Unlocking the Mysteries of Autosomal Recessive Exudative Vitreoretinopathy 4
Inheriting two altered copies of LRP5 causes this recessive form of EVR4, which can be mistaken for retinopathy of prematurity and may involve short stature.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, National Society of Genetic Counselors (NSGC)
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.
Articles by Brandon
Decoding the Mysteries of Digenic Exudative Vitreoretinopathy 4: A Comprehensive Guide
Leaking retinal vessels and detachment follow when two genes, among them CTNNB1, TSPAN12 and FZD4, are both affected; imaging and DNA testing are described.
Factor V Hong Kong: A Rare Clotting Gene Variant
Blood clots form more readily with this rare mutation, which has been associated with deep vein thrombosis, pulmonary embolism and recurrent miscarriage.
Decoding the Mystery of Focal Segmental Glomerulosclerosis 3: Genetic Testing for Better Diagnosis and Treatment
Scarring of the glomeruli in FSGS3 reduces filtering and can end in kidney failure; one pediatric cohort found mutations in 43.6% of cases, guiding treatment choices.
Decoding Foveal Hypoplasia 1 with Cataract: Understanding, Diagnosing, and Utilizing Genetic Testing
Optical coherence tomography can reveal an underdeveloped fovea even at good acuity; paired with PAX6 analysis it clarifies this cataract-associated disorder.
Decoding Foveal Hypoplasia 1: Understanding, Diagnosing, and Utilizing Genetic Testing
Explore Foveal Hypoplasia 1, its associated anomalies, and the crucial role of genetic testing in diagnosing and managing this rare genetic disorder.
Understanding Foveal Hypoplasia 2 and Optic Nerve Misrouting with or without Anterior Segment Dysgenesis
Most often linked to SLC38A8 mutations, foveal hypoplasia 2 disrupts fovea development; related optic nerve misrouting can cause strabismus and nystagmus.
Fumarylacetoacetase Pseudodeficiency: A Milder Form
Milder loss of the FAH enzyme can mimic hereditary tyrosinemia type I or metachromatic leukodystrophy, and genetic testing is what marks the pseudodeficiency.