Human Phenotype Ontology 
Grandparent Node:
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Abnormal posterior eye segment morphology (HP:0004329)help
Parent Node:
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Abnormal posterior segment imaging (HP:0030601)help
..Starting node
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Abnormal fundus autofluorescence imaging (HP:0030602)help
Term ID: 30602
Name: Abnormal fundus autofluorescence imaging
Synonym:
Definition: Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference.
Comments:
Reference: HP:0030602
Genes and Diseases:
 
       Child Nodes:
........expandHyperautofluorescent retinal lesion (HP:0025158) help
................... HP:0030631 Hyperautofluorescent macular lesion
........expandHypoautofluorescent retinal lesion (HP:0025159) help
................... HP:0030632 Hypoautofluorescent macular lesion
........expandPerifoveal ring of hyperautofluorescence (HP:0030629) help
................... HP:0030633 Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence
................... HP:0030634 Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence
........expandIrregular central macular autofluorescence (HP:0030630) help

 Sister Nodes: 
..expandAbnormal fundus fluorescein angiography (HP:0030604) help
..expandAbnormal indocyanine green angiography (HP:0030605) help
..expandAbnormal optical coherence tomography (HP:0030603) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0ARSG CL E G H2290124102OMIM:618144USHER SYNDROME, TYPE IV; USH4
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0CFH CL E G H30754883ORPHA:75376Familial drusen86
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0CFI CL E G H34265394ORPHA:75376Familial drusen57
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0EFEMP1 CL E G H22023218ORPHA:75376Familial drusen54
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophy24
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophy124
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0IDH3A CL E G H34195384OMIM:619007RETINITIS PIGMENTOSA 90; RP90
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0IFT172 CL E G H2616030391OMIM:616394Retinitis pigmentosa 7148
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0KIAA1549 CL E G H5767022219OMIM:618613RETINITIS PIGMENTOSA 86; RP86
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0KIF3B CL E G H93716320OMIM:618955RETINITIS PIGMENTOSA 89; RP89
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0POMGNT1 CL E G H5562419139OMIM:617123RETINITIS PIGMENTOSA 76; RP76180
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0PROM1 CL E G H88429454OMIM:608051Macular dystrophy, retinal, 2110
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0PRPF31 CL E G H2612115446OMIM:600138Retinitis pigmentosa 1170
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0PRPF8 CL E G H1059417340OMIM:600059Retinitis pigmentosa 1394
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophy159
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0RAX2 CL E G H8483918286OMIM:62010252
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0RPGR CL E G H610310295OMIM:304020Cone-rod dystrophy, X-linked, 1200
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0RPGR CL E G H610310295OMIM:300029Retinitis pigmentosa 3200
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0TIMP3 CL E G H707811822ORPHA:59181Sorsby pseudoinflammatory fundus dystrophyHP:0040282 - Frequent95
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0TLCD3B CL E G H8372325295OMIM:619531CONE-ROD DYSTROPHY 22; CORD22
HP:0030602HP:0030602Abnormal fundus autofluorescence imaging0TTLL5 CL E G H2309319963OMIM:615860Cone-Rod dystrophy 199
