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 . The structure has an equatorial notch . 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  and may be caused by a ciliary body tumor like a medulloepithelioma or following congenital glaucoma surgery . 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 . 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 .
Entire Body System
Hence, the implantation of a capsular tension ring is preferred before the emulsification of the nucleus to prevent capsular bag deformity, and to enable nucleus rotation and avoid capsular collapse; thereby, reducing surgical complications. [ncbi.nlm.nih.gov]
Her father, aunt and grandfather were of tall stature, characteristic of Marfan syndrome. On systemic evaluation, the patient was diagnosed as Marfan syndrome. After surgical correction she achieved vision of 6/6 in both eyes. [ncbi.nlm.nih.gov]
Family history revealed tall stature and incidence of eye surgery at a young age in the patient’s father, aunt and grandfather; two characteristics of Marfan syndrome. [docksci.com]
Jaw & Teeth
Unilateral cataract with lens coloboma and bilateral corneal edema in a guanaco. J Am Vet Med Assoc 1978; 173: 1251–52. Google Scholar 12. Cenamo G, Liguori G, Pezone A, Laccarino G. [link.springer.com]
Ocular findings such as hypertelorism, ptosis, strabismus, blue sclera, and cataract have been previously reported in bicuspid aortic valve cases, and bicuspid aortic valve in this case may be a minor expression of Marfan syndrome; however, as far as [scielo.br]
Ophthalmologic assessment reveals the presence of astigmatic refractive error  , as well as the possible involvement of underlying structures, such as the choroid, optic disk or optic nerve  . The optic disk may be hypoplastic . 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  . 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 . A genetic syndrome may be absent, even if facial dysmorphism is present . Lens colobomas have also been reported in association with Alport-like glomerulonephritis , 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]
The clinical condition of the left eye only required treatment with timolol 0.5% twice daily to control the intraocular pressure (IOP). [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]
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]
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]
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]
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]
If supplemented with retinoic acid, however, these fishes do not develop coloboma with suggests vitamin A deficiency as an etiology.   Ocular coloboma due to failed closure of the embryonic fissure occurs in 0.5 to 2.2 cases per 10,000 live births [eyewiki.aao.org]
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]
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]
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.  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]
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.  Pathophysiology Coloboma of the lens is an autosomal dominant condition occurring in the 4 th month of development [tnoajosr.com]
Pathophysiology In the normal eye, optic fissure closes 33 to 40 days after conception. [slideshare.net]
Clinical and pathophysiological implications of a bicuspid aortic valve. Circulation. 2002;106(8):900-4. [scielo.br]
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]
Posterior CCC and anterior vitrectomy on the lens side was performed to prevent posterior capsular or anterior hyaloid opacity. As the defect in his lens was enormous, intracapsular placement of Intraocular Lens (IOL) was not feasible. [austinpublishinggroup.com]
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- 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.
- Schlote T, Volker M, Knorr M, et al. Lens coloboma and lens dislocation in Stickler (Marshall) syndrome. Klin Monbl Augenheilkd. 1997;210:227-228.
- Amari F, Segawa K, Ando F. Lens coloboma and Alport-like glomerulonephritis. Eur J Ophthalmol. 1994;4(3):181-183.