Retinitis Pigmentosa 40: Diagnosis and Genetic Counseling
Rods and cones degenerate in RP40, bringing night blindness and peripheral vision loss; confirming the mutation separates it from other retinitis pigmentosa forms.
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
Revealing Retinitis Pigmentosa 44: The Role of Genetic Testing in Unraveling a Visionary Challenge
A novel rhodopsin mutation, Met-44-Thr, was reported in a simplex case of RP44, a disorder in which rod and cone photoreceptors deteriorate over time.
Retinitis Pigmentosa 45: Unlocking Genetic Insights for Better Management
Mutations 2299delG and C759F in the USH2A gene disrupt photoreceptor cells in RP45, bringing night blindness and tunnel vision that genetic testing can trace.
Revealing the Genetic Puzzle: Understanding Retinitis Pigmentosa 47
Both parents must carry the altered gene for a child to inherit RP47, so DNA analysis confirms the diagnosis and informs counseling and family planning.
Retinitis Pigmentosa 48: X-Linked Inheritance Explained
X-linked inheritance means RP48 mainly affects males, while female carriers may show mild symptoms. A DNA test names the mutation behind the vision loss.
Retinitis Pigmentosa 49 and Cystoid Macular Edema
Cystoid macular edema often compounds the photoreceptor loss seen in RP49. Next-generation sequencing identifies the variants involved and informs treatment.
Retinitis Pigmentosa 55 Symptoms and Mutation Detection
Rod cells fail first in RP55, causing night blindness, then cone cells go. Targeted sequencing with CNV analysis raises the mutation detection rate.
Revolutionizing Retinitis Pigmentosa 56: The Role of Genetic Testing
CRX helps maintain retinal photoreceptors, and a homozygous CRX deletion has been tied to a related eye disorder. Testing clarifies the cause of RP56.