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].

• Surgical Procedure

  During the surgical procedure an ophthalmic viscosurgical device was used to tamponade the vitreous, and after continuous curvilinear capsulorhexis the capsular tension ring was inserted to allow the surgeon to perform a safe phacoemulsification. © 2012 [karger.com]

  Procedures Senile Cataract Toxic Agents, Medication and Radiation Trauma (Injury) Lids Neuro-Ophthalmology Optic Nerve Orbit Retina Sclera Strabismus, Ocular Motility Disorders Systemic Diseases Vitreous Z Videos Z-iPodcasts Z_Op-Videos Endorsed by iPod [atlasophthalmology.net]

  Currently, pars plana lensectomy with anterior vitrectomy and TSFIOL assisted with fibrin glue is the surgical procedure of choice.7 Other modalities for management of severe lens subluxation include phacoaspiration and IOL with capsular tension ring or [docksci.com]

• Nightmare

  Phaco Nightmares: Conquering Cataract Catastrophes. Thorofare, NJ: SLACK Incorporated; 2006. Agarwal S, Agarwal A, Agarwal A. Phacoemulsification –Two volume set. 3rd ed. Informa Healthcare; 2004. [healio.com]

• Aspiration

  After making a 3 mm limbal incision, the colobomatous lens was removed by anterior continuous curvilinear capsulorhexis and lens aspiration. [ncbi.nlm.nih.gov]

• Diarrhea

  Archives d'Ophtalmologie et Revue Generale d'Ophtalmologie 31(6): 497-516, 1971 Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). [eurekamag.com]

• Hypotension

  These IOP values were constant, although maximal ocular hypotensive therapy was added (brimonidine tartrate 0.2%, dorzolamide hydrochloride 2% drops and 250 mg acetazolamide tablets, twice daily). [ncbi.nlm.nih.gov]

• Macula

  Macular coloboma This happens when the center of the retina, called the macula, does not develop normally. The macula is responsible for daylight, fine, and color vision. [sharecare.com]

  Macular coloboma : The macula is a portion of the retina of the eye that is responsible for central vision. In this type of coloboma, the defect lies in the macula causing partial loss of vision. [medindia.net]

  The macula doesn’t fully develop. The macula is the center of the retina. This usually causes vision problems. Uveal coloboma. This may be a part missing from the colored part at the front of the eye, called the iris. [fairview.org]

  People with a coloboma affecting the macula and the optic nerve will likely have reduced vision. In general, it is difficult to exactly predict what level of vision a baby will have only by looking at how much of the retina is missing. [iscreenvision.com]

  Macular Coloboma This happens when the center of the retina, called the macula, does not develop normally. The macula is responsible for daylight, fine and color vision. [nei.nih.gov]

• Visual Impairment

  […] and National Association of Parents of Children with Visual Impairments www.familyconnect.org Delta Gamma Center for Children with Visual Impairments 1750 S. [dgckids.org]

  It may be found during a preventative eye examination if there is a known family history of a visual impairment, or it may found during an eye examination when another visual impairment has been previously identified. [familyconnect.org]

  Conservative approach with regular ocular & systemic examination is necessary to prevent visual impairment. [urbanedge.co.in]

  Affected families can also work with support services for children with visual impairment, such as those offered through the American Foundation for the Blind and National Association for Parents of Children with Visual Impairments (for example, Family [eyehealthweb.com]

  Coloboma remains an important cause of childhood visual impairment and blindness. Lid colobmas if large can lead to exposure keratitis that can lead to scarring and visual impairment. [medindia.net]

• Ectopia Lentis

  Bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome Case Report Abstract A rare case of bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome is reported. [egms.de]

  Bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome. GMS Ophthalmol Cases 2016;6:Doc14. 3. Thapa BB, Singh R, Ram J, Kumar A. Lens coloboma in one eye and ectopia lentis in the other eye of a patient with Marfan syndrome. [tnoajosr.com]

  India Correspondence to Dr Ramandeep Singh, mankoo95{at}yahoo.com Summary We present a case of Marfan syndrome with lens coloboma in one eye and ectopia lentis in the other. [casereports.bmj.com]

  It is usually inferior-nasal and monocular.1 By far the most common ocular abnormality seen in patients with Marfan syndrome is ectopia lentis, affecting 50–80% of individuals. [docksci.com]

  We present a case of Marfan syndrome with lens coloboma in one eye and ectopia lentis in the other. A 14-year-old girl reported decreased vision in the left eye. [ncbi.nlm.nih.gov]

• Prolapse

  TIP Phacoemulsification of a lens with extensive coloboma can be challenging, as vitreous prolapse into the anterior chamber often develops through the coloboma and elevated anterior vitreous pressure may be encountered. [millennialeye.com]

  We would inject a dispersive viscoelastic peripheral to the lens in the area of the coloboma to prevent vitreous prolapse. In anticipation of some (usually mild) zonular laxity, we would then cautiously create the capsulorhexis. [crstoday.com]

  Management  Anterior vitrectomy Vitreous loss – Prolapse through PC rent Prolapse through colobomatous area without PC rent  Optimal centeration of the optic with the ectopic pupil to avoid post-op mono-ocular diplopia Puppiloplasty may be required [slideshare.net]

  Vitreous loss may occur secondary to prolapse through the coloboma in the presence of an intact capsule. Giant retinal tears also occur with isolated lens coloboma. [healio.com]

• Diplopia

  Postoperative IOL edge glare syndrome and monocular diplopia, potential complications, can be managed by pupilloplasty. [healio.com]