HP:0030602HP:0030630Irregular central macular autofluorescence1 CL E G H
HP:0030602HP:0030629Perifoveal ring of hyperautofluorescence1AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0030602HP:0025158Hyperautofluorescent retinal lesion1ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0030602HP:0025158Hyperautofluorescent retinal lesion1ARSG CL E G H2290124102OMIM:618144USHER SYNDROME, TYPE IV; USH4
HP:0030602HP:0025158Hyperautofluorescent retinal lesion1BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0030602HP:0025158Hyperautofluorescent retinal lesion1CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0030602HP:0025158Hyperautofluorescent retinal lesion1CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0030602HP:0025159Hypoautofluorescent retinal lesion1CFH CL E G H30754883ORPHA:75376Familial drusen86
HP:0030602HP:0030629Perifoveal ring of hyperautofluorescence1CFH CL E G H30754883ORPHA:75376Familial drusenHP:0040282 - Frequent86
HP:0030602HP:0025158Hyperautofluorescent retinal lesion1CFH CL E G H30754883ORPHA:75376Familial drusen86
HP:0030602HP:0030629Perifoveal ring of hyperautofluorescence1CFI CL E G H34265394ORPHA:75376Familial drusenHP:0040282 - Frequent57
HP:0030602HP:0025159Hypoautofluorescent retinal lesion1CFI CL E G H34265394ORPHA:75376Familial drusen57
HP:0030602HP:0025158Hyperautofluorescent retinal lesion1CFI CL E G H34265394ORPHA:75376Familial drusen57
HP:0030602HP:0025159Hypoautofluorescent retinal lesion1CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0030602HP:0025158Hyperautofluorescent retinal lesion1EFEMP1 CL E G H22023218ORPHA:75376Familial drusen54
HP:0030602HP:0030629Perifoveal ring of hyperautofluorescence1EFEMP1 CL E G H22023218ORPHA:75376Familial drusenHP:0040282 - Frequent54
HP:0030602HP:0025159Hypoautofluorescent retinal lesion1EFEMP1 CL E G H22023218ORPHA:75376Familial drusen54
HP:0030602HP:0025158Hyperautofluorescent retinal lesion1GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophy24
HP:0030602HP:0030629Perifoveal ring of hyperautofluorescence1GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional24
HP:0030602HP:0030629Perifoveal ring of hyperautofluorescence1GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional124
HP:0030602HP:0025158Hyperautofluorescent retinal lesion1GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophy124
HP:0030602HP:0025158Hyperautofluorescent retinal lesion1IDH3A CL E G H34195384OMIM:619007RETINITIS PIGMENTOSA 90; RP90
HP:0030602HP:0030629Perifoveal ring of hyperautofluorescence1IFT172 CL E G H2616030391OMIM:616394Retinitis pigmentosa 7148
HP:0030602HP:0025158Hyperautofluorescent retinal lesion1KIAA1549 CL E G H5767022219OMIM:618613RETINITIS PIGMENTOSA 86; RP86
HP:0030602HP:0025158Hyperautofluorescent retinal lesion1KIF3B CL E G H93716320OMIM:618955RETINITIS PIGMENTOSA 89; RP89
HP:0030602HP:0025158Hyperautofluorescent retinal lesion1POMGNT1 CL E G H5562419139OMIM:617123RETINITIS PIGMENTOSA 76; RP76180
HP:0030602HP:0030629Perifoveal ring of hyperautofluorescence1PROM1 CL E G H88429454OMIM:608051Macular dystrophy, retinal, 2.110
HP:0030602HP:0030629Perifoveal ring of hyperautofluorescence1PRPF31 CL E G H2612115446OMIM:600138Retinitis pigmentosa 1170
HP:0030602HP:0030629Perifoveal ring of hyperautofluorescence1PRPF8 CL E G H1059417340OMIM:600059Retinitis pigmentosa 1394
HP:0030602HP:0025158Hyperautofluorescent retinal lesion1PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophy159
HP:0030602HP:0030629Perifoveal ring of hyperautofluorescence1PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional159
HP:0030602HP:0030629Perifoveal ring of hyperautofluorescence1RAX2 CL E G H8483918286OMIM:62010252
