Progressive Cone Dystrophy

Clinical Features

Phenotypes and symptoms related to Progressive Cone Dystrophy

  • Visual impairment
  • Photophobia
  • Retinal degeneration
  • Progressive visual loss
  • Abnormality of retinal pigmentation
  • Cone/cone-rod dystrophy
  • Abnormal electroretinogram
  • Abnormality of color vision
  • Bull's eye maculopathy
  • Progressive cone degeneration

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

Progressive Cone Dystrophy Is also known as cone dystrophy, autosomal dominant, cone dystrophy, retinal cone degeneration.

Researches and researchers

Doctors, researchs, and experts related to Progressive Cone Dystrophy extracted from public data.

Progressive Cone Dystrophy Experts map



Current Researchs and researchers

  • NIJMEGEN — Pr F.P.M. [Frans] CREMERS

    Investigator of research project

    • Institution/s:
      — Radboudumc - Radboud universitair medisch centrum
    • Research area/topic::

      Identification of the genetic causes of inherited retinal dystrophies


  • NIJMEGEN — Pr A.I. [Anneke] DEN HOLLANDER

    Clinical expert - Investigator of research project

    • Institution/s:
      — Radboudumc - Radboud universitair medisch centrum
    • Research area/topic::

      Identification of the genetic causes of inherited retinal dystrophies


Progressive Cone Dystrophy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %
Cone-Rod Dystrophy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, CNNM4, SEMA4A, TULP1, CFAP410, BEST1, RPGRIP1, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, EYS, ADAM9, CERKL , (...)

View the complete list with 16 more genes
Specificity
12 %
Genes
100 %
Achromatopsia - GNAT2 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

GNAT2
Specificity
100 %
Genes
25 %
GNAT2.

By Institute for Human Genetics University Clinic Freiburg (Germany).

GNAT2
Specificity
100 %
Genes
25 %
GNAT2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

GNAT2
Specificity
100 %
Genes
25 %
Achromatopsia 4 (sequence analysis of GNAT2 gene).

By CGC Genetics (Portugal).

GNAT2
Specificity
100 %
Genes
25 %
Cone-rod dystrophy (NGS panel of 36 genes).

By CGC Genetics (Portugal).

RGS9, RPGR, CNNM4, SEMA4A, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, ADAM9, CERKL, CRX , (...)

View the complete list with 15 more genes
Specificity
12 %
Genes
100 %
Leber Congenital Amaurosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, RD3, RDH12, SPATA7, INPP5E, CNGA3, CNGB3, CRB1, CRX, IQCB1, CEP290, SNRNP200, LCA5, AIPL1, DTHD1, GNAT2 , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
50 %

You can get up to 89 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Symptoms Checker

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