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Year : 2023  |  Volume : 3  |  Issue : 2  |  Page : 396-398

A rare combination: Bardet–Biedl syndrome with atypical retinitis pigmentosa and optic disc drusen

1 Department of Vitreo-Retina Services, MGM Eye Institute, Raipur, Chhattisgarh, India
2 Department of Cornea and Anterior Segment Services, MGM Eye Institute, Raipur, Chhattisgarh, India

Date of Submission03-Aug-2022
Date of Acceptance07-Dec-2022
Date of Web Publication28-Apr-2023

Correspondence Address:
Gulshan Barwar
5th Mile, Vidhan Sabha Road, Saddu, MGM Eye Institute, Raipur - 493 111, Chhattisgarh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_1904_22

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A 19-year-old male presented with night blindness and gradual diminution of vision since 5 years. Clinical examination and investigations revealed bilateral atypical retinitis pigmentosa (punctata albescens) with foveal atrophy and optic disc drusen. On general examination, patient had central obesity, post-axial polydactyly and brachydactyly in upper and lower limbs, hypogonadism, cognitive deficit, and speech impairment, which were suggestive of Bardet–Biedl syndrome. This is a rare case of Bardet–Biedl syndrome with atypical retinitis pigmentosa (punctata albescens) and bilateral optic disc drusen.

Keywords: Atypical retinitis pigmentosa, Bardet–Biedl syndrome, optic disc drusen

How to cite this article:
Barwar G, Parchand SM, Gangwe AB, Agrawal D. A rare combination: Bardet–Biedl syndrome with atypical retinitis pigmentosa and optic disc drusen. Indian J Ophthalmol Case Rep 2023;3:396-8

How to cite this URL:
Barwar G, Parchand SM, Gangwe AB, Agrawal D. A rare combination: Bardet–Biedl syndrome with atypical retinitis pigmentosa and optic disc drusen. Indian J Ophthalmol Case Rep [serial online] 2023 [cited 2023 Jun 10];3:396-8. Available from: https://www.ijoreports.in/text.asp?2023/3/2/396/374913

Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties, and hypogonadism.[1]

The most common diagnostic handle prompting investigation for BBS is the development of rod–cone dystrophy. Primary loss of rod photoreceptors is followed by later demise of cone photoreceptors.[2] This presents as an atypical retinitis pigmentosa with early macular involvement.[3] Obesity is another major clinical finding, and the incidence is reported to be 89% in the BBS population.[1] Developmental delay, cognitive deficit, and speech deficit are common in BBS,[3] with renal abnormalities being the major cause of morbidity and mortality in BBS.[4]

Rod–cone dystrophy is thought to be a consequence of abnormal trafficking across the defective modified cilia connecting the inner and outer segments of photoreceptors, leading to apoptosis.[5]

Retinitis punctata albescens is a progressive rod–cone dystrophy, with autosomal recessive transmission. The fundus aspect in retinitis punctata albescens presents multiple discrete white spots, especially scattered toward the equator.[6]

Optic disc drusen (ODD) are acellular deposits located in the optic nerve head of up to 2.4% of the population.[7] They may develop as by-products of impaired axonal metabolism in genetically predisposed individuals, in whom a narrow scleral canal is hypothesized to play a role. In children, the ODD are usually uncalcified and buried within the optic nerve head tissue. In these cases, the condition can be difficult to diagnose, as it often resembles a papilledema with optic nerve head swelling caused by raised intracranial pressure. During the teenage years, the ODD progressively become more calcified and probably also larger, which allow them to be visible on ophthalmoscopy.[7]

  Case Report Top

A 19-year-old male presented with the chief complaint of night blindness and gradual diminution of vision since 5 years, with visual acuity in both eyes being counting fingers (CF) 3 m and <N36 for distance and near, respectively. On general examination, the patient had central obesity [Figure 1]a, post-axial polydactyly, and brachydactyly [Figure 1]b and [Figure 1]c in upper and lower limbs, hypogonadism, cognitive deficit, and speech deficit with body mass index (BMI) of 28.7 (overweight).
Figure 1: (a) Central obesity; (b and c) polydactyly and brachydactyly

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Fundus examination of both eyes [Figure 2]a and [Figure 2]b revealed disc pallor with mild elevation of the disc. Arteriovenous ratio was normal. Foveal reflex was dull with foveal atrophy noted clinically. Bilateral scattered hypopigmented spots [Figure 2]c and [Figure 2]d were seen in all retinal quadrants with foveal sparing. Typical hyperpigmented bone spicules were not seen in the mid-periphery.
Figure 2: (a–d) Fundus photo showing disc pallor with disc edema and dull foveal reflex with foveal atrophy in right (a) and left (b), respectively. Mid-periphery reveals absence of typical hyperpigmented bone spicules, while multiple scattered hypopigmented changes are seen from the vascular arcade extending up till the equator in the right (c) and left (d) eye fundus

