FALBI
MCID: FND001
MIFTS: 55

Fundus Albipunctatus (FALBI) malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Fundus Albipunctatus

Aliases & Descriptions for Fundus Albipunctatus:

Name: Fundus Albipunctatus 54 12 25 56 66 13 42 14 69
Retinitis Punctata Albescens 54 12 56 66 29 69
Pigmentary Retinal Dystrophy 12 25 29
Fundus Albipunctatus Retinitis Punctata Albescens, Included 54
Albipunctate Retinal Dystrophy 25
Lauber's Disease 25
Falbi 66
Rpa 66
Fa 66

Characteristics:

Orphanet epidemiological data:

56
fundus albipunctatus
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood;
retinitis punctata albescens
Inheritance: Autosomal recessive; Age of onset: Childhood;

HPO:

32
fundus albipunctatus:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 136880
Disease Ontology 12 DOID:11105
ICD10 33 H35.52
ICD9CM 35 362.74
SNOMED-CT 64 68222009
ICD10 via Orphanet 34 H35.5
UMLS 69 C0311338

Summaries for Fundus Albipunctatus

UniProtKB/Swiss-Prot : 66 Fundus albipunctatus: A form of fleck retina disease characterized by discrete uniform white dots over the entire fundus with greatest density in the mid-periphery and no macular involvement. Night blindness occurs. Inheritance can be autosomal dominant or autosomal recessive. Retinitis punctata albescens: A form of fleck retina disease characterized by aggregation of white flecks posteriorly in the retina, causing night blindness and delayed dark adaptation. It differs from fundus albipunctatus in being progressive and evolving to generalized atrophy of the retina.

MalaCards based summary : Fundus Albipunctatus, also known as retinitis punctata albescens, is related to rho-related retinitis punctata albescens and prph2-related fundus albipunctatus, and has symptoms including nyctalopia and retinal flecks. An important gene associated with Fundus Albipunctatus is RDH5 (Retinol Dehydrogenase 5), and among its related pathways/superpathways are Signaling by GPCR and Phototransduction. The drugs Antioxidants and Carotenoids have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotypes are Decreased viability in esophageal squamous lineage and nervous system

Disease Ontology : 12 A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement.

Genetics Home Reference : 25 Fundus albipunctatus is an eye disorder characterized by an impaired ability to see in low light (night blindness) and the presence of whitish-yellow flecks in the retina, which is the specialized light-sensitive tissue in the inner lining of the back of the eye (the fundus). The flecks are detected during an eye examination.

OMIM : 54 This form of fleck retina disease (see 228980) is characterized by discrete uniform white dots over the entire fundus... (136880) more...

Related Diseases for Fundus Albipunctatus

Diseases in the Fundus Albipunctatus family:

Prph2-Related Fundus Albipunctatus Rdh5-Related Fundus Albipunctatus
Rlbp1-Related Fundus Albipunctatus

Diseases related to Fundus Albipunctatus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 136)
id Related Disease Score Top Affiliating Genes
1 rho-related retinitis punctata albescens 12.1
2 prph2-related fundus albipunctatus 12.0
3 rdh5-related fundus albipunctatus 12.0
4 rlbp1-related fundus albipunctatus 12.0
5 fas-related autoimmune lymphoproliferative syndrome 11.8
6 fanconi anemia, complementation group a 11.8
7 autoimmune lymphoproliferative syndrome 11.6
8 friedreich ataxia 11.3
9 fetal alcohol syndrome 11.1
10 fetal alcohol spectrum disorder 11.0
11 ghose sachdev kumar syndrome 11.0
12 fanconi anemia, complementation group i 10.8
13 fanconi anemia, complementation group d2 10.8
14 fanconi anemia, complementation group n 10.8
15 fanconi anemia, complementation group j 10.8
16 fanconi anemia, complementation group o 10.8
17 fanconi anemia, complementation group g 10.8
18 fanconi anemia, complementation group b 10.8
19 fanconi anemia, complementation group f 10.8
20 fanconi anemia, complementation group l 10.8
21 fanconi anemia, complementation group d1 10.8
22 dianzani autoimmune lymphoproliferative disease 10.8
23 fanconi anemia, complementation group p 10.7
24 fanconi anemia, complementation group q 10.7
25 fanconi anemia, complementation group e 10.7
26 fanconi anemia, complementation group c 10.7
27 autoimmune lymphoproliferative syndrome, type iib 10.7
28 retinitis 10.3
29 lymphoma 10.3
30 leukemia 10.3
31 scn5a-related disorders 10.3 RHO RLBP1
32 colorectal adenoma 10.3
33 hepatitis 10.2
34 cone dystrophy 10.2
35 autosomal dominant congenital stationary night blindness 10.2 PRPH2 RHO
36 choriodal dystrophy, central areolar 2 10.2 PRPH2 RHO
37 glucocorticoid deficiency 3 10.2 PRPH2 RHO
38 thyroiditis 10.2
39 46xy sex reversal 3 10.2 GRK1 RHO
40 prostatitis 10.2
41 ichthyosis, congenital, autosomal recessive 3 10.2 RHO RPE65
42 retinitis pigmentosa 34 10.1 RHO RPE65
43 squamous cell carcinoma 10.1
44 lumbosacral plexus lesion 10.1 RHO RPE65
45 endotheliitis 10.1
46 adolescent idiopathic scoliosis 10.1 RLBP1 SAG
47 night blindness 10.1
48 melanoma 10.1
49 mental retardation epilepsy bulbous nose 10.1 RHO SAG
50 breast cancer 10.1

