Disease #03367 (OCMD (dystrophy, macular, occult (OCMD)), OMIM:613587)

Official abbreviation OCMD
Name dystrophy, macular, occult (OCMD)
OMIM ID 613587
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 40
Phenotype entries for this disease 39
Associated with 1 gene RP1L1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-03-11 14:43:46 +01:00 (CET)


Individuals

40 entries on 1 page. Showing entries 1 - 40.
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00060101 OD5 PubMed: Davidson 2013 family history one F sibling reported affected F - United Kingdom (Great Britain) Europe, white - - - - OCMD age presentation late 50s ; fundus myopic degeneration, peripapillary atrophy ; fundus autofluorescence imaging normal foveal; foveal appearance on spectral‐domain optical coherence tomography myopic changes ; full‐field electroretinograms normal; pattern electroretinogram P50 components severely subnormal RP1L1 RP1L1 1 1 Alice Davidson
00060102 OD4 PubMed: Davidson 2013 no family history M - United Kingdom (Great Britain) Europe, white - - - - OCMD age presentation 20s ; fundus normal ; fundus autofluorescence imaging normal; foveal appearance on spectral‐domain optical coherence tomography irregular ISe line ; full‐field electroretinograms normal; pattern electroretinogram P50 components severely subnormal RP1L1 RP1L1 1 1 Alice Davidson
00060103 OD7 PubMed: Davidson 2013 no family history F - United Kingdom (Great Britain) Asia-South - - - - OCMD age presentation 40s ; fundus normal ; fundus autofluorescence imaging irregular foveal; foveal appearance on spectral‐domain optical coherence tomography focal disruption of the ISe line in the foveola; irregular ISe line ; Scotopic full‐field electroretinograms normal; photopic 30 Hz ERG mildly delayed. pattern electroretinogram P50 components subnormal RP1L1 RP1L1 1 1 Alice Davidson
00060104 OD11 PubMed: Davidson 2013 no family history M - United Kingdom (Great Britain) Europe, white - - - - OCMD age presentation early 50s ; fundus normal ; fundus autofluorescence imaging normal; foveal appearance on spectral‐domain optical coherence tomography not available ; Scotopic full‐field electroretinograms normal; photopic 30 Hz ERG mildly delayed; pattern electroretinogram P50 components severely subnormal; central multifocal electroretinograms subnormal RP1L1 RP1L1 1 1 Alice Davidson
00060105 OD12 PubMed: Davidson 2013 family history one F sibling reported affected F - United Kingdom (Great Britain) Asia-South - - - - OCMD age presentation late 20s ; fundus normal ; fundus autofluorescence imaging irregular foveal; foveal appearance on spectral‐domain optical coherence tomography focal disruption of the ISe line in the foveola; irregular ISe line; significant thinning ; full‐field electroretinograms normal; pattern electroretinogram P50 components severely subnormal; widespread multifocal electroretinograms reduction RP1L1 RP1L1 1 1 Alice Davidson
00060106 OD13 PubMed: Davidson 2013 family, 3 affected F - United Kingdom (Great Britain) Europe, white - - - - OCMD age presentation first decade of life ; fundus normal right eye, small area of atrophy left eye (coloboma) ; fundus autofluorescence imaging irregular foveal, consistent with coloboma left eye; foveal appearance on spectral‐domain optical coherence tomography focal disruption of the ISe line in the foveola of re; consistent with coloboma in the le ; full‐field electroretinograms normal; pattern electroretinogram P50 components subnormal; central multifocal electroretinograms subnormal. RP1L1 RP1L1 1 3 Alice Davidson
00060107 OD16 PubMed: Davidson 2013 no family history M - United Kingdom (Great Britain) Europe, white - - - - OCMD age presentation 15y; fundus normal ; fundus autofluorescence imaging irregular foveal; foveal appearance on spectral‐domain optical coherence tomography disruption of the ISe line ; full‐field electroretinograms normal; pattern electroretinogram P50 components normal; central multifocal electroretinograms markedly subnormal RP1L1 RP1L1 2 1 Alice Davidson
