KEGG   DISEASE: Familial flecked retina syndrome
Entry
H00825                      Disease                                

Name
Familial flecked retina syndrome
  Subgroup
Doyne honeycomb degeneration of retina [DS:H02110]
Basal laminar drusen [DS:H02108]
Fundus albipunctatus
Retinitis punctata albescens
Bietti crystalline corneoretinal dystrophy [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 secundary retinal flecks due to metabolic disorders.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H00825  Familial flecked retina syndrome
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]
(RPA) RLBP1 [HSA:6017] [KO:K19625]
(RPA) RHO [HSA:6010] [KO:K04250]
(BCD) CYP4V2 [HSA:285440] [KO:K07427]
Other DBs
ICD-11: 9B70
ICD-10: H35.5
OMIM: 126600 126700 136880 210370
Reference
  Authors
Walia S, Fishman GA, Kapur R
  Title
Flecked-retina syndromes.
  Journal
Ophthalmic Genet 30:69-75 (2009)
DOI:10.1080/13816810802654516
Reference
  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:7952338
  Authors
De Laey JJ
  Title
Flecked retina disorders.
  Journal
Bull Soc Belge Ophtalmol 249:11-22 (1993)
Reference
  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

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