KEGG DISEASE: Basal laminar drusen

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 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
Pathway-based classification of diseases [BR:br08402]
Immune system
  nt06513  Complement cascade
   H02108  Basal laminar drusen

Pathway

Complement and coagulation cascades

Network

nt06513 Complement cascade

Gene

CFH [HSA:3075] [KO:K04004]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

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

LinkDB

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