Bothnia Retinal Dystrophy
Description
Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens (see this term) in the posterior pole are also noted.
Clinical Features
Phenotypes and symptoms related to Bothnia Retinal Dystrophy
- Blindness
- Nyctalopia
- Retinal dystrophy
- Macular degeneration
- Abnormal electroretinogram
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
Bothnia Retinal Dystrophy Is also known as vÄsterbotten dystrophy, vasterbotten dystrophy.
Researches and researchers
Doctors, researchs, and experts related to Bothnia Retinal Dystrophy extracted from public data.
Bothnia Retinal Dystrophy Experts map
Current Researchs and researchers
-
Investigator of research project - Coordinator of research networkBIRMINGHAM — Pr Eamonn R MAHER
-
Institution/s:
— University of Birmingham School of Medicine, Institute of Biomedical Research, University of Birmingham
— Birmingham Women's NHS Foundation Trust
— Addenbrooke's Hospital -
Research area/topic::
National Autozygosity Mapping Resource
-
Institution/s:
-
Coordinator of research networkBIRMINGHAM — Ms Shanaz PASHA
-
Institution/s:
— Birmingham Women's NHS Foundation Trust -
Research area/topic::
National Autozygosity Mapping Resource
-
Institution/s:
-
Investigator of research project - Coordinator of research networkCAMBRIDGE — Pr Eamonn R MAHER
-
Institution/s:
— University of Birmingham School of Medicine, Institute of Biomedical Research, University of Birmingham
— Birmingham Women's NHS Foundation Trust
— Addenbrooke's Hospital -
Research area/topic::
National Autozygosity Mapping Resource
-
Institution/s:
Bothnia Retinal Dystrophy Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
RLBP1
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
RLBP1
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
RLBP1
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
RLBP1
Specificity
100 %
Genes
100 % |
![]() 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
Specificity
2 %
Genes
100 % |
![]() 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
Specificity
2 %
Genes
100 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
RLBP1
Specificity
100 %
Genes
100 % |
You can get up to 44 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET OMIM MESH Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 BLEEDING DISORDER, PLATELET-TYPE, 8; BDPLT8 WOLFRAM SYNDROME 1; WFS1 MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51; MRT51 ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2; EMPF2