Glyxambi
Home About us Editorial board Ahead of print Current issue Search Archives Submit article Instructions Subscribe Contacts Login 
  • Users Online: 2632
  • Home
  • Print this page
  • Email this page


 
   Table of Contents      
BRIEF COMMUNICATION
Year : 2015  |  Volume : 63  |  Issue : 4  |  Page : 348-350

Bilateral macular colobomata: Temporal dragging of optic disc


Department of Ophthalmology, Bansara Eye Care Centre, Shillong, Meghalaya, India

Date of Submission12-Jan-2015
Date of Acceptance28-Apr-2015
Date of Web Publication3-Jun-2015

Correspondence Address:
Dr. David J Mathew
Bansara Eye Care Centre, Lady Veronica Lane, Laitumkhrah, Shillong - 793 003, Meghalaya
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0301-4738.158090

Rights and Permissions
  Abstract 

A 13-year-old male presented with decreased vision and squint from childhood. He had bilateral large colobomata at the macula in each eye, the one on the right being larger than the left. The disc was dragged temporally with straightening of the temporal retinal vessels. This is a case report of bilateral large macular coloboma and serves to report its association with a temporally dragged disc and straightened temporal retinal vessels. A dragged disc if present with a colobomatous defect at the macula may strengthen the case for diagnosis of macular coloboma and help exclude other differentials.

Keywords: Dragged disc, macular coloboma, macular coloboma differentials


How to cite this article:
Mathew DJ. Bilateral macular colobomata: Temporal dragging of optic disc. Indian J Ophthalmol 2015;63:348-50

How to cite this URL:
Mathew DJ. Bilateral macular colobomata: Temporal dragging of optic disc. Indian J Ophthalmol [serial online] 2015 [cited 2019 Sep 22];63:348-50. Available from: http://www.ijo.in/text.asp?2015/63/4/348/158090

Congenital macular colobomata are well-circumscribed, punched out atrophic lesions of varying size, usually solitary, located at the macula. These resemble other conditions, namely congenital toxoplasmosis macular scar, North Carolina macular dystrophy, Leber's congenital amaurosis, advanced cone dystrophy, and central areolar choroidal dystrophy. This report is a case of bilateral large macular colobomata with the observation of signs hitherto unreported in literature to the best of my knowledge.


  Case Report Top


A 13-year-old male presented with a history of decreased vision in both eyes and squint from childhood. He reportedly had a fall from the bed at 5 months of age without any obvious consequences. There was no history of maternal fever, significant maternal antenatal history or complications during birth. There was no significant family history.

The best-corrected visual acuity was 20/120 OD and 20/80 OS as measured by the Snellen's visual acuity chart. He was trichromatic in both eyes. He had a chin down head posture with right exotropia. Right eye suppression was detected using Worth's four dot test. Fundus examination in each eye revealed a large, well-demarcated excavation at the macula, spanning both the temporal arcades with baring of the underlying sclera and a thin rim of pigmentation at the periphery, consistent with a coloboma [Figure 1]. The coloboma was larger on the right side. Temporal dragging of the optic disc and straightening of the temporal arcade vessels, thus reducing the angle between them, were present. The nasal arcade vessels appeared to have a proximal temporal loop before turning nasally, a finding noted commonly with dragged discs [Figure 2]. Rest of the retina was within normal limits.
Figure 1: OD and OS: Large, well-demarcated excavation at the macula, spanning both the temporal arcades with baring of the underlying sclera, consistent with a coloboma. The coloboma in the left eye is smaller, thus explaining better visual acuity in the left eye

Click here to view
Figure 2: OD and OS: Temporal dragging of the optic disc in both eyes, straightening of the temporal arcade vessels (black arrows), nasal arcade vessels have a proximal temporal loop before turning nasally (white arrows)

Click here to view


As he was a school student, low vision aids were given to help him see better in the classroom.


