Pseudo-Vitelliform Macular Detachment and Cuticular Drusen: Exclusion of 6 Candidate Genes

Barbazetto, Irene; Yannuzzi, Nicolas A.; Klais, Christina M.; Merriam, Joanna E.; Zernant, Jana; Peiretti, Enrico; Yannuzzi, Lawrence A.; Allikmets, Rando

doi:10.1080/13816810701538596

Cited by 17 publications

(12 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…One recent, small study reported similar findings in a white ethnic group; however, most previous studies on patients of white ethnicity reported smaller differences between the prevalence of GA and CNV. These studies reported that CNV could develop in 3.6-56% of patients in white ethnic groups 4,6,10,12,14 . In Korean patients, CNV was observed in only 6 eyes (3.7%) of 5 patients (6.2%); thus, the frequency of CNV in Koreans appeared to be relatively lower than the frequencies reported in white ethnic groups.…”

Section: Discussionmentioning

confidence: 99%

“…Cuticular drusen are more widely scattered on the fundus, with symmetrical distribution patterns in both eyes. In cuticular drusen, the age of onset is younger and genetic associations are stronger than in AMD 6 – 8 . In addition, smoking, one of the most important environmental factors in AMD, is weakly associated with cuticular drusen 9 .…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Clinical manifestations of cuticular drusen in Korean patients

Shin

Kong

Han

et al. 2020

Sci Rep

View full text Add to dashboard Cite

Don-il Ham 2* Cuticular drusen show some similarities to and differences from soft drusen in age-related macular degeneration (AMD) and might thus be a unique AMD subtype. previous studies on cuticular drusen were performed mainly in white ethnic groups, but AMD shows ethnic differences. We investigated clinical manifestations of cuticular drusen in Korean patients to evaluate possible ethnic differences. clinical records of Korean patients with cuticular drusen were retrospectively reviewed. fundus distribution pattern, imaging features, and presence of large drusen, drusenoid pigment epithelial detachment (peD), and macular complications, including geographic atrophy (GA), choroidal neovascularization (cnV), and acquired vitelliform lesion (AVL), were assessed via multimodal imaging in 162 eyes with cuticular drusen (n = 81 patients; 67 females; mean age: 66.6 ± 9.1 years). Diffuse distribution was found in 61.7% and peripapillary involvement in 75.3% of eyes. Large drusen, drusenoid PED, GA, CNV, and AVL were observed in 59.3%, 26.5%, 18.5%, 3.7%, and 1.2% of eyes, respectively. The macular complication prevalence was similar between patients ≤ 60 and those > 60 years old. In Korean patients, cuticular drusen were less frequently associated with macular complications than in white patients, and the proportion of macular complications differed significantly, with AVL representing an uncommon complication. Cuticular drusen are multiple, small, round drusen that appear hyperfluorescent in fluorescein angiography (FA), giving a "stars-in-the-sky" appearance 1,2. A histopathological study revealed that cuticular drusen are located between the basal lamina of the retinal pigment epithelium (RPE) and the inner collagenous layer of Bruch's membrane, similar to the soft drusen in age-related macular degeneration (AMD) 3,4. Imaging studies using spectral domain optical coherence tomography (SD-OCT) have also shown the similarity in location of cuticular drusen and soft drusen 4,5. Although cuticular drusen share many features in common with the soft drusen in AMD, there are also several differences between these two types of drusen. Cuticular drusen are more widely scattered on the fundus, with symmetrical distribution patterns in both eyes. In cuticular drusen, the age of onset is younger and genetic associations are stronger than in AMD 6-8. In addition, smoking, one of the most important environmental factors in AMD, is weakly associated with cuticular drusen 9. Cuticular drusen can cause vision loss as a result of vitelliform macular detachment, and it could be related to membranoproliferative glomerulonephritis type II and other renal diseases 2,4,10,11. Thus, cuticular drusen might be a unique subtype of AMD, with particular characteristics. Previous studies on cuticular drusen were performed mainly in white ethnic groups, and clinical features in other ethnic groups remain largely unknown 4,6,10,12-14. Yet, there are known ethnic differences in AMD. The prevalence of AMD varies in different ethnic groups, and the...

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Clinical manifestations of cuticular drusen in Korean patients

Shin

Kong

Han

et al. 2020

Sci Rep

View full text Add to dashboard Cite

show abstract

“…This CFH variant was not detected in patients manifesting the combination of vitelliform lesion and cuticular drusen. [13][14][15]…”

mentioning

confidence: 99%

Association of Pattern Dystrophy With an HTRA1 Single-Nucleotide Polymorphism

Jaouni¹,

Averbukh²,

Burstyn‐Cohen³

et al. 2012

Arch Ophthalmol

View full text Add to dashboard Cite

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.

show abstract

“…40,42,43 However, in our cohort the prevalence of cuticular drusen was higher and 32% of the patients with cuticular drusen had a positive family history of AMD compared to 44% of the patients in a study of Grassi et al 40 Previously, our group demonstrated that heterozygous loss-of-function mutations in the CFH gene are found among family members with cuticular drusen. 35,41 In addition, rare highly penetrant variants in the CFI gene have been identified in patients with cuticular drusen.…”

Section: Familial and Sporadic Amd: Phenotypic Differences And Similamentioning

confidence: 84%

Clinical Characteristics of Familial and Sporadic Age-Related Macular Degeneration: Differences and Similarities

Saksens

Kersten

Groenewoud

et al. 2014

Invest. Ophthalmol. Vis. Sci.

View full text Add to dashboard Cite

show abstract

Pseudo-Vitelliform Macular Detachment and Cuticular Drusen: Exclusion of 6 Candidate Genes

Abstract: Screening of 6 candidate genes detected possibly disease-associated mutations in only 3/28 (10.7%) of patients presenting with PVMD/CD, eliminating these genes as causal for this phenotype.

Cited by 17 publications

References 29 publications

Clinical manifestations of cuticular drusen in Korean patients

Clinical manifestations of cuticular drusen in Korean patients

Association of Pattern Dystrophy With an HTRA1 Single-Nucleotide Polymorphism

Clinical Characteristics of Familial and Sporadic Age-Related Macular Degeneration: Differences and Similarities

Contact Info

Product

Resources

About