Occult Macular Dystrophy: Unveiling the Genetic Mysteries Behind a Silent Threat
Cone cells fail and central vision declines while the retina still looks normal on examination, which makes OMD hard to spot. Gene testing can confirm a diagnosis.
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
Okt4 Epitope Deficiency: Immune Effects and DNA Testing
Missing or faulty epitopes on the Okt4 protein can weaken the immune response to pathogens; DNA analysis supports diagnosis and family planning.
Orofacial Cleft 10: Genetic Risk and Drug Safety
A gap in the lip or palate forms when facial tissue fails to fuse before birth; markers for orofacial cleft 10 may flag risk from medicines taken in pregnancy.
Osteogenesis Imperfecta Type 10: Understanding the Role of Genetic Testing
Faulty collagen leaves bones brittle in OI type 10, with fractures, deformities, short stature and possible hearing loss; testing separates it from other subtypes.
Osteogenesis Imperfecta Type 12: Unraveling the Genetic Tapestry of Brittle Bones
The SP7 gene, and the rs193922155 variant in particular, sits behind OI type 12; confirming it distinguishes the subtype and informs genetic counseling.
Pinpointing PLIN1-Related Familial Partial Lipodystrophy: A Genetic Testing Perspective
PLIN1 variants disturb how fat cells store lipid, causing loss of adipose tissue in the lower limbs along with insulin resistance and hypertriglyceridemia.
Porencephaly-Microcephaly-Bilateral Congenital Cataract Syndrome: Unraveling the Genetic Threads
Cysts in the brain, a small head size and clouded lenses in both eyes at birth mark this rare syndrome, and DNA analysis can identify the mutations involved.
Primary Ciliary Dyskinesia 14: Navigating Genetic Testing for a Rare Respiratory Disorder
Autosomal recessive inheritance and wide genetic variety make PCD14 hard to pin down; next-generation sequencing gives clearer answers than biopsy or nitric oxide tests.