Association of pattern dystrophy with an HTRA1 single-nucleotide polymorphism

Tareq Jaouni, Edward Averbukh, Tal Burstyn-Cohen, Michelle Grunin, Eyal Banin, Dror Sharon, Itay Chowers*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


Objective: To evaluate if adult-onset foveomacular vitelliform dystrophy (AOFVD) and butterfly-shaped pigment dystrophy (BSPD) are associated with risk singlenucleotide polymorphisms (SNPs) for age-related macular degeneration (AMD). Methods: This was a tertiary referral center-based crosssectional study including 35 consecutive patients with BSPD and AOFVD, 317 patients with AMD, and 159 unaffected individuals. Demographics, clinical information, and ophthalmic imaging studies were collected. Sequencing was performed for the peripherin/RDS and BEST1 genes, and genotyping was performed for SNPs in the genes for complement factorH(CFH) (rs1061170), HTRA1 (rs11200638), and complement component 3 (C3) (rs2231099). Results: Adult-onset foveomacular vitelliform dystrophy and BSPD were diagnosed in 24 (68.6%) and 11 (31.4%) of the 35 patients, respectively. The mean (SD) age of patients with pattern dystrophy (PD) was 75.3 (10) years and median visual acuity was 0.7. Pattern dystrophy was associated with the HTRA1 risk allele compared with unaffected individuals (odds ratio, 1.72; 95% CI, 1.11-2.66; P =.03). The HTRA1 SNP showed similar prevalence in patients with AMD and PD. The CFH risk allele was significantly less common in patients with PD compared with patients withAMD(odds ratio, 0.47; 95% CI, 0.28-0.76; P =.002). No mutations in peripherin/ RDS or BEST1 were detected. Conclusions: The AOFVD and BSPD phenotypes are associated with an HTRA1 risk SNP. These phenotypes often present in elderly individuals who do not carry peripherin/ RDS gene mutations and are associated with retinal pigment epithelium alterations and increased risk for choroidal neovascularization. Further research is required to evaluate if AOFVD and BSPD phenotypes in aged individuals are associated with AMD.

Original languageAmerican English
Pages (from-to)987-991
Number of pages5
JournalArchives of Ophthalmology
Issue number8
StatePublished - Aug 2012


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