July 2019
Volume 60, Issue 9
Free
ARVO Annual Meeting Abstract  |   July 2019
OCT characteristics associated with Bardet-Biedl syndrome (BBS) retinopathy
Author Affiliations & Notes
  • Rupal Morjaria
    Ophthalmology, university hospital birmigham, Birmingham, West Midlands, United Kingdom
  • Hina Khan
    Ophthalmology, university hospital birmigham, Birmingham, West Midlands, United Kingdom
    Amanat eye hospital, Pakistan
  • Maha Said
    Ophthalmology, university hospital birmigham, Birmingham, West Midlands, United Kingdom
  • Xiaoxuan Liu
    Ophthalmology, university hospital birmigham, Birmingham, West Midlands, United Kingdom
  • Robert Carmichael
    Ophthalmology, university hospital birmigham, Birmingham, West Midlands, United Kingdom
  • Nicholas Capewell
    Ophthalmology, university hospital birmigham, Birmingham, West Midlands, United Kingdom
  • Kamron N Khan
    Callerdale and Huddersfield NHS foundation trust, Leeds, United Kingdom
  • Marie Tsaloumas
    Ophthalmology, university hospital birmigham, Birmingham, West Midlands, United Kingdom
  • Helen Palmer
    Ophthalmology, university hospital birmigham, Birmingham, West Midlands, United Kingdom
  • Denise Williams
    Birmingham Womens Foundation Trust, United Kingdom
  • Pearse Andrew Keane
    Moorfields Eye Hospital, United Kingdom
  • Alastair K Denniston
    Ophthalmology, university hospital birmigham, Birmingham, West Midlands, United Kingdom
  • Footnotes
    Commercial Relationships   Rupal Morjaria, Alimera Sciences (R), Bayer (R); Hina Khan, None; Maha Said, None; Xiaoxuan Liu, None; Robert Carmichael, None; Nicholas Capewell, None; Kamron Khan, None; Marie Tsaloumas, None; Helen Palmer, None; Denise Williams, None; Pearse Keane, Allergan (R), Bayer (R), Carl Zeiss Meditec (R), DeepMind (C), Haag-Streit (R), Heidelberg Engineering (P), Novartis (R), Optos (C), Topcon (R); Alastair Denniston, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 1569. doi:
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    • Get Citation

      Rupal Morjaria, Hina Khan, Maha Said, Xiaoxuan Liu, Robert Carmichael, Nicholas Capewell, Kamron N Khan, Marie Tsaloumas, Helen Palmer, Denise Williams, Pearse Andrew Keane, Alastair K Denniston; OCT characteristics associated with Bardet-Biedl syndrome (BBS) retinopathy. Invest. Ophthalmol. Vis. Sci. 2019;60(9):1569.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : BBS is a rare multisystem ciliopathy affecting 1 in 100 000 in North America. Patterns of progression and prognosis of the retinal disease are poorly understood. There is no standardised clinical guideline to classify and grade BBS retinopathy using objective measures such as OCT. In this study we propose a clinically relevant grading system of OCT changes in BBS retinopathy, and evaluate potential genotype-phenotype correlation.

Methods : This was a retrospective analysis of clinical, imaging and genotypic data recorded of all BBS patients seen in the UK adult BBS service (Birmingham, UK) between 1st June 2013 and 1st Jan 2018. All clinical data was recorded prospectively using our established BBS Ophthalmic Assessment Tool. Imaging was performed with Spectralis SD-OCT (Heidelberg Engineering) aiming to obtain macular OCT (‘fast macular scan’ as standard; single line where needed), a retinal nerve fibre layer (‘RNFL’) OCT scan and macular Bluepeak Autofluorescence (BAF). Genotyping was performed through the regional genetic service based at Birmingham Womens’ and Childrens’ NHSFT.

Results :
88 scans, comprising both eyes of 44 cases, were analysed. 92% of patients with gradable scans showed symmetry of retinopathy between the two eyes.

Applying our OCT grading scale on a cross-sectional basis to this cohort ( 18 ungradable), the retinopathy patterns were a mixed central and peripheral retinopathy (CP) (31), rod-cone (RC) retinopathy (25), and a predominantly central cone-rod pattern (CR) (10); occasionally a Stargardt-like pattern was seen (4).
Stage of progression were as follows (79 scans, 9 ungradable): Grade 0 (4), Grade 1 (10), Grade 2 (34), Grade 3 (19), Grade 4 (12). 16 patients graded as ‘plus’ disease.
BBS1 gene mutation was the most common (25/44), followed by BBS10 (3/44), BBS2 (2/44), BBS5 (2/44), BBS12 (1/44), INPP5E (1/44) and no result in 10 cases.

Conclusions : We have described a novel grading system, based primarily on structural changes detected by standard SD-OCT. This grading system may help in measurement of structural progression and serve as a useful objective endpoint in clinical trials for BBS. Our OCT based grading system recognises a functional component since functional changes may predate the changes that can be seen with standard imaging systems.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

 

Proposed OCT grading System for BBS Retinopathy

Proposed OCT grading System for BBS Retinopathy

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