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Multifocal pattern dystrophy simulating fundus flavimaculatus

MedGen UID:
1376850
•Concept ID:
C4509881
•
Disease or Syndrome
Synonyms: Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus; multifocal pattern dystrophy simulating fundus flavimaculatus; Multifocal pattern dystrophy simulating Stargardt disease; multifocal pattern dystrophy simulating Stargardt disease
SNOMED CT: Multifocal pattern dystrophy simulating Stargardt disease (723408004); Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus (723408004); Multifocal pattern dystrophy simulating fundus flavimaculatus (723408004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0020382
Orphanet: ORPHA99003

Definition

A patterned dystrophy of the retinal pigment epithelium with characteristics of multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease. Usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Multifocal pattern dystrophy simulating fundus flavimaculatus

Recent clinical studies

Etiology

Optical coherence tomography findings and choroidal neovascular membrane detectability with optical coherence tomography angiography in different subtypes of pattern dystrophy.
Uslu Doğan C, Akbaş Özyürek EB, Keleş Yeşiltaş S, Türker İÇ, Düzgün E, Güven D
Clin Exp Optom 2022 Sep;105(7):740-745. Epub 2021 Sep 19 doi: 10.1080/08164622.2021.1971046. PMID: 34538229

Diagnosis

Kjellin's syndrome: Spastic paraplegia and multifocal pattern dystrophy simulating fundus flavimaculatus.
Burgueño-Montañés C
Arch Soc Esp Oftalmol (Engl Ed) 2022 Dec;97(12):714-718. Epub 2022 Nov 4 doi: 10.1016/j.oftale.2022.08.007. PMID: 36343909
Optical coherence tomography findings and choroidal neovascular membrane detectability with optical coherence tomography angiography in different subtypes of pattern dystrophy.
Uslu Doğan C, Akbaş Özyürek EB, Keleş Yeşiltaş S, Türker İÇ, Düzgün E, Güven D
Clin Exp Optom 2022 Sep;105(7):740-745. Epub 2021 Sep 19 doi: 10.1080/08164622.2021.1971046. PMID: 34538229
Multimodal imaging in multifocal pattern dystrophy simulating fundus flavimaculatus.
Roy R, Kumar S, Chandrasekharan DP, Ghose A, Sharma P
Indian J Ophthalmol 2016 May;64(5):395-6. doi: 10.4103/0301-4738.185625. PMID: 27380982Free PMC Article

Clinical prediction guides

PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation.
Coco-Martin RM, Sanchez-Tocino HT, Desco C, Usategui-Martín R, Tellería JJ
Genes (Basel) 2020 Jul 9;11(7) doi: 10.3390/genes11070773. PMID: 32660024Free PMC Article

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