Learn About Lenz Microphthalmia Syndrome

What is the definition of Lenz Microphthalmia Syndrome?

Lenz microphthalmia syndrome is a condition characterized by abnormal development of the eyes and several other parts of the body. It occurs almost exclusively in males.

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What are the causes of Lenz Microphthalmia Syndrome?

Mutations in at least two genes on the X chromosome are thought to be responsible for Lenz microphthalmia syndrome. Only one of these genes, BCOR, has been identified.

How prevalent is Lenz Microphthalmia Syndrome?

Lenz microphthalmia syndrome is a very rare condition; its incidence is unknown. It has been identified in only a few families worldwide.

Is Lenz Microphthalmia Syndrome an inherited disorder?

This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Who are the top Lenz Microphthalmia Syndrome Local Doctors?
Distinguished
Highly rated in
27
conditions

University Of Manchester

Genomics England, The William Harvey Research Institute, Ucl Genetics Institute, Gosgene, Genetics And Genomic Medicine Programme, National Institute For Health Research Great Ormond Street Hospital Biomedical Research Centre, Infection, Immunity And Inflammation Research And Teaching Department, Stem Cells And Regenerative Medicine, And Mitochondrial Research Group, Ucl Ear Institute, The Department Of Renal Medicine, The Metabolic Unit, Institute Of Cancer Research, Midwifery And Palliative Care, Division Of Genetics And Molecular Medicine, Nihr Brc At Moorfields Eye Hospital, Hammersmith Hospital, London, Open Targets And European Molecular Biology Laboratory European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, The Division Of Evolution And Genomic Sciences, Faculty Of Biology, St. Mary's Hospital, Manchester, The Department Of Genetic And Genomic Medicine, Cardiff University, The Medical Research Council Mitochondrial Biology Unit, The School Of Clinical Medicine, The Department Of Medicine, Nihr Bioresource, Cambridge University Hospitals, And Addenbrooke's Hospital, Congenica, Illumina Cambridge, Nhs Blood And Transplant And Wellcome Sanger Institute, Nihr Oxford Brc, The Oxford Centre For Genomic Medicine, Oxford Genetics Laboratories, Churchill Hospital, The Mrc Weatherall Institute Of Molecular Medicine And The Oxford Epilepsy Research Group, John Radcliffe Hospital, Oxford, Peninsula Clinical Genetics Service, Royal Devon And Exeter Hospital, Exeter, Newcastle Eye Centre, Royal Victoria Infirmary, The Institute Of Genetic Medicine, Newcastle University, Wellcome Centre For Mitochondrial Research, Translational And Clinical Research Institute, Faculty Of Medical Sciences, Newcastle University, Highly Specialised Mitochondrial Service And Northern Genetics Service, Newcastle Upon Tyne, The Institute Of Cancer And Genomic Sciences, Institute Of Biomedical Research, Birmingham, The Genomic Informatics Group, Liverpool, The School Of Cellular And Molecular Medicine, Bristol And Yorkshire And Humber, Sheffield Children's Hospital 
Sheffield, ENG, GB 

Graeme Black is in Sheffield, United Kingdom. Black is rated as a Distinguished expert by MediFind in the treatment of Lenz Microphthalmia Syndrome. He is also highly rated in 27 other conditions, according to our data. His top areas of expertise are Brittle Cornea Syndrome, Senior-Loken Syndrome, Late-Onset Retinal Degeneration, and 3M Syndrome.

Distinguished
Highly rated in
27
conditions

Aichi Developmental Disability Center Central Hospital

Okazaki, JP 

Seiji Mizuno is in Okazaki, Japan. Mizuno is rated as a Distinguished expert by MediFind in the treatment of Lenz Microphthalmia Syndrome. He is also highly rated in 27 other conditions, according to our data. His top areas of expertise are Coffin-Siris Syndrome, Lenz Microphthalmia Syndrome, Kabuki Syndrome, and Miller Syndrome.

 
 
 
 
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Distinguished
Highly rated in
34
conditions

University Of Edinburgh

Stirling, SCT, GB FK94L

David Fitzpatrick is in Stirling, United Kingdom. Fitzpatrick is rated as a Distinguished expert by MediFind in the treatment of Lenz Microphthalmia Syndrome. He is also highly rated in 34 other conditions, according to our data. His top areas of expertise are Gillespie Syndrome, Microphthalmia, Anophthalmia Plus Syndrome, and Lenz Microphthalmia Syndrome.

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Published Date:updated Last, May

Published By: National Institutes of Health

What are the Latest Advances for Lenz Microphthalmia Syndrome?

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