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Spectral domain optical coherence tomography (OCT) of both eyes revealed smooth vitreoretinal interface with normal foveal contour. Retinal layer at macula could be differentiated with foveal atrophy [Figure 3]a and [Figure 3]b in both the eyes.
Figure 3: (a and b) Spectral domain OCT of right (a) and left (b) eyes reveals normal foveal contour with undifferentiated retinal layer at the macula and foveal atrophy. B-scan ultrasonography demonstrates a highly reflective echogenic dot-like structure over the optic nerve head, corresponding to bilateral optic disc drusen in the right (c) and left (d) eyes, respectively. OCT = optical coherence tomography

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Ultrasound A-scan revealed a high-amplitude tall spike over the optic nerve head in both eyes, and B-scan ultrasonography demonstrated a highly reflective echogenic dot-like structure over the optic nerve head, corresponding to bilateral ODD [Figure 3]c and [Figure 3]d.

Electroretinogram (ERG) showed no scotopic and photopic response in both eyes.

Patient was advised low vision aid (LVA) for improvement in distance as well as near vision and referred to nephrologist and endocrinologist.

  Discussion Top

The predominant features of BBS are retinal dystrophy (94%), central obesity (89%), polydactyly (79%), cognitive impairment (66%), hypogonadism (59%), and renal abnormalities (52%), with minor features being neurodevelopmental abnormalities, dysmorphic craniofacial features, anosmia, oral–dental abnormalities, and cardiovascular, gastrointestinal, and endocrine abnormalities.[1]

Retinitis punctata albescens is relatively difficult to diagnose than a typical retinitis pigmentosa due to absence of pigmentary fundus changes in the form of bone spicules.

Prevalence of ODD in the rod–cone dystrophy is 2.95%.[8]; while atypical retinitis pigmentosa rarely presents with ODD.[6]

Literature search revealed few isolated case reports on BBS with atypical retinitis pigmentosa,[9] and atypical retinitis pigmentosa with bilateral ODD.[6] None of the published literature has reported all the above clinical entities, that is, BBS, atypical retinitis pigmentosa, and ODD in a single case report.

Patient and relatives were counseled about the clinical entities, and the patient was referred to nephrologist and endocrinologist for any associated renal or metabolic disorder.

Further molecular genetic examinations are required to be performed in order to establish the gene mutation and to refer the patient for genetic counseling.

Patient has two younger brothers who were also called for ocular examination.

  Conclusion Top

In summary, to our knowledge, this is the first case report of a rare combination of BBS and atypical retinitis pigmentosa (punctata albescens) with bilateral ODD.

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.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Forsythe E, Beales PL. Bardet-Biedl syndrome. Eur J Hum Genet 2013;21:8-13.  Back to cited text no. 1
Hamel CP. Cone rod dystrophies. Orphanet J Rare Dis 2007;2:7.  Back to cited text no. 2
Baker K, Beales PL. Making sense of cilia in disease: The human ciliopathies. Am J Med Genet C Semin Med Genet 2009;151C: 281-95.  Back to cited text no. 3
O'Dea D, Parfrey PS, Harnett JD, Hefferton D, Cramer BC, Green J. The importance of renal impairment in the natural history of Bardet-Biedl syndrome. Am J Kidney Dis 1996;27:776-83.  Back to cited text no. 4
Mockel A, Perdomo Y, Stutzmann F, Letsch J, Marion V, Dollfus H. Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies. Prog Retin Eye Res 2011;30:258-74.  Back to cited text no. 5
Horia ST, Bogdana T, Suvac E. Clinical particularities in an atypical case of retinitis pigmentosa. Rom J Ophthalmol 2016;60:43-6.  Back to cited text no. 6
Hamann S, Malmqvist L, Costello F. Optic disc drusen: Understanding an old problem from a new perspective. Acta Ophthalmol 2018;96:673-84.  Back to cited text no. 7
Serpen JY, Prasov L, Zein WM, Cukras CA, Cunningham D, Murphy EC, et al. Clinical features of optic disc drusen in an ophthalmic genetics cohort. J Ophthalmol 2020;2020:5082706. doi: 10.1155/2020/5082706.  Back to cited text no. 8
Madireddi J, Acharya V, Suryanarayana J, Hande HM, Shetty R. Bardet-Biedl syndrome: Multiple fingers with multiple defects! BMJ Case Rep 2015;2015:bcr2015211776. doi: 10.1136/bcr-2015-211776.  Back to cited text no. 9


  [Figure 1], [Figure 2], [Figure 3]


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