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 Table of Contents  
PHOTO ESSAY
Year : 2021  |  Volume : 1  |  Issue : 4  |  Page : 820-822

Insight in multi-colour imaging of Laurence–Moon–Bardet–Biedl syndrome – Not just technicolour


1 Medical Officer, Department of Cataract and Refractive Surgery, Mahatma Eye Hospital Private Limited, Trichy, Tamil Nadu, India
2 Medical Officer, Department of Glaucoma and Research, Mahatma Eye Hospital Private Limited, Trichy, Tamil Nadu, India
3 Optometrist, Department of Optometry, Mahatma Eye Hospital Private Limited, Trichy, Tamil Nadu, India
4 Medical Officer, Department of Vitreo-retinal Services, Mahatma Eye Hospital Private Limited, Trichy, Tamil Nadu, India
5 Head of Department of Cataract and Refractive Surgery, Mahatma Eye Hospital Private Limited, Trichy, Tamil Nadu, India
6 Chief Medical Officer, Mahatma Eye Hospital Private Limited, Trichy, Tamil Nadu, India

Date of Submission04-Apr-2021
Date of Acceptance31-May-2021
Date of Web Publication09-Oct-2021

Correspondence Address:
Dr. Prasanna Venkatesh Ramesh
Mahathma Eye Hospital Private Limited, No 6, Tennur, Seshapuram, Trichy - 620 017, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_759_21

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  Abstract 


Keywords: Fundus auto-fluorescence, Hypogonadism, Infrared reflectance imaging, Laurence-Moon–Bardet–Biedl syndrome


How to cite this article:
Ramesh SV, Ramesh PV, Ray P, Balamurugan A, Aji K, Ramesh MK, Rajasekaran R. Insight in multi-colour imaging of Laurence–Moon–Bardet–Biedl syndrome – Not just technicolour. Indian J Ophthalmol Case Rep 2021;1:820-2

How to cite this URL:
Ramesh SV, Ramesh PV, Ray P, Balamurugan A, Aji K, Ramesh MK, Rajasekaran R. Insight in multi-colour imaging of Laurence–Moon–Bardet–Biedl syndrome – Not just technicolour. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Oct 26];1:820-2. Available from: https://www.ijoreports.in/text.asp?2021/1/4/820/327706



We report a case series of three patients, presenting with the ciliopathic disorder of Bardet–Biedl syndrome, highlighting the need for fundus auto-fluorescence (FAF) and infrared reflectance (IRR) imaging in them, with additional gonadal photographs which are poorly reported in literature.[1],[2]

Case 1: A 15-year-old male patient [Figure 1] was brought to the hospital by his mother for ocular examination. The patient had visual acuity of 10/200 in both eyes (OU). Ocular examination revealed nystagmus and normal anterior segments, with fundi OU showing pigmentary retinopathy and macular involvement. Due to poor vision and inability to fixate due to nystagmus, optical coherence tomography (OCT) and fundus photography were not obtained. Mother gave history of developmental delay with both parents being unaffected, with history of non-consanguineous marriage.
Figure 1: Case 1. (a and b) Clinical photograph showing truncal obesity on front and side view, respectively. (c) Clinical photograph showing hypogonadism (red arrow). (d and e) Clinical photograph showing polydactyly of upper limb and lower limb, respectively (red arrows)

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Case 2 and 3: A pair of siblings were brought for annual ophthalmic evaluation. The older 16-year-old male [Figure 2]d, [Figure 2]e, [Figure 2]f had best-corrected visual acuity (BCVA) of 20/60 OU. Ocular examination revealed mild nystagmus with normal anterior segment. Fundus examination showed extensive pigmentary changes with macular involvement and arterial attenuation [Figure 3]a and [Figure 3]b. FAF, IRR imaging and OCT of macula were performed in OU [Figure 4]. The younger sibling, a 14-year-old girl [Figure 2]a, [Figure 2]b, [Figure 2]c, had BCVA 20/40 in the right eye (OD) and 20/30 in the left eye (OS) with the following fundus findings [Figure 3]c and [Figure 3]d; and FAF, IRR imaging and OCT findings [Figure 5]. Parents had history of third-degree consanguinity with normal ocular features.
Figure 2: Siblings examination - Case 2 and Case 3. (a and b). Clinical photograph showing polydactyly of upper limb and lower limb (red arrow) of the girl, respectively. (c). Clinical photograph showing truncal obesity of the girl. (d) Clinical photograph showing truncal obesity with polydactyly of upper limb, of the boy. (e and f) Clinical photograph showing hypogonadism (red arrow) and polydactyly of lower limb (red arrow) of the boy, respectively

