Details of Disease

General Information of Disease (ID: DISNICY6)

Disease Name Fundus albipunctatus
Synonyms retinitis punctata albescens; pigmentary retinal dystrophy; fundus albipunctatus
Definition
Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.
Disease Hierarchy
DIST8UDW: Familial flecked retinopathy
DIS5F8BY: RLBP1-related retinopathy
DISWZQ2C: RDH5-related retinopathy
DISNICY6: Fundus albipunctatus
Disease Identifiers
MONDO ID
MONDO_0007639
MESH ID
C562733
UMLS CUI
C0311338
OMIM ID
136880
MedGen ID
86317
HPO ID
HP:0030642
Orphanet ID
227796
SNOMED CT ID
764939004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RHO TTH0KSX Limited Unknown [1]
RHO TTH0KSX Limited Genetic Variation [1]
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This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
RDH5 DESI4OK Limited Genetic Variation [2]
RDH5 DESI4OK Definitive Semidominant [3]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RHO OT33SU2R Limited Unknown [1]
MFRP OTHY9ZA5 Strong Biomarker [4]
PRPH2 OTNH2G5H Strong Autosomal dominant [5]
RDH12 OTELFRRJ Strong Genetic Variation [6]
RLBP1 OTCY4D6B Strong Autosomal recessive [7]
RDH5 OTYBZHCC Definitive Semidominant [3]
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⏷ Show the Full List of 6 DOT(s)

References

1 Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. Am J Ophthalmol. 1996 Jan;121(1):19-25. doi: 10.1016/s0002-9394(14)70530-6.
2 Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2218-2238. doi: 10.1167/iovs.17-21424.
3 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
4 Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens.Invest Ophthalmol Vis Sci. 2000 Sep;41(10):3149-57.
5 A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nat Genet. 1993 Mar;3(3):208-12. doi: 10.1038/ng0393-208.
6 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.Nat Genet. 2004 Aug;36(8):850-4. doi: 10.1038/ng1394. Epub 2004 Jul 18.
7 Visual cycle impairment in cellular retinaldehyde binding protein (CRALBP) knockout mice results in delayed dark adaptation. Neuron. 2001 Mar;29(3):739-48. doi: 10.1016/s0896-6273(01)00248-3.