00060108 OD20 PubMed: Davidson 2013 family, affected father/son M - United Kingdom (Great Britain) Europe, white - - - - OCMD age presentation late 30s ; fundus normal ; fundus autofluorescence imaging normal; foveal appearance on spectral‐domain optical coherence tomography focal disruption of the ISe line in the foveola; irregular ISe line ; full‐field electroretinograms normal; pattern electroretinogram P50 components subnormal; central multifocal electroretinograms abnormal RP1L1 RP1L1 1 2 Alice Davidson
00060109 OD24 PubMed: Davidson 2013 family, affected brother/sister M - United Kingdom (Great Britain) Europe, white - - - - OCMD age presentation late 60s ; fundus normal ; fundus autofluorescence imaging irregular foveal; foveal appearance on spectral‐domain optical coherence tomography focal disruption of the ISe line in the foveola; irregular ISe line ; full‐field electroretinograms normal; pattern electroretinogram P50 components subnormal RP1L1 RP1L1 1 2 Alice Davidson
00060110 OD27 PubMed: Davidson 2013 no family history M - United Kingdom (Great Britain) Asia-South - - - - OCMD age presentation mid 20s ; fundus normal ; fundus autofluorescence imaging irregular foveal; foveal appearance on spectral‐domain optical coherence tomography focal disruption of the ISe line in the foveola; irregular ISe line ; Normal full‐field electroretinogramss; pattern electroretinogram P50 components severely subnormal RP1L1 RP1L1 2 1 Alice Davidson
00358752 - PubMed: Davidson 2013 father of OD13 M - United Kingdom (Great Britain) - - - - - OCMD asymptomatic; fundus normal ; fundus autofluorescence imaging normal; foveal appearance on spectral‐domain optical coherence tomography normal ; full‐field electroretinograms normal; pattern electroretinogram P50 components normal; multifocal electroretinograms normal RP1L1 RP1L1 1 1 LOVD
00358753 - PubMed: Davidson 2013 brother of OD13 M - United Kingdom (Great Britain) - - - - - OCMD age presentation asymptomatic; fundus normal ; fundus autofluorescence imaging normal; foveal appearance on spectral‐domain optical coherence tomography normal ; Not availabl RP1L1 RP1L1 1 1 LOVD
00358754 - PubMed: Davidson 2013 father of OD20 M - United Kingdom (Great Britain) - - - - - OCMD asymptomatic; fundus normal right eye macular drusen, left eye epiretinal membrane ; fundus autofluorescence imaging normal; foveal appearance on spectral‐domain optical coherence tomography consistent with re macular drusen and le epiretinal membrane ; full‐field electroretinograms normal; pattern electroretinogram P50 components normal on left and mildly subnormal on right normal central multifocal electroretinogramss but mildly subnormal paracentral multifocal electroretinograms right eye RP1L1 RP1L1 1 1 LOVD
00358755 - PubMed: Davidson 2013 sister of OD24 F - United Kingdom (Great Britain) - - - - - OCMD asymptomatic; fundus normal ; fundus autofluorescence imaging normal; foveal appearance on spectral‐domain optical coherence tomography normal ; full‐field electroretinograms normal; pattern electroretinogram P50 components normal central; multifocal electroretinograms normal RP1L1 RP1L1 1 1 LOVD
00358756 Fam1PatIII2 PubMed: Fujinami 2016 family, 2 affected F - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone RP1L1 RP1L1 1 2 LOVD
00358757 Fam1PatII2 PubMed: Fujinami 2016 - F - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone RP1L1 RP1L1 1 1 LOVD
00358758 Fam2PatII1 PubMed: Fujinami 2016 - F - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone RP1L1 RP1L1 1 1 LOVD
00358759 Fam3PatII1 PubMed: Fujinami 2016 - M - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone RP1L1 RP1L1 1 1 LOVD
