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IllnessVitreoretinopathy, exsudative familial; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Vitreoretinopathy, exsudative familial, containing 10 core candidate genes and altogether 23 curated genes according to the clinical signs

ID
VP0250
Number of genes
21 Accredited laboratory test
Examined sequence length
16,8 kb (Core-/Core-canditate-Genes)
49,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CAPN51923NM_004055.5AD
FZD41614NM_012193.4AD
KCNJ13285NM_001172416.1AD, AR
LRP54848NM_002335.4AD, AR
NDP402NM_000266.4XLR
RS1675NM_000330.4XL
TSPAN12918NM_012338.4AD
TUBGCP42001NM_014444.5AR
VCAN1968NM_004385.5 AD
ZNF4082163NM_024741.3AD
ATOH7459NM_145178.4AR
BEST11758NM_004183.4AD, AR
COL11A15421NM_001854.4AD, AR
COL11A25211NM_080680.3AD, AR
COL18A14560NM_001379500.1AR
COL2A14464NM_001844.5AD
COL9A12766NM_001851.6AR
CTNNB12346NM_001904.4AD
KIF113171NM_004523.4AD
NR2E31234NM_014249.4AD, AR
RCBTB11596NM_018191.4AD, AR

Informations about the disease

Clinical Comment

Familial exudative vitreoretinopathy can lead to progressive vision loss as the retina is attacked. The disease reduces the blood supply, especially at the retinal edges. The symptoms of familial exudative vitreoretinopathy vary widely, even within the same family. In many affected people, the retinal abnormalities do not cause any visual problems. In others, the reduced blood supply causes the retina to fold, tear or even detach. Other eye abnormalities are also possible, such as strabismus and leukocoria. Some patients also show reduced bone mineral density. Mutations in the FZD4, LRP5, NDP, TSPAN12 and ZNF408 genes can cause the disease with very similar symptoms, although reduced bone mineral density is often observed especially due to mutations of the LRP5 gene. Familial exsudative vitreoretinopathy is inherited differently depending on the gene affected. Most often, the disease is caused by mutations in the FZD4 or LRP5 genes with autosomal dominant inheritance. In the case of LRP5 mutations, the disease can also be inherited in an autosomal recessive manner. Mutations in the NDP gene cause X-linked recessive vitreoretinopathy. The differential diagnosis includes many other genes with (partly) very similar symptoms, such as the Stickler syndrome genes (COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3) etc. In a few cases of familial exudative vitreoretinopathy, however, a molecular genetic cause cannot be determined at present. Therefore, a negative DNA test result does not exclude the clinical diagnosis.

References: https://www.ncbi.nlm.nih.gov/books/NBK1331/

https://www.ncbi.nlm.nih.gov/books/NBK3821/

https://www.ncbi.nlm.nih.gov/books/NBK1302/

 

Synonyms
  • Sympt.: incomplete development of retinal vasculature: from blind to mildly affected
  • Allelic: Bestrophinopathy, AR (BEST1)
  • Allelic: Bone mineral density variability 1 (LRP5)
  • Allelic: Hyperostosis, endosteal (LRP5)
  • Allelic: Leber congenital amaurosis 16 (KCNJ13)
  • Allelic: Macular dystrophy, patterned, 2 (CTNNA1)
  • Allelic: Macular dystrophy, vitelliform, 2 (BEST1)
  • Allelic: Microcornea, rod-cone dystrophy, cataract + posterior staphyloma (BEST1)
  • Allelic: Norrie disease (NDP)
  • Allelic: Osteopetrosis, AD 1 (LRP5)
  • Allelic: Osteoporosis (LRP5)
  • Allelic: Osteoporosis-pseudoglioma syndrome (LRP5)
  • Allelic: Osteosclerosis (LRP5)
  • Allelic: Polycystic liver disease 4 with/-out kidney cysts (LRP5)
  • Allelic: Retinitis pigmentosa 37 (NR2E3)
  • Allelic: Retinitis pigmentosa 50 (BEST1)
  • Allelic: Retinitis pigmentosa 72 (ZNF408)
  • Allelic: Retinitis pigmentosa, concentric (BEST1)
  • Allelic: Retinopathy of prematurity (FZD4)
  • Allelic: Retinoschisis (RS1)
  • Allelic: van Buchem disease, type 2 (LRP5)
  • Enhanced S-cone syndrome (NR2E3)
  • Exudative vitreoretinopathy 1 [Criswick-Schepens syndrome] (FZD4)
  • Exudative vitreoretinopathy 2, XL (NDP)
  • Exudative vitreoretinopathy 4 (LRP5)
  • Exudative vitreoretinopathy 5 (TSPAN12)
  • Exudative vitreoretinopathy 6 (ZNF408)
  • Exudative vitreoretinopathy 7 (CTNNB1)
  • Exudative vitreoretinopathy [MONDO:0019516] (CTNNA1)
  • Knobloch syndrome, type 1 (COL18A1)
  • Marshall syndrome (COL11A1)
  • Microcephaly + chorioretinopathy, AR, 3 (TUBGCP4)
  • Microcephaly with/-out chorioretinopathy, lymphedema/mental retardation (KIFF11)
  • Myopia, high, with cataract and vitreoretinal degeneration (P3H2)
  • Persistent hyperplastic primary vitreous, AR (ATOH7)
  • Retinal dystrophy with/-out extraocular anomalies (RCBTB1)
  • Retinochisis (RS1)
  • Snowflake vitreoretinal degeneration (KCNJ13)
  • Stickler sydrome, type I, nonsyndromic ocular (COL2A1)
  • Stickler syndrome, type I (COL2A1)
  • Stickler syndrome, type II (COL11A1)
  • Stickler syndrome, type III (COL11A2)
  • Stickler syndrome, type IV (COL9A1)
  • Vitreoretinochoroidopathy (BEST1)
  • Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
  • Vitreoretinopathy, neovascular inflammatory (CAPN5)
  • Wagner syndrome 1 (VCAN)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined