June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
Genotype-Phenotype correlations in patients with Basal Laminar Drusen and Systemic Associations
Author Affiliations & Notes
  • Suman Pilli
    Southampton Eye Unit, Southampton, United Kingdom
  • Martin McKibbin
    St James's University Hospital, Leeds, United Kingdom
  • Clare Bailey
    Bristol Eye Hospital, Bristol, United Kingdom
  • Sheila Pinto
    Centro de Investigaciones Biologicas, Madrid, Spain
  • Jesus Garcia-Fernandez
    Centro de Investigaciones Biologicas, Madrid, Spain
  • Helen Griffiths
    University of Southampton, Southampton, United Kingdom
  • Santiago Rodriguez de Cordoba
    Centro de Investigaciones Biologicas, Madrid, Spain
  • Andrew Lotery
    University of Southampton, Southampton, United Kingdom
  • Footnotes
    Commercial Relationships Suman Pilli, None; Martin McKibbin, None; Clare Bailey, None; Sheila Pinto, None; Jesus Garcia-Fernandez, None; Helen Griffiths, None; Santiago Rodriguez de Cordoba, Alexion (C); Andrew Lotery, Novartis (F), Bayer (R)
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 1333. doi:
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    • Get Citation

      Suman Pilli, Martin McKibbin, Clare Bailey, Sheila Pinto, Jesus Garcia-Fernandez, Helen Griffiths, Santiago Rodriguez de Cordoba, Andrew Lotery; Genotype-Phenotype correlations in patients with Basal Laminar Drusen and Systemic Associations. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1333.

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

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Abstract

Purpose: To evaluate the genotypic features of patients with basal laminar drusen (BLD) in association with mesangiocapillary glomerulonephritis (MGN type II) or systemic lupus erythematosus (SLE).

Methods: Five probands with BLD were studied; of which 4 patients had MGN type II, while 1 patient had SLE. Three forms of genetic analysis were performed. These were DNA sequencing of CFH, analysis of age-related macular degeneration (AMD) associated single nucleotide polymorphisms (SNPs) in CFH, CFB ARMS2 and CFHR1 genes, and high-resolution comparative genomic hybridization (CGH) arrays for the CFH-CFHR1 region for three of the samples.

Results: A variety of SNPs were identified in CFH. Val62Ile, Gln672Gln, Glu936Asp and Intron 12 (rs6677604) were observed in all patients; while, Asn1050Tyr was noted in two patients (MGN and SLE patient each). Three 402His alleles in a total of 8 chromosomes (37.5% frequency) were observed in the MGN patients. These variants were predicted to provide a range of risk for AMD, ranging from very low (for the SLE patient) to high in the MGN patients. One patient with MGN type II also had a homozygous deletion at the CFHR3-CFHR1 locus.

Conclusions: BLD is a distinct drusen phenotype seen in young patients with MGN type II or SLE. It is associated with genetic variation within CFH and at the CFH locus. MGN, but not SLE, has a significant risk of progressing to AMD in later life.

Keywords: 504 drusen • 539 genetics • 688 retina  
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