Limits...
Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.

Yang H, Li S, Xiao X, Wang P, Guo X, Zhang Q - Mol. Vis. (2012)

Bottom Line: The coding exons and adjacent intronic regions of FZD4 and LRP5 were amplified with polymerase chain reaction, and the resulting amplicons were analyzed with Sanger sequencing.The phenotypes of the patients with the mutations showed great variability.Our findings provide an overview of the mutation spectrum and frequency of FZD4 and LRP5 in Chinese patients with FEVR and emphasize the complexity of FEVR mutations and phenotypes.

View Article: PubMed Central - PubMed

Affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, PR China.

ABSTRACT

Purpose: To identify mutations in FZD4 and LRP5 in 49 Chinese families with familial exudative vitreoretinopathy (FEVR) and to reveal the mutation spectrum and frequency of these genes in the Chinese population.

Methods: Clinical data and genomic DNA were collected for patients from 49 families with FEVR. The coding exons and adjacent intronic regions of FZD4 and LRP5 were amplified with polymerase chain reaction, and the resulting amplicons were analyzed with Sanger sequencing.

Results: Eleven mutations were detected in 11 of the 49 families (22.4%), including five mutations in the FZD4 gene in six families and six mutations in the LRP5 gene in five families. Of the 11 mutations, eight were novel. Two families had the same FZD4 mutation, and one family had compound heterozygous mutations in LRP5. The phenotypes of the patients with the mutations showed great variability.

Conclusions: Our findings provide an overview of the mutation spectrum and frequency of FZD4 and LRP5 in Chinese patients with FEVR and emphasize the complexity of FEVR mutations and phenotypes.

Show MeSH

Related in: MedlinePlus

Ocular changes in affected individuals with an FZD4 or LRP5 mutation. The individual ID is indicated on the top left of each picture, which is the same as in Figure 2 and Table 2. Signs of FEVR included retinal detachment (top left), falciform retinal fold (top middle), temporal dragging of optic disc (top right), peripheral avascular zone and brush-like peripheral vessels (middle left), shell-like peripheral vessel terminatio and neovascularization (center), peripheral fibrovascular proliferation (middle right), lens dislocation (bottom left), peripheral exudates (bottom middle), temporal dragging of optic disc, and peripheral fibrous proliferation (bottom right).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC3472927&req=5

f4: Ocular changes in affected individuals with an FZD4 or LRP5 mutation. The individual ID is indicated on the top left of each picture, which is the same as in Figure 2 and Table 2. Signs of FEVR included retinal detachment (top left), falciform retinal fold (top middle), temporal dragging of optic disc (top right), peripheral avascular zone and brush-like peripheral vessels (middle left), shell-like peripheral vessel terminatio and neovascularization (center), peripheral fibrovascular proliferation (middle right), lens dislocation (bottom left), peripheral exudates (bottom middle), temporal dragging of optic disc, and peripheral fibrous proliferation (bottom right).

Mentions: All 11 probands and their affected relatives with FZD4 or LRP5 mutations had ocular changes typical of FEVR (Table 2). Individuals with mutations may be asymptomatic or blind, with visual acuity ranging from normal to no light perception. Fundus changes varied significantly in the different patients, with mildly affected individuals showing brush-like or increased branching of the peripheral vessels, peripheral avascular zone, peripheral fibrous proliferation, and/or straightening of the temporal arcades (Figure 4). These signs were also prevalent in the “healthy eye” of the probands or affected relatives, especially under examination with fluorescein angiography. The affected eyes of the probands and the relatives showed more severe ocular changes, including temporal dragging of the optic disc, falciform retinal folds, neovascularization, exudates, tractional retinal detachment, and/or retrolenticular fibrotic masses.


Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.

Yang H, Li S, Xiao X, Wang P, Guo X, Zhang Q - Mol. Vis. (2012)

Ocular changes in affected individuals with an FZD4 or LRP5 mutation. The individual ID is indicated on the top left of each picture, which is the same as in Figure 2 and Table 2. Signs of FEVR included retinal detachment (top left), falciform retinal fold (top middle), temporal dragging of optic disc (top right), peripheral avascular zone and brush-like peripheral vessels (middle left), shell-like peripheral vessel terminatio and neovascularization (center), peripheral fibrovascular proliferation (middle right), lens dislocation (bottom left), peripheral exudates (bottom middle), temporal dragging of optic disc, and peripheral fibrous proliferation (bottom right).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3472927&req=5

f4: Ocular changes in affected individuals with an FZD4 or LRP5 mutation. The individual ID is indicated on the top left of each picture, which is the same as in Figure 2 and Table 2. Signs of FEVR included retinal detachment (top left), falciform retinal fold (top middle), temporal dragging of optic disc (top right), peripheral avascular zone and brush-like peripheral vessels (middle left), shell-like peripheral vessel terminatio and neovascularization (center), peripheral fibrovascular proliferation (middle right), lens dislocation (bottom left), peripheral exudates (bottom middle), temporal dragging of optic disc, and peripheral fibrous proliferation (bottom right).
Mentions: All 11 probands and their affected relatives with FZD4 or LRP5 mutations had ocular changes typical of FEVR (Table 2). Individuals with mutations may be asymptomatic or blind, with visual acuity ranging from normal to no light perception. Fundus changes varied significantly in the different patients, with mildly affected individuals showing brush-like or increased branching of the peripheral vessels, peripheral avascular zone, peripheral fibrous proliferation, and/or straightening of the temporal arcades (Figure 4). These signs were also prevalent in the “healthy eye” of the probands or affected relatives, especially under examination with fluorescein angiography. The affected eyes of the probands and the relatives showed more severe ocular changes, including temporal dragging of the optic disc, falciform retinal folds, neovascularization, exudates, tractional retinal detachment, and/or retrolenticular fibrotic masses.

Bottom Line: The coding exons and adjacent intronic regions of FZD4 and LRP5 were amplified with polymerase chain reaction, and the resulting amplicons were analyzed with Sanger sequencing.The phenotypes of the patients with the mutations showed great variability.Our findings provide an overview of the mutation spectrum and frequency of FZD4 and LRP5 in Chinese patients with FEVR and emphasize the complexity of FEVR mutations and phenotypes.

View Article: PubMed Central - PubMed

Affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, PR China.

ABSTRACT

Purpose: To identify mutations in FZD4 and LRP5 in 49 Chinese families with familial exudative vitreoretinopathy (FEVR) and to reveal the mutation spectrum and frequency of these genes in the Chinese population.

Methods: Clinical data and genomic DNA were collected for patients from 49 families with FEVR. The coding exons and adjacent intronic regions of FZD4 and LRP5 were amplified with polymerase chain reaction, and the resulting amplicons were analyzed with Sanger sequencing.

Results: Eleven mutations were detected in 11 of the 49 families (22.4%), including five mutations in the FZD4 gene in six families and six mutations in the LRP5 gene in five families. Of the 11 mutations, eight were novel. Two families had the same FZD4 mutation, and one family had compound heterozygous mutations in LRP5. The phenotypes of the patients with the mutations showed great variability.

Conclusions: Our findings provide an overview of the mutation spectrum and frequency of FZD4 and LRP5 in Chinese patients with FEVR and emphasize the complexity of FEVR mutations and phenotypes.

Show MeSH
Related in: MedlinePlus