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Figure 3: (a and b) Mosaic colour fundus photograph of Case 2 showing extensive pigmentary changes (green arrows) with macular involvement (red arrow) and arterial attenuation (yellow arrows) of OD and OS respectively. (c and d) Mosaic colour fundus photograph of Case 3 showing pigmentary changes in the mid-periphery and arterial attenuation (yellow arrows) of OD and OS respectively

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Figure 4: Case 2. (a and b) Fundus auto-fluorescence (FAF) image revealing extensive hypo-autofluorescence spots in the posterior pole (red arrows) involving the macula (yellow arrows) of OD and OS respectively. (c and d) Infrared reflectance (IRR) image revealing complete choroidal visibility (red arrows) of OD and OS respectively. (e and f) Optical coherence tomography (OCT) of macula showing complete disruption and disorganisation of the ellipsoid zone and retinal pigment epithelium (yellow arrows) of OD and OS respectively. (g and h) Inverse colour OCT of the same macula OU (red arrows) performed for better visualisation

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Figure 5: Case 3. (a and b) Fundus auto-fluorescence (FAF) photograph showing hypo-autofluorescence in the mid periphery (red arrows) of OD and OS respectively. (c and d) Infrared reflectance (IRR) image showing choroidal visibility in the mid-periphery, sparring the macular region (red arrows) of OD and OS respectively. (e and f) Optical coherence tomography (OCT) macula showing normal anatomy of OD and OS respectively. (g and h) Inverse colour optical coherence tomography (OCT) of the same macula performed for better visualisation, revealing normal anatomy of OD and OS respectively

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  Discussion Top


Patterns of FAF and IRR imaging indicate different pathophysiologic processes involving lipofuscin and melanin. Based on previous histologic reporting in humans with retinitis pigmentosa, IRR imaging visualised areas with viable photoreceptors and retinal pigment epithelial (RPE) cells better, whereas FAF corresponded to damaged RPE cells better. Combined FAF and IRR imaging, which is not just technicolour, will provide further insight in the development of retinitis pigmentosa and will serve to distinguish different genetic entities and could help to monitor future therapeutic interventions.[3],[4],[5]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms from the patient and the patient's parents. In the form, the patients and their parents have given their consent for their images and other clinical information to be reported in the journal. The patients and their parents 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.
Kumar S, Mahajan BB, Mittal J. Bardet-Biedl syndrome: A rare case report from North India. Indian J Dermatol Venereol Leprol 2012;78:228.  Back to cited text no. 1
[PUBMED]  [Full text]  
2.
Karaman A. Bardet-Biedl syndrome: A case report. Dermatol Online J 2008;14:9.  Back to cited text no. 2
    
3.
Forsythe E, Kenny J, Bacchelli C, Beales PL. Managing Bardet–Biedl Syndrome–Now and in the future. Front Pediatr 2018;6:23.  Back to cited text no. 3
    
4.
Bardet-Biedl Syndrome (BBS). American Academy of Ophthalmology 2016. [Last accessed 2021 Apr 2].; Available from: https://www.aao.org/disease-review/bardet-biedl-syndrome-bbs.  Back to cited text no. 4
    
5.
Kellner U, Kellner S, Weinitz S. Comparison of near-infrared autofluorescence and fundus autofluorescence in patients with retinitis pigmentosa. Invest Ophthalmol Vis Sci 2007;48:3735.  Back to cited text no. 5
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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