Basal Laminar Drusen

Clinical Features

Phenotypes and symptoms related to Basal Laminar Drusen

  • Visual loss
  • Retinal degeneration
  • Progressive visual loss
  • Macular degeneration
  • Macular dystrophy
  • Drusen
  • Posterior uveitis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Basal Laminar Drusen Is also known as drusen of bruch membrane, drusen, cuticular, drusen, early adult-onset, grouped.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Basal Laminar Drusen Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Test for CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

CFH
Specificity
100 %
Genes
100 %
Test for CFH-Related Atypical Hemolytic-Uremic Syndrome.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

CFH
Specificity
100 %
Genes
100 %
AHUS/MPGN panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

CFB, THBD, C3, APLN, CFHR5, CFH, CFI, CD46
Specificity
13 %
Genes
100 %
Genetic Renal Panel.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

CFB, THBD, C3, ADAMTS13, CFHR3, MMACHC, CFHR5, DGKE, CFH, CFHR1, CFI, CD46, PLG
Specificity
8 %
Genes
100 %
Atypical Hemolytic Uremic Syndrome (aHUS) Genetic Susceptibility Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

CFB, THBD, C3, CFHR3, CFHR5, DGKE, CFH, CFHR1, CFI, CD46
Specificity
10 %
Genes
100 %
CFH Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

CFH
Specificity
100 %
Genes
100 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

CFB, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, RUNX1T1, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Thrombocytopenia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

CFB, RUNX1, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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