseinfosearch.org]
  • Bell's phenomenon was normal in the patient suggesting intact supranuclear pathways. A forced duction test was positive, suggestive of a tight, restrictive inferior rectus, OS. The forced generation test for the superior rectus was negative.[journalofoptometry.org]


Ophthalmologic assessment reveals the presence of astigmatic refractive error [2] [1], as well as the possible involvement of underlying structures, such as the choroid, optic disk or optic nerve [6] [7]. The optic disk may be hypoplastic [8]. Other unrelated visual anomalies like cataract may sometimes be diagnosed by the ophthalmologist. Moreover, the general appearance of the patient may be suggestive of Marfan or Marshal syndromes [9] [10]. In these cases, a genetic consultation may be in order. Aside from observing the patient's clinical traits, the genetician may order transforming growth factor β (TGFβ) levels which may be increased [9]. A genetic syndrome may be absent, even if facial dysmorphism is present [5]. Lens colobomas have also been reported in association with Alport-like glomerulonephritis [11], therefore a urinalysis may be in order if history and clinical examination point to that diagnosis.

If the visual abnormality is severe and not immediately addressed, the patient will experience visual decline due to amblyopia, that can be anisometropic, meridional or refractive. If the eyelid is affected by ptosis, the prognosis is even more grim. Overall, visual outcome depends on the presentation timing and the patient's desire to undergo surgery and rehabilitation.


  • This approach will enable the practitioner to make the most accurate diagnosis and choose the most effective treatment option.[books.google.com]
  • Microbubbles and pigment release were observed at times during treatment.[karger.com]
  • Babies with birth defects often need special care and treatments. The treatments may include surgery, medicines, assistive devices, and therapies.[icdlist.com]
  • The updated Second Edition of this atlas is the definitive pictorial guide to differential diagnosis and treatment of virtually every presenting condition seen in ophthalmologic practice.[books.google.com]


  • If the eyelid is affected by ptosis, the prognosis is even more grim. Overall, visual outcome depends on the presentation timing and the patient's desire to undergo surgery and rehabilitation.[symptoma.com]
  • The prognosis of visual recovery in cases where visual disability has occurred will depend upon the time of detection (better prognosis inside the sensitive period) and the willingness of the patient to attempt rehabilitation.[journalofoptometry.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]
  • The purpose of this report was to report this rare presentation of bilateral lens colobomata and the good prognosis associated with appropriate management of the case.[jcor.in]


  • Congenital Cataract Definition Congenital opacity of the crystalline lens usually categorized by location or etiology: Capsular Opacity of the lens capsule, usually anteriorly.[clinicalgate.com]
  • Etiology Coloboma of the eyelid arises from defective eyelid development. Although this is induced by the developing globe, there is no clear evidence that eyelid coloboma results from globe abnormalities. [1] Figure 1.[eyewiki.aao.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]
  • Epidemiology Congenital cataracts occur in approximately 1 of 2000 live births.[clinicalgate.com]
  • Epidemiology [ 1 ] The estimated incidence of coloboma is about 1 in 10,000 births. Coloboma is estimated to account for 3-11% of blindness in children worldwide. Aetiology [ 2 ] The eye develops in the embryo, from the optic cup and optic fissure.[patient.info]
  • Epidemiology Incidence is 5 per 1,00,000 newborns Prevalence is 1 in 10,000 60% are bilateral Molecular genetics  deletion in gene which maps to chromosome 7q26.  a mutation in the PAX6 g  # Warburg M J Med Genet. 1993 Aug;30(8):664-9 4.[slideshare.net]
  • Epidemiology of congenital eye malformations in 131,760 consecutive births. Ophthalmic Paediatr. Genet. 13, 179–186 (1992). Pagon, R. A. Ocular coloboma. Surv. Ophthalmol. 25, 223–236 (1981).[eyewiki.aao.org]
Sex distribution
Age distribution


  • Pathophysiology In the normal eye, optic fissure closes 33 to 40 days after conception.[slideshare.net]


  • Posterior capsulorhexis and anterior vitrectomy on the side of the lens was performed to prevent posterior capsular or anterior hyaloid opacity.[ncbi.nlm.nih.gov]
  • Relaxing microsphincterotomies are important to prevent an excessively inferiorly positioned aperture after pupilloplasty.[crstoday.com]
  • Conservative approach with regular ocular & systemic examination is necessary to prevent visual impairment.[urbanedge.co.in]
  • Early detection and treatment could prevent vision loss. See an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light.[icdlist.com]
  • 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]



  1. Onwochei B, Simon J, Bateman J, et al. Ocular Colobomata. Surv Ophthalmol. 2000;43:175-194.
  2. Bavbek T, Ogut M, Kazokoglu H. Congenital lens coloboma and associated pathologies. Doc Ophthalmol. 1993;83:313-322.
  3. Khan A, Al-Assiri A. Lens coloboma associated with a ciliary body cyst. Ophthalmic Genet. 2007;28:208-209.
  4. Vaughn L, Schepens C. Progressive lenticular astigmatism associated with nuclear sclerosis and coloboma of the iris, lens, and choroid: Case report. Ann Ophthalmol 1981;13:25-27.
  5. Aggarwal A, El-Bash A, Inker S, et al. Symmetrical bilateral lens colobomas in two brothers. J Pediatr Ophthalmol Strabismus. 2004;41(5):302-304.
  6. Li J, Ma X, Hu Z. Lens coloboma and associated ocular malformations. Eye Sci. 2011;26:108-110.
  7. Stoll C, Alembik Y, Dott B, et al. Epidemiology of congenital eye malformations in 131,760 consecutive births. Ophthalmic Paediatr Genet. 1992;13(3):179-186.
  8. Fard A, Traboulsi E. Coloboma of the lens, optic nerve hypoplasia and orbital hemangioma-A possible developmental field defect. Ophthalmic Genet. 1998;19(4):209-212.
  9. LeBlanc S, Taranath D, Morris S, et al. Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGF-beta signaling. J AAPOS. 2014;18:90-92.
  10. Schlote T, Volker M, Knorr M, et al. Lens coloboma and lens dislocation in Stickler (Marshall) syndrome. Klin Monbl Augenheilkd. 1997;210:227-228.
  11. Amari F, Segawa K, Ando F. Lens coloboma and Alport-like glomerulonephritis. Eur J Ophthalmol. 1994;4(3):181-183.

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Last updated: 2018-06-22 11:50