KEGG   DISEASE: Basal laminar drusen
Entry
H02108                      Disease                                
Name
Basal laminar drusen
  Supergrp
Familial flecked retina syndrome [DS:H00825]
Description
Basal laminar drusen (BLD, also termed cuticular drusen or early adult onset grouped drusen) is an early-onset-drusen phenotype that shows a pattern of uniform small (25 to 75 micrometer), slightly raised, yellow subretinal nodules randomly scattered in the macula. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. It has been reported that a variant in CFH gene is strongly associated with this disease.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H02108  Basal laminar drusen
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
     H02108  Basal laminar drusen
Related
pathway
hsa04610  Complement and coagulation cascades
Gene
CFH [HSA:3075] [KO:K04004]
Other DBs
ICD-11: 9B70
ICD-10: H35.5
MeSH: C563034
OMIM: 126700
Reference
PMID:3985082
  Authors
Gass JD, Jallow S, Davis B
  Title
Adult vitelliform macular detachment occurring in patients with basal laminar drusen.
  Journal
Am J Ophthalmol 99:445-59 (1985)
DOI:10.1016/0002-9394(85)90012-1
Reference
  Authors
Boon CJ, Klevering BJ, Hoyng CB, Zonneveld-Vrieling MN, Nabuurs SB, Blokland E, Cremers FP, den Hollander AI
  Title
Basal laminar drusen caused by compound heterozygous variants in the CFH gene.
  Journal
Am J Hum Genet 82:516-23 (2008)
DOI:10.1016/j.ajhg.2007.11.007
Reference
  Authors
Meyerle CB, Smith RT, Barbazetto IA, Yannuzzi LA
  Title
Autofluorescence of basal laminar drusen.
  Journal
Retina 27:1101-6 (2007)
DOI:10.1097/IAE.0b013e3181451617
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