Clumped Pigment Retinal Degeneration: MERTK and Testing
Clumped pigment deposits form as photoreceptors degenerate in this autosomal recessive disorder; OCT and fundus imaging plus MERTK findings shape gene therapy work.
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
Unlocking the Mysteries of Retinitis Pigmentosa 4: Understanding, Diagnosing, and Using Genetic Testing
Inheriting a mutated copy from each parent causes this form of RP, with reported links to IMPG1 variants, a CYP4V2 variant and RP1-related recessive disease.
Decoding the Darkness: Understanding Retinitis Pigmentosa 61
Overexpression of the MERTK gene has been linked to RP61 in Swedish Vallhund dogs. ERG and visual field tests assess vision; DNA testing shows inheritance.
Retinitis Punctata Albescens: RLBP1 Testing and Diagnosis
White or yellow flecks across the retina, night blindness and reduced peripheral vision define the disorder; RLBP1 findings separate it from fundus albipunctatus.
Decoding the Enigma of Rheumatoid Arthritis: Progression, Diagnosis, and Genetic Testing
Discover the role of genetic testing in diagnosing and managing Rheumatoid Arthritis. Learn about disease progression, personalized treatment, and future research.
Demystifying Sacral Defect with Anterior Meningocele: Diagnosis and Genetic Testing
Pressure from a fluid-filled sac in front of the sacrum can cause urinary and gastrointestinal symptoms. MRI, CT and the reported link with Marfan syndrome are explained.
Unlocking the Mysteries of Scapuloperoneal Weakness: A Comprehensive Guide to Genetic Testing
Muscle weakness around the shoulder blades and lower legs can be hard to pin down clinically. Genetic testing has linked cases to FHL1 and recessive PIEZO2 mutations.
Schizophrenia 15: Diagnosis and What Genetic Testing Adds
Described as a schizophrenia subtype tied to a mutation on chromosome 15, it is diagnosed through psychiatric evaluation, medical history and genetic testing.