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

  • BIRMINGHAM — Pr Eamonn R MAHER

    Investigator of research project - Coordinator of research network

    • 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


  • BIRMINGHAM — Ms Shanaz PASHA

    Coordinator of research network

    • Institution/s:
      — Birmingham Women's NHS Foundation Trust
    • Research area/topic::

      National Autozygosity Mapping Resource


  • CAMBRIDGE — Pr Eamonn R MAHER

    Investigator of research project - Coordinator of research network

    • 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


Bothnia Retinal Dystrophy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

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 %
RLBP1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RLBP1
Specificity
100 %
Genes
100 %
RLBP1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RLBP1
Specificity
100 %
Genes
100 %
RLBP1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RLBP1
Specificity
100 %
Genes
100 %
RLBP1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

RLBP1
Specificity
100 %
Genes
100 %
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
Specificity
2 %
Genes
100 %
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
Specificity
2 %
Genes
100 %
RLBP1. Complete sequencing.

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 more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Genetic Syndrome Finder

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