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Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.
Invest Ophthalmol Vis Sci. 2006 Nov; 47(11):5004-10.IO

Abstract

PURPOSE

To define the retinal phenotype in patients with the Bardet-Biedl syndrome and mutations in the BBS1 gene.

METHODS

Ten patients (age range, 16-48 years), representing eight pedigrees, with BBS1 gene mutations were studied clinically and with kinetic perimetry, chromatic static perimetry, electroretinography (ERG), and optical coherence tomography.

RESULTS

Of the 10 patients, 8 were M390R homozygotes and 2 were compound heterozygotes with one allele also M390R. A spectrum of retinal disease expression was present. The mildest disease was a subtle maculopathy with relatively limited peripheral retinal dysfunction. Moderate disease showed retina-wide rod > cone dysfunction, and often there was a negative ERG waveform. More severe disease expression had different patterns: either loss of central function but retained abnormal peripheral function or a retained small central island of impaired function only. Moderate and severe disease showed loss of retinal and photoreceptor layer thickness across wide expanses of retina. Severity differed in family members and was independent of age. In addition, severity was not explained by genotype at a recently reported BBS epistatic gene, MGC1203.

CONCLUSIONS

The cardinal feature of retinal degeneration in BBS1 can show a wide spectrum of disease expression.

Authors+Show Affiliations

Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, 51 North 39th Street, Philadelphia, PA 19104, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17065520

Citation

Azari, Amir A., et al. "Retinal Disease Expression in Bardet-Biedl Syndrome-1 (BBS1) Is a Spectrum From Maculopathy to Retina-wide Degeneration." Investigative Ophthalmology & Visual Science, vol. 47, no. 11, 2006, pp. 5004-10.
Azari AA, Aleman TS, Cideciyan AV, et al. Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Invest Ophthalmol Vis Sci. 2006;47(11):5004-10.
Azari, A. A., Aleman, T. S., Cideciyan, A. V., Schwartz, S. B., Windsor, E. A., Sumaroka, A., Cheung, A. Y., Steinberg, J. D., Roman, A. J., Stone, E. M., Sheffield, V. C., & Jacobson, S. G. (2006). Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Investigative Ophthalmology & Visual Science, 47(11), 5004-10.
Azari AA, et al. Retinal Disease Expression in Bardet-Biedl Syndrome-1 (BBS1) Is a Spectrum From Maculopathy to Retina-wide Degeneration. Invest Ophthalmol Vis Sci. 2006;47(11):5004-10. PubMed PMID: 17065520.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. AU - Azari,Amir A, AU - Aleman,Tomas S, AU - Cideciyan,Artur V, AU - Schwartz,Sharon B, AU - Windsor,Elizabeth A M, AU - Sumaroka,Alexander, AU - Cheung,Andy Y, AU - Steinberg,Janet D, AU - Roman,Alejandro J, AU - Stone,Edwin M, AU - Sheffield,Val C, AU - Jacobson,Samuel G, PY - 2006/10/27/pubmed PY - 2006/12/12/medline PY - 2006/10/27/entrez SP - 5004 EP - 10 JF - Investigative ophthalmology & visual science JO - Invest. Ophthalmol. Vis. Sci. VL - 47 IS - 11 N2 - PURPOSE: To define the retinal phenotype in patients with the Bardet-Biedl syndrome and mutations in the BBS1 gene. METHODS: Ten patients (age range, 16-48 years), representing eight pedigrees, with BBS1 gene mutations were studied clinically and with kinetic perimetry, chromatic static perimetry, electroretinography (ERG), and optical coherence tomography. RESULTS: Of the 10 patients, 8 were M390R homozygotes and 2 were compound heterozygotes with one allele also M390R. A spectrum of retinal disease expression was present. The mildest disease was a subtle maculopathy with relatively limited peripheral retinal dysfunction. Moderate disease showed retina-wide rod > cone dysfunction, and often there was a negative ERG waveform. More severe disease expression had different patterns: either loss of central function but retained abnormal peripheral function or a retained small central island of impaired function only. Moderate and severe disease showed loss of retinal and photoreceptor layer thickness across wide expanses of retina. Severity differed in family members and was independent of age. In addition, severity was not explained by genotype at a recently reported BBS epistatic gene, MGC1203. CONCLUSIONS: The cardinal feature of retinal degeneration in BBS1 can show a wide spectrum of disease expression. SN - 0146-0404 UR - https://www.unboundmedicine.com/medline/citation/17065520/Retinal_disease_expression_in_Bardet_Biedl_syndrome_1__BBS1__is_a_spectrum_from_maculopathy_to_retina_wide_degeneration_ L2 - http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.06-0517 DB - PRIME DP - Unbound Medicine ER -