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 Table of Contents  
CASE REPORT
Year : 2022  |  Volume : 2  |  Issue : 3  |  Page : 705-707

Seronegative macular coloboma with multifocal choroiditis


Department of Ophthalmology, Dr Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, New Delhi, India

Date of Submission26-Jan-2022
Date of Acceptance09-May-2022
Date of Web Publication16-Jul-2022

Correspondence Address:
Dr. Shorya V Azad
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, New Delhi
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_146_22

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  Abstract 


Macular coloboma is a rare and distinct entity thought to be a consequence of a developmental abnormality or a resolved inflammation secondary to intrauterine or postnatal infection. Acquired macular scars are usually post-inflammatory scars secondary to chorioretinitis usually caused by toxoplasmosis, cytomegalovirus, and, rarely, ocular Toxocara infection. We report a unique case of seronegative bilateral macular coloboma with multifocal choroiditis in the right eye. To our knowledge, unilateral multifocal choroiditis has not been reported in association with bilateral macular coloboma in the literature.

Keywords: Choroiditis, macular coloboma, ocular toxoplasmosis


How to cite this article:
Banerjee M, Sharma A, Azad SV, Venkatesh P. Seronegative macular coloboma with multifocal choroiditis. Indian J Ophthalmol Case Rep 2022;2:705-7

How to cite this URL:
Banerjee M, Sharma A, Azad SV, Venkatesh P. Seronegative macular coloboma with multifocal choroiditis. Indian J Ophthalmol Case Rep [serial online] 2022 [cited 2022 Aug 19];2:705-7. Available from: https://www.ijoreports.in/text.asp?2022/2/3/705/351123



Macular coloboma is a rare and distinct entity thought to be a consequence of a developmental abnormality or a resolved inflammation secondary to intrauterine or postnatal infection.[1] It is a type of atypical coloboma since it does not originate from the area of the embryonic fissure.[2]

We report a unique case of seronegative bilateral macular coloboma with multifocal choroiditis in the right eye. To our knowledge, unilateral multifocal choroiditis has not been reported in association with bilateral macular coloboma in the literature.


  Case Report Top


A 16-year-old immunocompetent male presented with sudden-onset blurring of vision in the right eye (OD) for 1 week. He had a history of insidious-onset gradually progressive diminution of vision in both eyes (OU) since 2 years of age. There was no history of any antenatal infection or systemic illness.

Ocular examination revealed a best-corrected visual acuity (BCVA) of 6/18 OD and 6/24 OS. Intraocular pressure and anterior segment examination were within normal limits OU. Fundus examination revealed a solitary, small, moderately pigmented excavated macular lesion with scleral show OD with multifocal healed choroiditis patches outside the arcades. The margin of the macular excavation along with a few nasal patches showed activity [Figure 1]a. It was better appreciated on autofluorescence imaging as hypo-autofluorescent lesions with hyper borders in nasal quadrant OD [Figure 1]b. A solitary, medium-sized, deeply excavated, moderately pigmented macular lesion was observed OS, which was appreciated on autofluorescence as a hypo-autofluorescent macular lesion [Figure 1]c and [Figure 1]d. Optical coherence tomography (OCT) through the macula depicted an excavated lesion with outer retinal cavitations along with a fibrotic area adjacent to it temporally [Figure 2]a. Temporal healed choroiditis patches can be appreciated on OCT as a fibrotic area with dilated choroidal large vessels below. A larger, deeply excavated macular lesion with retinal thinning and outer retinal large cavitations and disorganized, hyperreflective retinal pigment epithelium (RPE) layer and choroidal lacuna immediately adjacent to it were detected OS [Figure 2]b.
Figure 1: (a) Ultrawide field imaging depicting a solitary, small, moderately pigmented excavated macular lesion with scleral show OD with multifocal healed choroiditis patches with nasal active lesions (black arrow). (b) Ultrawide field fundus autofluorescence represents central hypo-autofluorescent excavation with temporal multifocal hypo-autofluorescent lesions and hypo-autofluorescent lesions with hyper-autofluorescent borders in nasal quadrant OD, signifying active lesions (red arrow). (c and d) A solitary, medium-sized, deeply excavated, moderately pigmented macular lesion was observed OS, which was appreciated on autofluorescence as a hypo-autofluorescent macular lesion

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Figure 2: :(a) OCT through the macular lesion depicted a moderately excavated lesion with outer retinal cavitations (red arrow) with a fibrotic area adjacent to it temporally (blue arrow) OD. Temporal healed choroiditis patches can be appreciated on OCT as a fibrotic area with dilated choroidal large vessels below (red arrowhead). (b) A larger, deeply excavated macular lesion with retinal thinning, outer retinal large cavitations (red arrow), and disorganized, hyperreflective RPE layer and choroidal lacuna (blue arrow) immediately adjacent to it were detected OS.

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Serological tests for cytomegalovirus (CMV) and toxoplasmosis were negative for both IgM and IgG antibodies. A complete blood count revealed a hemoglobin level of 12 g/dl with a normal total and differential leukocyte count. Erythrocyte sedimentation rate was raised to a value of 32 mm/h. Mantoux, chest X-ray, and Venereal disease research laboratory test (VDRL) were also negative.

