MCID: FND001
MIFTS: 54

Fundus Albipunctatus

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Fundus Albipunctatus

MalaCards integrated aliases for Fundus Albipunctatus:

Name: Fundus Albipunctatus 53 12 24 55 71 13 41 14 69
Retinitis Punctata Albescens 53 12 55 71 28 69
Pigmentary Retinal Dystrophy 12 24 28
Albipunctate Retinal Dystrophy 24
Lauber's Disease 24
Falbi 71
Rpa 71
Fa 71

Characteristics:

Orphanet epidemiological data:

55
fundus albipunctatus
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood;
retinitis punctata albescens
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal dominant
autosomal recessive


HPO:

31

Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 136880
Disease Ontology 12 DOID:11105
ICD10 32 H35.52
ICD9CM 34 362.74
SNOMED-CT 64 68222009
UMLS via Orphanet 70 C0311338 C1405854
ICD10 via Orphanet 33 H35.5

Summaries for Fundus Albipunctatus

UniProtKB/Swiss-Prot : 71 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 retinitis and retinoschisis 1, x-linked, juvenile, 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 B-Carotene and Antioxidants 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

OMIM : 53 This form of fleck retina disease (see 228980) is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. Night blindness occurs. Both autosomal dominant and autosomal recessive inheritance had been suggested (Krill and Folk, 1962; Krill, 1977). (136880)

Genetics Home Reference : 24 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.

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.

Related Diseases for Fundus Albipunctatus

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

(show top 50) (show all 153)
# Related Disease Score Top Affiliating Genes
1 retinitis 30.3 PRPH2 RHO RLBP1 RPE65
2 retinoschisis 1, x-linked, juvenile 29.9 CACNA1F RPE65
3 night blindness 28.3 CACNA1F GNAT1 GRK1 PDE6B RDH5 RHO
4 retinitis pigmentosa 26.0 CACNA1F GNAT1 GRK1 PDE6B PRPH2 RBP3
5 fanconi anemia, complementation group a 12.0
6 autoimmune lymphoproliferative syndrome 11.7
7 fetal alcohol syndrome 11.7
8 friedreich ataxia 1 11.5
9 bothnia retinal dystrophy 11.4
10 fetal alcohol spectrum disorder 11.3
11 fanconi anemia, complementation group d2 11.2
12 fanconi anemia, complementation group g 11.2
13 fanconi anemia, complementation group l 11.2
14 newfoundland rod-cone dystrophy 11.2
15 ghose sachdev kumar syndrome 11.1
16 retinal dystrophy, reticular pigmentary, of posterior pole 11.0
17 fanconi anemia, complementation group b 10.9
18 fanconi anemia, complementation group f 10.9
19 fanconi anemia, complementation group d1 10.9
20 fanconi anemia, complementation group i 10.9
21 fanconi anemia, complementation group j 10.9
22 fanconi anemia, complementation group n 10.9
23 fanconi anemia, complementation group o 10.9
24 dianzani autoimmune lymphoproliferative disease 10.9
25 otodental dysplasia 10.8
26 fanconi anemia, complementation group c 10.8
27 fanconi anemia, complementation group e 10.8
28 caspase 8 deficiency 10.8
29 fanconi anemia, complementation group p 10.8
30 fanconi anemia, complementation group q 10.8
31 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.4
32 colorectal adenoma 10.4
33 stargardt macular degeneration 10.4 PRPH2 RHO
34 lymphoma 10.3
35 leukemia 10.3
36 cone dystrophy 10.3
37 hepatitis 10.3
38 retinitis pigmentosa 1 10.3 PRPH2 RHO
39 retinitis pigmentosa 7 10.3 PRPH2 RHO
40 thyroiditis 10.2
41 prostatitis 10.2
42 squamous cell carcinoma 10.2
43 endotheliitis 10.2
44 melanoma 10.2
45 lymphoproliferative syndrome 10.2
46 usher syndrome, type iid 10.2 GRK1 RHO
47 retinitis pigmentosa 43 10.2 PDE6B RHO
48 acute zonal occult outer retinopathy 10.2 RLBP1 SAG
49 glioma 10.2
50 red-green color blindness 10.2 RHO RPE65

