Goldmann-favre Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).

Genes related to Goldmann-favre Syndrome

NR2E3
NRL

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Goldmann-favre Syndrome

Cataract
Edema
Blindness
Visual loss
Rod-cone dystrophy
Abnormality of the eye
Pallor
Retinopathy
Nyctalopia
Retinal degeneration

And another 8 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Goldmann-favre Syndrome Is also known as retinoschisis with early nyctalopia, enhanced s-cone syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Goldmann-favre Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NR2E3 Sequence Analysis. By Baylor Miraca Genetics Laboratories (United States). NR2E3 Specificity 100 % Genes 50 %
NR2E3 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories (United States). NR2E3 Specificity 100 % Genes 50 %
Retinitis Pigmentosa Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPP2, TULP1, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, C1QTNF5, CDHR1 , (...) View the complete list with 72 more genes Panel complete gene list RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPP2, TULP1, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, C1QTNF5, CDHR1, PRPF31, KLHL7, PRPF6, KIZ, ABHD12, RP1L1, ARL2BP, DHX38, PRPF8, PRPF3, PRPF4, MFRP, WDR19, IMPG2, POMGNT1, CHM, RD3, RDH12, ZNF408, TTC8, SPATA7, DHDDS, CLN3, CNGA1, CNGB1, EYS, TOPORS, CERKL, CYP4V2, CRB1, CRX, FLVCR1, OFD1, FAM161A, AGBL5, ZNF513, C8orf37, EMC1, CEP290, IFT140, SLC7A14, SNRNP200, LCA5, PRCD, ABCA4, PCARE, AIPL1, FSCN2, GUCA1B, GUCY2D, HK1, IDH3B, IMPDH1, LRAT, MAK, ARL3, MERTK, MVK, NEK2, NEUROD1, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRKCG, PROM1, BBS1, BBS2, RBP4, PRPH2, RGR Specificity 3 % Genes 100 %
NR2E3. By Institute for Human Genetics University Clinic Freiburg (Germany). NR2E3 Specificity 100 % Genes 50 %
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TULP1, USH2A, BEST1, RPGRIP1, CA4, CDHR1, PRPF31, KLHL7, PRPF8, PRPF3 , (...) View the complete list with 33 more genes Panel complete gene list RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TULP1, USH2A, BEST1, RPGRIP1, CA4, CDHR1, PRPF31, KLHL7, PRPF8, PRPF3, RD3, RDH12, TTC8, SPATA7, DHDDS, CNGA1, CNGB1, EYS, TOPORS, CERKL, CRB1, CRX, CEP290, SNRNP200, LCA5, PRCD, ABCA4, PCARE, AIPL1, FSCN2, GUCA1B, GUCY2D, IDH3B, IMPDH1, LRAT, MERTK, NR2E3, NRL, PDE6A, PDE6B, PROM1, PRPH2, RGR Specificity 4 % Genes 100 %
NR2E3 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). NR2E3 Specificity 100 % Genes 50 %
NR2E3. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). NR2E3 Specificity 100 % Genes 50 %
Retinitis pigmentosa type 37 (sequence analysis of NR2E3 gene). By CGC Genetics (Portugal). NR2E3 Specificity 100 % Genes 50 %

You can get up to 58 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MICROCEPHALY-MICROMELIA SYNDROME; MIMIS OROFACIODIGITAL SYNDROME XIV; OFD14 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1; F5F8D1