00358760 Fam4PatIII1 PubMed: Fujinami 2016 - M - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy pale disc; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone RP1L1 RP1L1 1 1 LOVD
00358761 Fam5PatII1 PubMed: Fujinami 2016 - M - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone RP1L1 RP1L1 1 1 LOVD
00358762 Fam6PatII2 PubMed: Fujinami 2016 - M - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone RP1 RP1 1 1 LOVD
00358763 Fam7PatII2 PubMed: Fujinami 2016 family, 2 affected M - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy pale disc; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone RP1L1 RP1L1 1 2 LOVD
00358764 Fam7PatI2 PubMed: Fujinami 2016 - F - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy pale disc; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone RP1L1 RP1L1 1 1 LOVD
00358765 Fam8PatII2 PubMed: Fujinami 2016 - M - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography no blurring ellipsoid zone, absence interdigitation zone RP1L1 - - 1 LOVD
00358766 Fam9PatII1 PubMed: Fujinami 2016 - M - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone RP1L1 RP1L1 1 1 LOVD
00358767 Fam10PatII4 PubMed: Fujinami 2016 - F - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone RP1L1 RP1L1 1 1 LOVD
00358768 Fam11PatII1 PubMed: Fujinami 2016 - M - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone RP1L1 RP1L1 3 1 LOVD
00358769 Fam12PatII1 PubMed: Fujinami 2016 - M - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography no blurring ellipsoid zone, no absence interdigitation zone RP1L1 RP1L1 2 1 LOVD
00358770 Fam13PatII3 PubMed: Fujinami 2016 - F - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography no blurring ellipsoid zone, no absence interdigitation zone RP1L1 - - 1 LOVD
00358771 Fam14PatII1 PubMed: Fujinami 2016 - F - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone RP1L1 RP1L1 2 1 LOVD
00358772 Fam15PatII2 PubMed: Fujinami 2016 - M - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography no blurring ellipsoid zone, absence interdigitation zone RP1, RP1L1 RP1 1 1 LOVD
00358773 Fam16PatII1 PubMed: Fujinami 2016 - M - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography no blurring ellipsoid zone, no absence interdigitation zone RP1L1 - - 1 LOVD
00358774 Fam17PatII1 PubMed: Fujinami 2016 - F - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography no blurring ellipsoid zone, no absence interdigitation zone RP1L1 - - 1 LOVD
00358775 Fam18PatII2 PubMed: Fujinami 2016 - F - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone RP1L1 RP1L1 1 1 LOVD
00358776 Fam19PatII4 PubMed: Fujinami 2016 - M - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy hard drusen; spectral‐domain optical coherence tomography no blurring ellipsoid zone, no absence interdigitation zone RP1L1 RP1L1 1 1 LOVD
00358777 Fam20PatII4 PubMed: Fujinami 2016 - M - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography no blurring ellipsoid zone, absence interdigitation zone RP1L1 - - 1 LOVD
00358778 Fam21PatII1 PubMed: Fujinami 2016 - F - Japan - - - - - OCMD ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography no blurring ellipsoid zone, absence interdigitation zone RP1L1, RP2 RP2 1 1 LOVD
00379794 IR_GS_0153 - - F - Korea, South (Republic) - - - - - OCMD HP:0030515, HP:0001123, HP:0030636, HP:0011003 - CRX 1 1 Jinu Han
00403992 184775 - - F no Germany - - - - - OCMD Retinal dystrophy, Abnormality of metabolism/homeostasis, Somatic sensory dysfunction, Deep white matter hypodensities, Periventricular white matter hyperintensities, Optic neuritis RP1L1 RP1L1 1 1 Andreas Laner
00430544 Fam22 PubMed: Ben Yosef 2023 family, 1 affected F yes Israel Ethiopia;Jew - - - - OCMD - - RP1L1 1 1 Tamar Ben-Yosef
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