Graphical network of the top 20 diseases related to Fundus Albipunctatus:



Diseases related to Fundus Albipunctatus

Symptoms & Phenotypes for Fundus Albipunctatus

Symptoms by clinical synopsis from OMIM:

136880

Clinical features from OMIM:

136880

Human phenotypes related to Fundus Albipunctatus:

32
id Description HPO Frequency HPO Source Accession
1 nyctalopia 32 HP:0000662
2 retinal flecks 32 HP:0012045

GenomeRNAi Phenotypes related to Fundus Albipunctatus according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.17 GNAT1 PDE6B RBP3 RDH5 RHO RPE65

MGI Mouse Phenotypes related to Fundus Albipunctatus:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.85 CACNA1F GNAT1 GRK1 PDE6B PRPH2 RBP3
2 pigmentation MP:0001186 9.43 GNAT1 PDE6B PRPH2 RHO RLBP1 RPE65
3 vision/eye MP:0005391 9.36 CACNA1F GNAT1 GRK1 PDE6B PRPH2 RBP3

Drugs & Therapeutics for Fundus Albipunctatus

Drugs for Fundus Albipunctatus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antioxidants Phase 2, Phase 3
2 Carotenoids Phase 2, Phase 3
3 Micronutrients Phase 2, Phase 3
4 Protective Agents Phase 2, Phase 3
5 Trace Elements Phase 2, Phase 3
6 Vitamins Phase 2, Phase 3
7 Beta Carotene Nutraceutical Phase 2, Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil Recruiting NCT01680510 Phase 2, Phase 3
2 Treatment of Congenital Stationary Night Blindness With an Alga Containing High Dose of Beta Carotene Completed NCT00569023
3 The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Bardawil on Visual Functions im Patients With Retinitis Pigmentosa Completed NCT01256697
4 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

Search NIH Clinical Center for Fundus Albipunctatus

Cochrane evidence based reviews: fundus albipunctatus

Genetic Tests for Fundus Albipunctatus

Genetic tests related to Fundus Albipunctatus:

id Genetic test Affiliating Genes
1 Retinitis Punctata Albescens 29
2 Pigmentary Retinal Dystrophy 29

Anatomical Context for Fundus Albipunctatus

MalaCards organs/tissues related to Fundus Albipunctatus:

39
Retina, Eye

Publications for Fundus Albipunctatus

Articles related to Fundus Albipunctatus:

