KEGG   DISEASE: Familial flecked retina syndrome
Entry
H00825                      Disease                                
Name
Familial flecked retina syndrome
  Subgroup
Doyne honeycomb degeneration of retina (DHRD) [DS:H02110]
Basal laminar drusen (BLD) [DS:H02108]
Fundus albipunctatus (FA)
Retinitis punctata albescens (RPA)
Bietti crystalline corneoretinal dystrophy (BCD) [DS:H02107]
Description
The flecked retina syndrome is characterized by multiple deep, yellow to yellowish white fundus lesions of variable size and shape in eyes without vascular or optic nerve disease. Originally this group consisted of four diseases: fundus albipunctatus, fundus flavimaculatus, familial drusen and fleck retina of Kandori. Doyne honeycomb degeneration of retina (DHRD) and Basal laminar drusen (BLD) are included in familial drusen. However, there are far more diseases with fleck-like deposits in the retina, including primary hereditary ocular diseases such as retinitis punctata albescens (RPA) or Bietti's crystalline dystrophy (BCD), neuro-ophthalmologic syndromes such as Kjellin's syndrome, and secondary retinal flecks due to metabolic disorders.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the retina
    9B70  Inherited retinal dystrophies
     H00825  Familial flecked retina syndrome
Pathway
hsa00830  Retinol metabolism
hsa04744  Phototransduction
Gene
(DHRD) EFEMP1 [HSA:2202] [KO:K18262]
(BLD) CFH [HSA:3075] [KO:K04004]
(FA) RDH5 [HSA:5959] [KO:K00061]
(FA/RPA) RLBP1 [HSA:6017] [KO:K19625]
(RPA) PRPH2 [HSA:5961] [KO:K17343]
(RPA) RHO [HSA:6010] [KO:K04250]
(BCD) CYP4V2 [HSA:285440] [KO:K07427]
Other DBs
ICD-11: 9B70
MeSH: C562733
OMIM: 136880
Reference
PMID:19373677
  Authors
Walia S, Fishman GA, Kapur R
  Title
Flecked-retina syndromes.
  Journal
Ophthalmic Genet 30:69-75 (2009)
DOI:10.1080/13816810802654516
Reference
PMID:11913893
  Authors
Haimovici R, Wroblewski J, Piguet B, Fitzke FW, Holder GE, Arden GB, Bird AC
  Title
Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy).
  Journal
Eye (Lond) 16:7-15 (2002)
DOI:10.1038/sj.eye.6700018
Reference
PMID:14767656 (RDH5)
  Authors
Tsuchiya T, Kato M, Tomita N, Koide K, Hata N, Sato M, Hotta Y, Ueno M, Nakamura M, Miyake Y
  Title
A case of sectorial benign flecked retina.
  Journal
Jpn J Ophthalmol 48:72-4 (2004)
DOI:10.1007/s10384-003-0002-6
Reference
PMID:8485575 (PRPH2)
  Authors
Kajiwara K, Sandberg MA, Berson EL, Dryja TP
  Title
A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.
  Journal
Nat Genet 3:208-12 (1993)
DOI:10.1038/ng0393-208
Reference
PMID:10102299 (RLBP1)
  Authors
Morimura H, Berson EL, Dryja TP
  Title
Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.
  Journal
Invest Ophthalmol Vis Sci 40:1000-4 (1999)

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