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



Diseases related to Fundus Albipunctatus

Symptoms & Phenotypes for Fundus Albipunctatus

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
fleck retina disease
discrete uniform white dots over entire fundus
cone dysfunction seen on erg (in some patients)
macular involvement (in some patients)
absent rod responses seen on erg (in some patients)
more

Clinical features from OMIM:

136880

Human phenotypes related to Fundus Albipunctatus:

31
# Description HPO Frequency HPO Source Accession
1 nyctalopia 31 HP:0000662
2 retinal flecks 31 HP:0012045
3 fundus albipunctatus 31 HP:0030642

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

25
# 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.85 RBP3 RHO RLBP1 RPE65 SAG CACNA1F
2 pigmentation MP:0001186 9.43 RHO RLBP1 RPE65 GNAT1 PDE6B PRPH2
3 vision/eye MP:0005391 9.36 RDH5 RHO RLBP1 RPE65 SAG CACNA1F

Drugs & Therapeutics for Fundus Albipunctatus

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
B-Carotene Approved, Nutraceutical Phase 2, Phase 3 7235-40-7 5280489
2 Antioxidants Phase 2, Phase 3
3 Carotenoids Phase 2, Phase 3
4 Micronutrients Phase 2, Phase 3
5 Protective Agents Phase 2, Phase 3
6 Trace Elements Phase 2, Phase 3
7 Vitamins Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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:

# Genetic test Affiliating Genes
1 Retinitis Punctata Albescens 28
2 Pigmentary Retinal Dystrophy 28 PRPH2 RDH5 RHO RLBP1

Anatomical Context for Fundus Albipunctatus

MalaCards organs/tissues related to Fundus Albipunctatus:

38
Retina, Eye

Publications for Fundus Albipunctatus

Articles related to Fundus Albipunctatus:

(show top 50) (show all 56)
# 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
RDH5 RETINOPATHY (FUNDUS ALBIPUNCTATUS) WITH PRESERVED ROD FUNCTION IN YOUNG CHINESE PATIENT. ( 25170858 )
2014
6
Fluorescence adaptive optics scanning laser ophthalmoscope for detection of reduced cones and hypoautofluorescent spots in fundus albipunctatus. ( 24922193 )
2014
7
Cone Abnormalities in Fundus Albipunctatus Associated With RDH5 Mutations Assessed Using Adaptive Optics Scanning Laser Ophthalmoscopy. ( 24246574 )
2013
8
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families. ( 22736946 )
2012
9
Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients. ( 22815624 )
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
Fundus albipunctatus associated with compound heterozygous mutations in RPE65. ( 21211845 )
2011
12
Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families. ( 21447491 )
2011
13
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus). ( 21529959 )
2011
14
Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5. ( 20829743 )
2010
15
Treatment of a retinal dystrophy, fundus albipunctatus, with oral 9-cis-{beta}-carotene. ( 19955196 )
2010
16
Spectral-domain optical coherence tomography and fundus autofluorescence characteristics in patients with fundus albipunctatus and retinitis punctata albescens. ( 20450307 )
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 patient with achondroplasia. ( 17913175 )
2007
21
Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene. ( 17476461 )
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
Macular dystrophy in a Japanese family with fundus albipunctatus. ( 12788147 )
2003
29
RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus. ( 12906118 )
2003
30
A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots. ( 12967826 )
2003
31
Long-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene. ( 12860821 )
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
A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy. ( 11448328 )
2001
36
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. ( 11453974 )
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 frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus. ( 10845614 )
2000
39
A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. ( 11078852 )
2000
40
Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. ( 11078833 )
2000
41
Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus. ( 11053296 )
2000
42
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. ( 11053295 )
2000
43
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. ( 10369264 )
1999
44
Fundus albipunctatus and other flecked retina syndromes. ( 10547972 )
1999
45
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. ( 10617778 )
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:

71 (show all 18)
# 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 rs765993603
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 rs137853290
18 RLBP1 p.Met226Lys VAR_037317 rs137853291

ClinVar genetic disease variations for Fundus Albipunctatus:

6
# 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/Likely 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:

# 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)
# 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:

# Name GO ID Score Top Affiliating Genes
1 retinol binding GO:0019841 9.16 RBP3 RLBP1
2 retinal binding GO:0016918 8.96 RBP3 RLBP1
3 11-cis retinal binding GO:0005502 8.62 RHO RLBP1

Sources for Fundus Albipunctatus

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