(show top 50) (show all 56)
id Title Authors Year
1
Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus. ( 28393863 )
2017
2
FUNDUS ALBIPUNCTATUS ASSOCIATED WITH CONE DYSFUNCTION. ( 27627638 )
2016
3
Fundus albipunctatus. ( 27217886 )
2016
4
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe). ( 25820994 )
2015
5
Fluorescence adaptive optics scanning laser ophthalmoscope for detection of reduced cones and hypoautofluorescent spots in fundus albipunctatus. ( 24922193 )
2014
6
RDH5 RETINOPATHY (FUNDUS ALBIPUNCTATUS) WITH PRESERVED ROD FUNCTION IN YOUNG CHINESE PATIENT. ( 25170858 )
2014
7
Cone Abnormalities in Fundus Albipunctatus Associated With RDH5 Mutations Assessed Using Adaptive Optics Scanning Laser Ophthalmoscopy. ( 24246574 )
2013
8
Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients. ( 22815624 )
2012
9
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families. ( 22736946 )
2012
10
Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature. ( 22669287 )
2012
11
Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families. ( 21447491 )
2011
12
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus). ( 21529959 )
2011
13
Fundus albipunctatus associated with compound heterozygous mutations in RPE65. ( 21211845 )
2011
14
Spectral-domain optical coherence tomography and fundus autofluorescence characteristics in patients with fundus albipunctatus and retinitis punctata albescens. ( 20450307 )
2010
15
Treatment of a retinal dystrophy, fundus albipunctatus, with oral 9-cis-{beta}-carotene. ( 19955196 )
2010
16
Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5. ( 20829743 )
2010
17
Diagnosis in a patient with fundus albipunctatus and atypical fundus changes. ( 18949499 )
2009
18
High-definition optical coherence tomographic visualization of photoreceptor layer and retinal flecks in fundus albipunctatus associated with cone dystrophy. ( 19433727 )
2009
19
Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa. ( 18363170 )
2008
20
Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene. ( 17476461 )
2007
21
Fundus albipunctatus in a patient with achondroplasia. ( 17913175 )
2007
22
[Fundus albipunctatus incidentally discovered in a black African man]. ( 16885819 )
2006
23
Improvement in rod and cone function in mouse model of Fundus albipunctatus after pharmacologic treatment with 9-cis-retinal. ( 17003450 )
2006
24
Disappearance of puncta after uveitis in an eye with fundus albipunctatus. ( 16340543 )
2005
25
Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study. ( 15790919 )
2005
26
A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa. ( 15007239 )
2004
27
Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy. ( 15302662 )
2004
28
Long-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene. ( 12860821 )
2003
29
Macular dystrophy in a Japanese family with fundus albipunctatus. ( 12788147 )
2003
30
A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots. ( 12967826 )
2003
31
RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus. ( 12906118 )
2003
32
Macular dystrophy in a 9-year-old boy with fundus albipunctatus. ( 11812441 )
2002
33
Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. ( 11470705 )
2001
34
Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus. ( 11675386 )
2001
35
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. ( 11453974 )
2001
36
A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy. ( 11448328 )
2001
37
Characterization of a dehydrogenase activity responsible for oxidation of 11-cis-retinol in the retinal pigment epithelium of mice with a disrupted RDH5 gene. A model for the human hereditary disease fundus albipunctatus. ( 11418621 )
2001
38
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. ( 11053295 )
2000
39
Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus. ( 11053296 )
2000
40
Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. ( 11078833 )
2000
41
A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus. ( 10845614 )
2000
42
A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. ( 11078852 )
2000
43
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. ( 10617778 )
1999
44
Fundus albipunctatus and other flecked retina syndromes. ( 10547972 )
1999
45
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. ( 10369264 )
1999
46
Fundus albipunctatus-like lesions in juvenile retinoschisis. ( 7918299 )
1994
47
Fundus albipunctatus associated with cone dystrophy. ( 1622952 )
1992
48
Independent segregation of fundus albipunctatus and the transthyretin (prealbumin) gene. ( 1687707 )
1991
49
Long-term follow-up of the physiologic abnormalities and fundus changes in fundus albipunctatus. ( 2336278 )
1990
50
Variable expressivity in fundus albipunctatus. ( 3500444 )
1987

Variations for Fundus Albipunctatus

UniProtKB/Swiss-Prot genetic disease variations for Fundus Albipunctatus:

66 (show all 18)
id Symbol AA change Variation ID SNP ID
1 RDH5 p.Ser73Phe VAR_009273 rs62638185
2 RDH5 p.Gly238Trp VAR_009274 rs62638191
3 RDH5 p.Gly35Ser VAR_016814 rs759359491
4 RDH5 p.Gly107Arg VAR_016815
5 RDH5 p.Val132Met VAR_016816 rs62638187
6 RDH5 p.Val164Phe VAR_016817
7 RDH5 p.Val177Gly VAR_016818 rs104894373
8 RDH5 p.Cys267Trp VAR_016819
9 RDH5 p.Arg280His VAR_016820 rs62638193
10 RDH5 p.Tyr281His VAR_016821 rs62638194
11 RDH5 p.Ala294Pro VAR_016822 rs111033593
12 RDH5 p.Leu105Ile VAR_068716
13 RDH5 p.Asp128Asn VAR_068717 rs377029071
14 RDH5 p.Arg157Trp VAR_068718 rs104894374
15 RDH5 p.Val264Gly VAR_068719
16 RDH5 p.Tyr175Phe VAR_075309 rs758411232
17 RLBP1 p.Arg151Gln VAR_005140 rs28933989
18 RLBP1 p.Met226Lys VAR_037317 rs137853291