Differential diagnosis

Acquired macular coloboma is often secondary to inflammation as a result of ocular toxoplasmosis or CMV infection.[1] Pathological features suggestive of post-inflammatory scars include destruction of the choriocapillaris, disorganized retinal layers, proliferation of the retinal pigment epithelium, and scar tissue formation.[3] Our patient had a negative serological result for Toxoplasma and CMV infection. Though it has been emphasized by Desmonts[4] that the ratio of antibody titers between aqueous and serum is important to make a diagnosis of ocular toxoplasmosis, we did not perform anterior chamber paracentesis as it is an invasive procedure and could have been harmful to the patient. Though the negativity of Toxoplasma serology did not exclude the presence of Toxoplasma infection, the clinical manifestation of active lesions away from the primary macular scar and OCT features reveal that it is unlikely to be a Toxoplasma scar. Toxoplasma gondii has a strong proclivity for the posterior pole, affecting it in more than 50% of the cases.[5] In contrast to immunocompromised patients, a healthy adult presents as a single focus of retinitis, even in the setting of multiple retino-choroidal scars.[6]

Retinal dystrophies have also been associated with macular lesions/scars. However, retinitis pigmentosa and Leber congenital amaurosis would have other pigmentary changes along with a macular lesion.[7] Other dystrophies usually give a positive family history along with photophobia and color vision abnormalities.[6],[8],[9] The absence of any of the aforementioned findings excluded the diagnosis of retinal dystrophies.

Treatment

The patient was initiated on oral steroids (1 mg/kg) and tapered slowly over 8 weeks.

BCVA improved to 6/12 OD within 1 week of initiation of oral steroids. However, recurrence was observed once oral steroids were tapered to less than 30 mg once daily. He was started on oral immunosuppressive drug methotrexate 10 mg once weekly and folic acid 5 mg twice weekly after two more episodes of recurrence and has been maintaining a stable vision of 6/12 OD for the last 4 months.


  Discussion Top


Kumar et al.[7] compared the OCT features between seronegative, Toxoplasma-positive, and CMV-positive macular coloboma. They observed that seronegative colobomas had solitary, small-medium lesions with equally distributed scleral show, while CMV-positive colobomas were solitary, large, deeply excavated with significant scleral show. Toxoplasma-positive lesions were either solitary or with satellite lesions, medium in size, flat or shallow excavation with no significant scleral show. A characteristic feature noted in their study was the presence of choroidal lacunae depicted on OCT as hyporeflective spaces in the choroid adjacent to the lesion, predominantly in serology-negative coloboma. It is hypothesized to reflect abnormally large choroidal vessels owing to insult to the choroidal vasculature in the early gestation period resulting in the destruction of the choriocapillaris and Sattler's layer, leaving behind the abnormally large Haller vessels.


  Conclusion Top


In our case, bilateral macular coloboma seems to have resulted from a common insult during the ocular developmental process, not explained by Toxoplasma or CMV infection, along with secondary acquired multifocal choroiditis in the right eye. Larger deeper excavation with significant retinal layer disorganization might attribute to lower vision in the left eye compared to the right eye. Though the specific etiology is still unknown, the presence of seronegative macular coloboma with multifocal choroiditis has not been reported in the literature to date.

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.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  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.
Duke-Elder S, Cook C. Normal and abnormal development. In: Duke-Elder S, editor. Systems in Ophthalmology. Vol. III, Part 2: Congenital Deformities. St. Louis: C.V. Mosby; 1963. p. 761-87.  Back to cited text no. 2
    
3.
Sorsby A. Congenital coloboma of the macula: Together with an account of the familial occurrence of bilateral macular coloboma in association with apical dystrophy of hands and feet. Br J Ophthalmol 1935;19:65-90.  Back to cited text no. 3
    
4.
Desmonts G. Definitive serological diagnosis of ocular toxoplasmosis. Arcg Ophthalmol 1996;76:839-51.  Back to cited text no. 4
    
5.
Bosch-Driessen LE, Berendschot TT, Ongkosuwito JV, Rothova A. Ocular toxoplasmosis: Clinical features and prognosis of 154 patients. Ophthalmology 2002;109:869-78.  Back to cited text no. 5
    
6.
Brown J, Kimura AE, Gorin MB. Clinical and electroretino- graphic findings of female carriers and affected males in a pro- gressive X-linked cone-rod dystrophy (COD-1) pedigree. Ophthalmology 2000;107:1104-1.  Back to cited text no. 6
    
7.
Kumar V, Kumawat D, Mahalingam K. Macular colobomata: Comparison of clinical and optical coherence tomography features with serologic results. Am J Ophthalmol 2019;200:47-56.  Back to cited text no. 7
    
8.
Ma K, Yang X, 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. 8
    
9.
Frank HR, Landers MB III, Williams RJ, Sidbury JB. A new dominant progressive foveal dystrophy. Am J Ophthalmol 1974;78:903-16.  Back to cited text no. 9
    


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