Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

Presenile cataract

Known as: Cataract, presenile, Presenile cataracts 
Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual. [HPO:probinson, pmid:17030721… Expand
National Institutes of Health

Related topics

Related topics

2 relations
Diaphyseal medullary stenosis with malignant fibrous histiocytomaFOVEAL HYPOPLASIA 1

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation
Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM… Expand
  • figure 1
  • table 1
  • table 2
  • figure 2
  • table 3
Highly Cited
2010
Highly Cited
2010
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
MYH9-related disease ( MYH9-RD) is an autosomal dominant thrombocytopenia with giant platelets variably associated with young… Expand
  • figure 1
  • table 1
  • table 2
  • table 3
Highly Cited
2008
Highly Cited
2008
Position of nonmuscle myosin heavy chain IIA (NMMHC‐IIA) mutations predicts the natural history of MYH9‐related disease
MYH9‐related disease (MYH9‐RD) is a rare autosomal‐dominant disorder caused by mutations in MYH9, the gene for the heavy chain of… Expand
Highly Cited
2005
Highly Cited
2005
Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized.
BACKGROUND Cerebrotendinous xanthomatosis (CTX) is a rare but treatable neurodegenerative disorder caused by 27-sterol… Expand
  • figure 1
  • figure 2
  • figure 3
2004
2004
Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract
Summary: Impaired activity of the enzyme galactose-1-phosphate uridyltransferase (GALT) has been proposed as a risk factor for… Expand
Highly Cited
2002
Highly Cited
2002
A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.
In an inbred Iraqi Jewish family, we have studied three siblings with presenile cataract first noticed between the ages of 20 and… Expand
Highly Cited
1999
Highly Cited
1999
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
Galactokinase deficiency is an inborn error in the first step of galactose metabolism. Its major clinical manifestation is the… Expand
Highly Cited
1998
Highly Cited
1998
Incidence of cataract operations in Finnish male smokers unaffected by alpha tocopherol or beta carotene supplements.
OBJECTIVE: To examine the effect of alpha tocopherol and beta carotene supplementation on the incidence of age related cataract… Expand
1989
1989
Idiopathic presenile cataract formation and galactosaemia.
Five hundred patients undergoing cataract surgery were prospectively examined, and 46 Caucasian patients were found to have… Expand
1982
1982
Autosomal dominant foveal hypoplasia and presenile cataracts. A new syndrome.
An autosomal dominant syndrome of mild foveal hypoplasia (visual acuity, 20/50), congenital nystagmus, corneal pannus, and… Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE