Late-onset Retinal Degeneration

Description

Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.

Clinical Features

Top most frequent phenotypes and symptoms related to Late-onset Retinal Degeneration

  • Blindness
  • Visual loss
  • Rod-cone dystrophy
  • Scarring
  • Retinopathy
  • Nyctalopia
  • Retinal degeneration
  • Retinal dystrophy
  • Macular degeneration
  • Abnormal electroretinogram

And another 7 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Late-onset Retinal Degeneration Is also known as lord, autosomal dominant late-onset retinal degeneration, retinal degeneration, late-onset, autosomal dominant.

Researches and researchers

Doctors, researchs, and experts related to Late-onset Retinal Degeneration extracted from public data.

Late-onset Retinal Degeneration Experts map



Current Researchs and researchers

  • TÜBINGEN — Pr Bernd WISSINGER

    Investigator of research project - Manager of registry - Manager of biobank/collection - Coordinator of research network - Director of laboratory

    • Institution/s:
      — Forschungsinstitut für Augenheilkunde, Department für Augenheilkunde Tübingen
    • Research area/topic::

      RETNET: European Retinal Research Training Network



Mendelian

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Late-onset Retinal Degeneration 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 %
Macular Degeneration Panel.

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

RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, RAX2, IMPG2, HMCN1, CNGB3, CTNNA1, MFSD8, DRAM2, EFEMP1, ABCA4, FBLN5, FSCN2, GUCA1B, IMPG1 , (...)

View the complete list with 4 more genes
Specificity
5 %
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 %
Retinal degeneration late-onset, AD (sequence analysis of C1QTNF5 gene).

By CGC Genetics (Portugal).

C1QTNF5
Specificity
100 %
Genes
100 %
Stargardt disease and macular distrophy (NGS panel for 14 genes).

By CGC Genetics (Portugal).

RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, RDH12, CNGB3, ABCA4, FSCN2, IMPG1, PROM1, PRPH2
Specificity
8 %
Genes
100 %
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RHO, ROM1, RP1, RPE65, SEMA4A, BEST1, CA4, C1QTNF5, PRPF31, KLHL7, PRPF6, PRPF8, PRPF3, PITPNM3, EYS, TOPORS, CRB1, CRX, EMC1, SNRNP200 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, SAG, SEMA4A, TULP1, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, ADGRA3, CACNA1F, C1QTNF5, CDHR1 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RLBP1, RPGR, RS1, TIMP3, BEST1, RPGRIP1, C1QTNF5, ELOVL4, RP1L1, CDH3, IMPG2, RDH12, CNGB3, CERKL, CRB1, EFEMP1, ABCA4, FSCN2, GUCA1B, PROM1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Genetic Syndrome Finder

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