ClinVar genetic disease variations for Fundus Albipunctatus:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RHO NM_000539.3(RHO): c.403C> T (p.Arg135Trp) single nucleotide variant Pathogenic rs104893775 GRCh37 Chromosome 3, 129249760: 129249760
2 RLBP1 NM_000326.4(RLBP1): c.452G> A (p.Arg151Gln) single nucleotide variant Pathogenic rs137853290 GRCh37 Chromosome 15, 89758364: 89758364
3 RLBP1 RLBP1, 324G-A single nucleotide variant Pathogenic
4 RLBP1 NM_000326.4(RLBP1): c.700C> T (p.Arg234Trp) single nucleotide variant Pathogenic rs28933990 GRCh37 Chromosome 15, 89754025: 89754025
5 RLBP1 NM_000326.4(RLBP1): c.677T> A (p.Met226Lys) single nucleotide variant Pathogenic rs137853291 GRCh37 Chromosome 15, 89754981: 89754981
6 RDH5 NM_002905.3(RDH5): c.285G> A (p.Trp95Ter) single nucleotide variant Pathogenic rs774122562 GRCh38 Chromosome 12, 55721469: 55721469
7 RDH5 NM_002905.3(RDH5): c.814_815delCT (p.Leu272Aspfs) deletion Pathogenic rs765714290 GRCh37 Chromosome 12, 56118186: 56118187

Expression for Fundus Albipunctatus

Search GEO for disease gene expression data for Fundus Albipunctatus.

Pathways for Fundus Albipunctatus

GO Terms for Fundus Albipunctatus

Cellular components related to Fundus Albipunctatus according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell body GO:0044297 9.43 RDH5 RLBP1 RPE65
2 photoreceptor inner segment GO:0001917 9.33 GNAT1 RHO SAG
3 photoreceptor outer segment membrane GO:0042622 9.32 GNAT1 RHO
4 photoreceptor disc membrane GO:0097381 9.26 GNAT1 GRK1 PDE6B RHO
5 photoreceptor outer segment GO:0001750 9.02 CACNA1F GNAT1 PRPH2 RHO SAG

Biological processes related to Fundus Albipunctatus according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.81 CACNA1F GNAT1 GRK1 PDE6B RDH5 RHO
2 retina development in camera-type eye GO:0060041 9.77 GNAT1 PDE6B PRPH2 RHO RPE65
3 retinoid metabolic process GO:0001523 9.72 RBP3 RDH5 RHO RLBP1 RPE65
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.65 GNAT1 GRK1 PDE6B RHO SAG
5 response to light stimulus GO:0009416 9.63 GNAT1 RHO RPE65
6 detection of light stimulus involved in visual perception GO:0050908 9.61 CACNA1F GNAT1 RPE65
7 phototransduction, visible light GO:0007603 9.58 GNAT1 PDE6B RHO
8 retinol metabolic process GO:0042572 9.54 RDH5 RPE65
9 phototransduction GO:0007602 9.52 GNAT1 RHO
10 cellular response to electrical stimulus GO:0071257 9.51 GNAT1 RPE65
11 vitamin A metabolic process GO:0006776 9.49 RLBP1 RPE65
12 detection of light stimulus GO:0009583 9.48 PDE6B RHO
13 visual perception GO:0007601 9.36 CACNA1F GNAT1 GRK1 PDE6B PRPH2 RBP3
14 rhodopsin mediated signaling pathway GO:0016056 9.35 GNAT1 GRK1 PDE6B RHO SAG

Molecular functions related to Fundus Albipunctatus according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 retinol binding GO:0019841 8.96 RBP3 RLBP1
2 retinal binding GO:0016918 8.62 RBP3 RLBP1

Sources for Fundus Albipunctatus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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