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. 2017 May;95(3):e250-e252.
doi: 10.1111/aos.13293. Epub 2016 Nov 23.

Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome

Christina Kamme  1 , Anja Kathrin Mayer  2 , Tim M Strom  3   4 , Sten Andréasson  1 , Nicole Weisschuh  2
Affiliations

Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome

Christina Kamme et al. Acta Ophthalmol. 2017 May.
No abstract available

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Figures

Figure 1
Figure 1
Up left: Ocular fundus of the girl at age 28 with peripapillary atrophy, otherwise normal. Visual acuity was OD 0.25 (−2.0), OS 0.09 (−2.0). Optical coherence tomography demonstrates mainly normal appearance. Up right: Pedigree with the two siblings. Down left: Goldmann perimetry demonstrates essential normal peripheral visual field, but slightly reduced visual field with small object I:4e. Down right: Full‐field electroretinogram from a normal control subject and one of the subjects (girl). Black line at 6 years of age with no cone response and essentially normal rod response. Green line at 28 years of age with similar response.
See this image and copyright information in PMC

References

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    1. Riise R (1998): Laurence‐Moon‐Bardet‐Biedl syndrome. Clinical, electrophysiological and genetic aspects. Acta Ophthalmol Scand Suppl 226: 1–28. - PubMed
    1. Scheidecker S, Hull S, Perdomo Y et al. (2015): Predominantly cone‐system dysfunction as rare form of retinal degeneration in patients with molecularly confirmed Bardet‐Biedl syndrome. Am J Ophthalmol 160: 364–372. - PubMed
    1. Shevach E, Ali M, Mizrahi‐Meissonnier L et al. (2015): Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. JAMA Ophthalmol 133: 312–318. - PubMed
    1. Weisschuh N, Mayer AK, Strom TM et al. (2016): Mutation detection in patients with retinal dystrophies using targeted next generation sequencing. PLoS ONE 11: e0145951. - PMC - PubMed

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