  Symptoms Asymptomatic (Mittendorf dot, coloboma); may have decreased vision (lenticonus, lentiglobus, and microspherophakia), diplopia, or symptoms of angle-closure glaucoma (microspherophakia). [clinicalgate.com]

  Management  Anterior vitrectomy Vitreous loss – Prolapse through PC rent Prolapse through colobomatous area without PC rent  Optimal centeration of the optic with the ectopic pupil to avoid post-op mono-ocular diplopia Puppiloplasty may be required [slideshare.net]

  The iris defect can and should be closed inferiorly to reduce the risks of edge-related glare and monocular diplopia from the light coming around the IOL’s margin in the aphakic space. [crstoday.com]

• Lacrimation

  2018 2019 Billable/Specific Code POA Exempt Applicable To Coloboma NOS lens Q12.2 Persistence, persistent (congenital) tunica vasculosa lentis Q12.2 Tunica vasculosa lentis Q12.2 ICD-10-CM Codes Adjacent To Q12.2 Q10.6 Other congenital malformations of lacrimal [icd10data.com]

  Weakening of cornea humidification with lacrimal liquid is possible. The patient complains also of essential cosmetic defect. The coloboma of blepharon is eliminated by means of surgery. [vision-problems.com]

  Anterior Chamber Brain and Optical Pathway Choroid Congenital Syndromes, Malformations and Abnomalities Conjunctiva Cornea Glaucomas, Ocular Hypertension Hypertensive Retinopathy Iris and Ciliary Body Lacrimal System Lens Anatomy and Embryology Cataract [atlasophthalmology.net]

  ↑ Orbit, eyelids and lacrimal system, 2009-20010. (American Academy of Ophthalmology, 2009). ↑ Olsen, T. W. Visual acuity in children with colobomatous defects. Curr. Opin. Ophthalmol. 8, 63–67 (1997). ↑ 20.0 20.1 Olsen, T. W., Summers, C. [eyewiki.aao.org]

• Suggestibility

  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]

  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]

  […] lens vesicles which results in double lens. [1] This suggests that the lens is divided before the lens starts developing. [ijo.in]

• Nystagmus

  Discussion Spontaneous nystagmus occurring before about 6 months of age is called ‘congenital’ or early-onset nystagmus. [nature.com]

  Congenital varicella syndrome Cataracts, chorioretinitis, optic nerve atrophy or hypoplasia, nystagmus, and Horner’s syndrome. [clinicalgate.com]

  There was no iris or lens coloboma and no nystagmus. Fundus evaluation revealed chorioretinal and optic nerve coloboma with sparing of fovea in both eyes (Figures 1B and 1C). [retinatoday.com]

  Glaucoma, nystagmus, scotoma, or strabismus may also occur. [en.wikipedia.org]

  If both eyes are affected by optic disc coloboma, they may also have nystagmus, meaning that their eyes move constantly and uncontrollably. Page last reviewed: Oct. 11, 2022 Next review due: Jan. 31, 2023 [rnib.org.uk]

• Mydriasis

  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]

  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. [casereports.bmj.com]

  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. [docksci.com]

  However on examination under mydriasis, the right eye revealed ectopia lentis with superonasal subluxation extending from 5 to 12 o’clock with lens coloboma at lens equator (Figure 1 C [ Fig. 1] ). [egms.de]

  Minimal mydriasis or reactive miosis may be a problem. Conventional approaches to deal with normally positioned small pupils and cataract surgery may be used, such as mechanical stretching, iris retractors or multiple sphincterotomies. [healio.com]

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.

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Treatment After making a 3 mm limbal incision, the colobomatous lens was removed by anterior continuous curvilinear capsulorhexis and lens aspiration. [ncbi.nlm.nih.gov]

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 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]

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]

As such, lens notching can occur secondary to etiologies causing weakened or deficient zonules. Reflex sympathetic dystrophy may develop after an injury to an extremity resulting in severe, persistent pain after the injured tissues have healed. [aaopt.org]

There have been few case reports of double lens; the etiology suggested is metaplastic changes in the surface ectoderm that leads to formation of two lens vesicles and hence resulting in double lens. [ijo.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]

Treacher Collins syndrome: etiology, pathogenesis and prevention. [eyewiki.aao.org]

Congenital eye malformations: clinical–epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet. 1998; 75: 497-504 Doganay S. Emre S. Firat P. Bilateral aniridia lenticular coloboma and snowflake degeneration. [contactlensjournal.com]

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 5 to 7 per 100,000 births, making it a relatively rare [en.wikipedia.org]

Epidemiology Congenital cataracts occur in approximately 1 of 2000 live births. [clinicalgate.com]

Epidemiology of congenital eye malformations in 131,760 consecutive births. Ophthalmic Paediatr Genet. 1992;13(3):179-86. [ Links ] 6 Hovland KR, Schepens CL, Freeman HM. Developmental giant retinal tears associated with lens coloboma. [scielo.br]

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]

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

It was Watchel who studied the ocular pathology of Marfan's syndrome in 1966 and noted colobomas of the lens as one of its features. [1] Pathophysiology Coloboma of the lens is an autosomal dominant condition occurring in the 4 th month of development [tnoajosr.com]

Clinical and pathophysiological implications of a bicuspid aortic valve. Circulation. 2002;106(8):900-4. [scielo.br]

Relaxing microsphincterotomies are important to prevent an excessively inferiorly positioned aperture after pupilloplasty. [crstoday.com]

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]

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.