HP:0030602HP:0025159Hypoautofluorescent retinal lesion1RPGR CL E G H610310295OMIM:304020Cone-rod dystrophy, X-linked, 1200
HP:0030602HP:0025159Hypoautofluorescent retinal lesion1RPGR CL E G H610310295OMIM:300029Retinitis pigmentosa 3200
HP:0030602HP:0025158Hyperautofluorescent retinal lesion1TLCD3B CL E G H8372325295OMIM:619531CONE-ROD DYSTROPHY 22; CORD22
HP:0030602HP:0030629Perifoveal ring of hyperautofluorescence1TLCD3B CL E G H8372325295OMIM:619531CONE-ROD DYSTROPHY 22; CORD22
HP:0030602HP:0025159Hypoautofluorescent retinal lesion1TLCD3B CL E G H8372325295OMIM:619531CONE-ROD DYSTROPHY 22; CORD22
HP:0030602HP:0030629Perifoveal ring of hyperautofluorescence1TTLL5 CL E G H2309319963OMIM:615860Cone-Rod dystrophy 199
HP:0030602HP:0030634Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence2 CL E G H
HP:0030602HP:0030633Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence2 CL E G H
HP:0030602HP:0030631Hyperautofluorescent macular lesion2ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0030602HP:0030631Hyperautofluorescent macular lesion2ARSG CL E G H2290124102OMIM:618144USHER SYNDROME, TYPE IV; USH4
HP:0030602HP:0030631Hyperautofluorescent macular lesion2BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0030602HP:0030631Hyperautofluorescent macular lesion2CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0030602HP:0030631Hyperautofluorescent macular lesion2CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0030602HP:0030631Hyperautofluorescent macular lesion2CFH CL E G H30754883ORPHA:75376Familial drusenHP:0040282 - Frequent86
HP:0030602HP:0030632Hypoautofluorescent macular lesion2CFH CL E G H30754883ORPHA:75376Familial drusenHP:0040282 - Frequent86
HP:0030602HP:0030632Hypoautofluorescent macular lesion2CFI CL E G H34265394ORPHA:75376Familial drusenHP:0040282 - Frequent57
HP:0030602HP:0030631Hyperautofluorescent macular lesion2CFI CL E G H34265394ORPHA:75376Familial drusenHP:0040282 - Frequent57
HP:0030602HP:0030632Hypoautofluorescent macular lesion2EFEMP1 CL E G H22023218ORPHA:75376Familial drusenHP:0040282 - Frequent54
HP:0030602HP:0030631Hyperautofluorescent macular lesion2EFEMP1 CL E G H22023218ORPHA:75376Familial drusenHP:0040282 - Frequent54
HP:0030602HP:0030631Hyperautofluorescent macular lesion2GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophyHP:0040281 - Very frequent24
HP:0030602HP:0030631Hyperautofluorescent macular lesion2GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophyHP:0040281 - Very frequent124
HP:0030602HP:0030631Hyperautofluorescent macular lesion2POMGNT1 CL E G H5562419139OMIM:617123RETINITIS PIGMENTOSA 76; RP76180
HP:0030602HP:0030631Hyperautofluorescent macular lesion2PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophyHP:0040281 - Very frequent159
HP:0030602HP:0030632Hypoautofluorescent macular lesion2RPGR CL E G H610310295OMIM:304020Cone-rod dystrophy, X-linked, 1200
HP:0030602HP:0034272Perifoveal hypoautofluorescence2RPGR CL E G H610310295OMIM:300029Retinitis pigmentosa 3200
HP:0030602HP:0030631Hyperautofluorescent macular lesion2TLCD3B CL E G H8372325295OMIM:619531CONE-ROD DYSTROPHY 22; CORD22


Genes (26) :AIRE ARL6 ARSG BBS1 CCDC28B CFAP418 CFH CFI CWC27 EFEMP1 GUCA1A GUCY2D IDH3A IFT172 KIAA1549 KIF3B POMGNT1 PROM1 PRPF31 PRPF8 PRPH2 RAX2 RPGR TIMP3 TLCD3B TTLL5

Diseases (21) :OMIM:240300 OMIM:209900 OMIM:618144 OMIM:617406 ORPHA:75376 OMIM:250410 ORPHA:75377 OMIM:619007 OMIM:616394 OMIM:618613 OMIM:618955 OMIM:617123 OMIM:608051 OMIM:600138 OMIM:600059 OMIM:620102 OMIM:304020 OMIM:300029 ORPHA:59181 OMIM:619531 OMIM:615860
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.