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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… 
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.
Highly Cited
2013
Highly Cited
2013
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… 
2012
2012
MYH9-related Disorders: Report on a Patient of Greek Origin Presenting With Macroscopic Hematuria and Presenile Cataract, Caused by an R1165C Mutation
Myosin heavy chain-9 (MYH9)-related disorders represent a heterogenous group of hereditary diseases caused by mutations in the… 
Highly Cited
2010
Highly Cited
2010
MYH-9 Related Platelet Disorders: Strategies for Management and Diagnosis
MYH-9 related platelet disorders belong to the group of inherited giant platelet disorders. The MYH-9 gene encodes the non… 
2009
2009
Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene.
2003
2003
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… 
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… 
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… 
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… 
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… 
1981
1981
Increased incidence of cataracts in male subjects deficient in glucose-6-phosphate dehydrogenase.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency in RBCs was found significantly more frequently in 210 male cataractous… 
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