Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Achromatic retinal patches

MedGen UID:
348171
Concept ID:
C1860710
Finding
 
HPO: HP:0009727

Conditions with this feature

Tuberous sclerosis syndrome
MedGen UID:
22518
Concept ID:
C0041341
Neoplastic Process
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, facial angiofibromas, shagreen patches, fibrous facial plaques, ungual fibromas); brain (cortical tubers, subependymal nodules [SENs] and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability/developmental delay); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM]). CNS tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Fibrous skin tumor of tuberous sclerosis
MedGen UID:
75563
Concept ID:
C0265319
Neoplastic Process
Facial ANGIOFIBROMA in tuberous sclerosis
Tuberous sclerosis 1
MedGen UID:
344288
Concept ID:
C1854465
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, facial angiofibromas, shagreen patches, fibrous facial plaques, ungual fibromas); brain (cortical tubers, subependymal nodules [SENs] and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability/developmental delay); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM]). CNS tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Tuberous sclerosis 2
MedGen UID:
348170
Concept ID:
C1860707
Disease or Syndrome
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. These changes can result in epilepsy, learning difficulties, behavioral problems, and renal failure, among other complications (reviews by Crino et al., 2006 and Curatolo et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of tuberous sclerosis, see tuberous sclerosis-1 (191100), caused by mutation in the TSC1 gene (605284) on chromosome 9q34. Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).
Tsc2 angiomyolipomas, renal, modifier of
MedGen UID:
442482
Concept ID:
C2750460
Disease or Syndrome

Recent clinical studies

Diagnosis

Xiao B, Wade AR
J Vis 2010 Nov 1;10(13):10. doi: 10.1167/10.13.10. PMID: 21149312

Clinical prediction guides

Elliott SL, Cao D
J Vis 2013 Nov 14;13(13):15. doi: 10.1167/13.13.15. PMID: 24233245Free PMC Article
Watanabe A, Pokorny J, Smith VC
Vision Res 1998 Nov;38(21):3271-4. PMID: 9893837

Supplemental Content

Table of contents

    Consumer resources

    Medical Encyclopedia

    Outreach and support

    Clinical Trials

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...