Occult Macular Dystrophy

Description

Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.

Clinical Features

Top most frequent phenotypes and symptoms related to Occult Macular Dystrophy

  • Visual impairment
  • Depressivity
  • Visual loss
  • Reduced visual acuity
  • Retinopathy
  • Progressive visual loss
  • Amblyopia
  • Cone/cone-rod dystrophy
  • Abnormality of color vision
  • Macular dystrophy

And another 7 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

Occult Macular Dystrophy Is also known as ocmd, omd.

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.

Occult Macular 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 %
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 %
RP1L1.

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

RP1L1
Specificity
100 %
Genes
100 %
Occult macular dystrophy (sequence analysis of RP1L1 gene).

By CGC Genetics (Portugal).

RP1L1
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 %
Retinitis pigmentosa (NGS panel for 72 genes).

By CGC Genetics (Portugal).

RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TUB, TULP1, USH2A, CLRN1, BEST1, ARL6, CA4, ADGRA3, PRPF31, KLHL7 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes).

By CGC Genetics (Portugal).

RHO, RLBP1, RP1, RP2, RPE65, RPGR, SAG, TUB, TULP1, USH2A, BEST1, ADGRA3, RP1L1, ARL2BP, DHX38, NMNAT1, RDH11, IMPG2, RDH12, TTC8 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %

You can get up to 16 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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