TNOA Journal of Ophthalmic Science and Research

: 2018  |  Volume : 56  |  Issue : 4  |  Page : 247--248

Bilateral inferior lens coloboma in a case of Marfan's syndrome

Krati Gupta1, Saurabh Deshmukh1, Damaris Magdalene2,  
1 Department of Ophthalmology, Sri Sankaradeva Nethralaya, Guwahati, Assam, India
2 Department of Strabismus and Pediatric Ophthalmology, Sri Sankaradeva Nethralaya, Guwahati, Assam, India

Correspondence Address:
Dr. Krati Gupta
Sri Sankaradeva Nethralaya, 96, Basistha Road, Beltola, Guwahati - 781 028, Assam

How to cite this article:
Gupta K, Deshmukh S, Magdalene D. Bilateral inferior lens coloboma in a case of Marfan's syndrome.TNOA J Ophthalmic Sci Res 2018;56:247-248

How to cite this URL:
Gupta K, Deshmukh S, Magdalene D. Bilateral inferior lens coloboma in a case of Marfan's syndrome. TNOA J Ophthalmic Sci Res [serial online] 2018 [cited 2023 Feb 5 ];56:247-248
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Full Text

Mckusick described the colobomas of the lens in a patient of Marfan's syndrome in 1955. 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]


Coloboma of the lens is an autosomal dominant condition occurring in the 4th month of development.[1] The characteristic notching of the lens tissue as a result of an incompletely formed lens at the equator is seen in the coloboma of the lens due to the incomplete closure of the fetal fissure. The zonules are usually absent or maldeveloped in the region of lens coloboma either due to persistent remnants of the fibrovascular sheath of the lens or due to incomplete closure of the optic vesicle.[2]

 Clinical Types and Associations

Marfan's syndrome is an autosomal dominant connective tissue disorder. A mutation in the fibrillin gene leads to systemic and ocular abnormalities.[2] Bilateral and symmetrical ectopia lentis is the most common ocular abnormality seen in patients with Marfan's syndrome, affecting 50%–80% of individuals.[3] Lens coloboma is a less commonly seen ocular feature of Marfan's syndrome. It is usually monocular and inferonasal.[3] It may occur in isolation or may be a typical coloboma that is seen in association with another ocular coloboma of the eyelid, iris, retina, macula, choroid, or optic disc.[1],[4]

 Case Report

A 28-year-old male presented with a complaint of diminution of vision in both the eyes (OU) for the last 3 years. His family history was unremarkable. He had no history of ocular trauma or surgery. On ophthalmic examination, his uncorrected visual acuity was 6/24 in the right eye (OD) and counting finger at 3 m in the left eye (OS), respectively, improving to 6/6, N6 with −1.00 DS/−2.00 DC × 20° correction OD and 6/12, N6 with −2.50 DS/−3.00 DC × 170° correction OS. Intraocular pressure was 16 mm of Hg OU. On slit-lamp biomicroscopic examination after dilatation, an inferiorly flattened and concave lens equator from 4 to 7 o'clock OD and from 3 to 9 o'clock OS along with the presence of characteristic notching [Figure 1]a and [Figure 1]b and stretched zonules in these regions OU was seen, suggestive of bilateral inferior lens coloboma. The magnified view of the stretched zonules showed the presence of iris pigments [Figure 2]. Dilated fundus examination with indirect ophthalmoscope was unremarkable.{Figure 1}{Figure 2}

He was tall and thinly built with an arm span (190 cm) more than the height (182 cm). High arched palate, pigeon-shaped chest, positive wrist sign, and arachnodactyly were the other systemic findings seen. He had no cardiac, pulmonary, renal, and central nervous system disorder. The electrocardiography findings were within normal limits.

A rare ocular finding in Marfan's syndrome, i.e., lens coloboma, is a congenital lens anomaly. It is very important to distinguish lens colobomas from the more common ectopia lentis as the former are often managed conservatively whereas latter may need a surgical intervention. Thus, this unique photograph documentation of bilateral lens coloboma highlights the fact that although rare, it can be seen in a case of Marfan's syndrome.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.


We would like to thank Sri Kanchi Sankara Health and Educational Foundation, Guwahati, India.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.


1Angra SK, Gupta S, Dada VK, Gupta AK. Coloboma of lens. Indian J Ophthalmol 1984;32:21-2.
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3Thapa 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. BMJ Case Rep 2014;2014. pii: bcr2014207112.
4Mehrotra AS, Solanki N, Sabharwal KK. Bilateral Coloboma of lens in Marfan's syndrome. Indian J Ophthalmol 1985;33:201-2.