  Discussion Top


Macular colobomata are believed to be a consequence of arcuate bundles along the horizontal raphe undergoing incomplete differentiation. [1] As such, these are atypical colobomata as they do not fall in areas that originate from the embryonic cleft. Other similar lesions include congenital toxoplasmosis macular scar, North Carolina macular dystrophy, Leber's congenital amaurosis, advanced cone dystrophy, and central areolar choroidal dystrophy.

Toxoplasma retinochoroiditis is usually unilateral. There may be reactivation with the average number of attacks being 2.7/patient. [2] Though sharply demarcated, the edges of these lesions are not well-rounded, or oval shaped like a coloboma. Serological confirmation can be obtained in warranted cases.

North Carolina macular dystrophy is autosomal dominantly inherited with complete penetrance. Grade 3 of this entity resembles macular coloboma. [3]

Leber's congenital amaurosis presents with blindness and nystagmus or roving eye movements. Pigmentary retinopathy, arteriolar attenuation and optic atrophy usually develop over time. Severe pigmentation or a coloboma-like defect may be seen in the macula. Eye poking and enophthalmos may be seen in some. [4],[5]

Progressive cone dystrophy and central areolar choroidal dystrophy present between the second and fourth decades of life. The eventual lesion at the macula is geographic atrophy. [6],[7]

Temporal dragging of the disc with associated vascular changes is commonly associated with retinopathy of prematurity, familial exudative vitreoretinopathy, peripheral toxocara granuloma, combined hamartoma of the retina and retinal pigment epithelium, incontinentia pigmenti, and congenital retinal folds. [8] A dragged disc with straightening of vessels if seen with a large macular coloboma as in this case can aid in the clinical diagnosis and exclusion of other differentials.

In summary, this is a case report of a 13-year-old male with bilateral large colobomata at the macula. A dragged disc with straightening of retinal vessels has been hitherto unreported in association with a macular coloboma though it may have been observed in the past. These clinical findings can aid in the diagnosis of macular coloboma and exclusion of other differentials.

 
  References Top

1.
Satorre J, López JM, Martinez J, Piñera P. Dominant macular colobomata. J Pediatr Ophthalmol Strabismus 1990;27:148-52.  Back to cited text no. 1
    
2.
Friedmann CT, Knox DL. Variations in recurrent active toxoplasmic retinochoroiditis. Arch Ophthalmol 1969;81:481-93.  Back to cited text no. 2
    
3.
Frank HR, Landers MB 3 rd , Williams RJ, Sidbury JB. A new dominant progressive foveal dystrophy. Am J Ophthalmol 1974;78:903-16.  Back to cited text no. 3
    
4.
Smith D, Oestreicher J, Musarella MA. Clinical spectrum of leber′s congenital amaurosis in the second to fourth decades of life. Ophthalmology 1990;97:1156-61.  Back to cited text no. 4
    
5.
Yzer S, Hollander AI, Lopez I, Pott JW, de Faber JT, Cremers FP, et al. Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290. Mol Vis 2012;18:412-25.  Back to cited text no. 5
    
6.
Brown J Jr, Kimura AE, Gorin MB. Clinical and electroretinographic findings of female carriers and affected males in a progressive X-linked cone-rod dystrophy (COD-1) pedigree. Ophthalmology 2000;107:1104-10.  Back to cited text no. 6
    
7.
Ma K, Yang XF, Han C, Zhang N, Xu J, Liu SB, et al. Clinical features and linkage analysis for a Chinese family with autosomal dominant central areolar choroidal dystrophy. Chin Med J (Engl) 2009;122:2686-90.  Back to cited text no. 7
    
8.
Barreau E, Cohen SY, Coscas G. Dragged disk syndrome. Review of etiologies. Apropos of a case. J Fr Ophtalmol 1996;19:58-63.  Back to cited text no. 8
    


    Figures

  [Figure 1], [Figure 2]



 

Top
 
 
  Search
 
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Access Statistics
    Email Alert *
    Add to My List *
* Registration required (free)  

 
  In this article
Abstract
Case Report
Discussion
References
Article Figures

 Article Access Statistics
    Viewed1274    
    Printed10    
    Emailed0    
    PDF Downloaded139    
    Comments [Add]    

Recommend this journal