The 20 Best Refsum Disease Doctors in The United States

Find the Top Refsum Disease Experts and Specialists

Last Updated: 09/26/2026

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MediFind found 118 doctor with experience in Refsum Disease near The United States. Of these, 77 are Experienced, 34 are Advanced, 6 are Distinguished and 1 are Elite.

Location
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118 providers found
    Elite in Refsum Disease
    Medical Genetics | Pediatrics
    Elite in Refsum Disease
    Medical Genetics | Pediatrics
    Referral may be required
    601 N Caroline St, 
    Baltimore, MD 
    Languages Spoken:
    English

    Nancy Braverman is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Baltimore, Maryland. Dr. Braverman is rated as an Elite provider by MediFind in the treatment of Refsum Disease. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Zellweger Syndrome, Acromesomelic Dysplasia, Achondrogenesis, and Acromesomelic Dysplasia Campailla Martinelli Type.

    Distinguished in Refsum Disease
    Rheumatology
    Distinguished in Refsum Disease
    Rheumatology
    Referral may be required

    AHN Rheumatology At Mellon Pavilion

    4815 Liberty Avenue, 
    Pittsburgh, PA 
    Languages Spoken:
    English, Hindi
    Accepting New Patients
    Offers Telehealth

    Tarun Sharma is a Rheumatologist practicing medicine in Pittsburgh, Pennsylvania. Dr. Sharma is rated as a Distinguished provider by MediFind in the treatment of Refsum Disease. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Blue Cone Monochromatism, Refsum Disease, Diabetic Macular Edema (DME), Vitrectomy, and Trabeculectomy. Dr. Sharma is board certified in American Board Of Internal Medicine - Rheumatology. Dr. Sharma is currently accepting new patients.

    Experienced in Refsum Disease
    Experienced in Refsum Disease
    Referral may be required

    Reading Hospital Neurology Suite 2200

    420 W Linfield Trappe Rd, Ste 2200, 
    Limerick, PA 
    Languages Spoken:
    English

    Marta Stella is a Neurologist practicing medicine in Limerick, Pennsylvania. Dr. Stella is rated as an Experienced provider by MediFind in the treatment of Refsum Disease. She is also highly rated in 24 other conditions, according to our data. Her clinical expertise encompasses Migraine with Brainstem Aura, Transient Ischemic Attack (TIA), Pseudobulbar Affect, and Migraine. Dr. Stella is board certified in  .

    Learn about our expert tiers
    Distinguished in Refsum Disease
    Distinguished in Refsum Disease
    Referral may be required

    Office

    527 Medical Park Dr Ste 107, 
    Bridgeport, WV 
    Languages Spoken:
    English
    Accepting New Patients

    Shiv Navada is a Neurologist practicing medicine in Bridgeport, West Virginia. Dr. Navada is rated as a Distinguished provider by MediFind in the treatment of Refsum Disease. He is also highly rated in 25 other conditions, according to our data. His clinical expertise encompasses Infantile Refsum Disease, Refsum Disease, Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome, and L1 Syndrome. Dr. Navada is currently accepting new patients.

    Distinguished in Refsum Disease
    Radiation Oncology
    Distinguished in Refsum Disease
    Radiation Oncology
    Referral may be required

    Libra Occupational Therapy PC

    5072 W Plano Pkwy Ste 220, 
    Plano, TX 
    Languages Spoken:
    English, Spanish
    Accepting New Patients
    Offers Telehealth

    Odette Campbell is a Radiation Oncologist practicing medicine in Plano, Texas. Dr. Campbell is rated as a Distinguished provider by MediFind in the treatment of Refsum Disease. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Infantile Refsum Disease, Refsum Disease, and Relapsing Multiple Sclerosis (RMS). Dr. Campbell is currently accepting new patients.

    Distinguished in Refsum Disease
    Distinguished in Refsum Disease
    Referral may be required

    Massachusetts Eye And Ear

    7301 E 2nd St Ste 300, 
    Scottsdale, AZ 
    Experience:
    17+ years
    Languages Spoken:
    English
    Accepting New Patients

    Rachel Huckfeldt is an Ophthalmologist practicing medicine in Scottsdale, Arizona. She has been practicing medicine for over 17 years. Dr. Huckfeldt is rated as a Distinguished provider by MediFind in the treatment of Refsum Disease. She is also highly rated in 28 other conditions, according to our data. Her clinical expertise encompasses Retinitis Pigmentosa, Usher Syndrome, Retinopathy Pigmentary Mental Retardation, Late-Onset Retinal Degeneration, and Vitrectomy. Dr. Huckfeldt is currently accepting new patients.

    Distinguished in Refsum Disease
    Ophthalmology
    Distinguished in Refsum Disease
    Ophthalmology
    Referral may be required

    Office

    3401 Civic Center Blvd, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Bart Leroy is an Ophthalmologist practicing medicine in Philadelphia, Pennsylvania. Dr. Leroy is rated as a Distinguished provider by MediFind in the treatment of Refsum Disease. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Leber Congenital Amaurosis, Retinopathy Pigmentary Mental Retardation, Late-Onset Retinal Degeneration, Vitrectomy, and Cataract Removal.

    Distinguished in Refsum Disease
    Medical Genetics
    Distinguished in Refsum Disease
    Medical Genetics
    Referral may be required

    USC Care Medical Group Inc

    1520 San Pablo St, 
    Los Angeles, CA 
    Languages Spoken:
    English

    Shoji Yano is a Medical Genetics provider practicing medicine in Los Angeles, California. Dr. Yano is rated as a Distinguished provider by MediFind in the treatment of Refsum Disease. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Infantile Refsum Disease, Methylmalonic Acidemia, and Maternal Hyperphenylalaninemia.

    Advanced in Refsum Disease
    Family Medicine
    Advanced in Refsum Disease
    Family Medicine

    WVU Medicine Braxton Community Health Center

    617 River St, 
    Gassaway, WV 
    Languages Spoken:
    English
    Accepting New Patients

    Darla Gant is a primary care provider, practicing in Family Medicine in Gassaway, West Virginia. Dr. Gant is rated as an Advanced provider by MediFind in the treatment of Refsum Disease. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Type 2 Diabetes (T2D), Refsum Disease, Infantile Refsum Disease, and Osteomyelitis in Children. Dr. Gant is currently accepting new patients.

    Experienced in Refsum Disease
    Otolaryngology | Plastic Surgery | Pediatric Otolaryngology
    Experienced in Refsum Disease
    Otolaryngology | Plastic Surgery | Pediatric Otolaryngology
    Referral may be required

    Proliance Surgeons

    Three Tree Medical Building, 16259 Sylvester Rd SW, Suite 504, 
    Burien, WA 
    Languages Spoken:
    English, Filipino, Khmer
    Accepting New Patients
    Offers Telehealth

    Peter Maurice is an Otolaryngologist and a Plastic Surgeon practicing medicine in Burien, Washington. Dr. Maurice is rated as an Experienced provider by MediFind in the treatment of Refsum Disease. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Chronic Rhinosinusitis with Nasal Polyps (CRSwNP), Nasal Septal Hematoma, Low Nasal Bridge, and Sinusitis. Dr. Maurice is board certified in American Board Of Facial Plastics And Reconstructive Surgery, American Board Of Otolaryngology, Facial & Plastic Reconstructive Surgery, and Otolaryngology. Dr. Maurice is currently accepting new patients.

    Advanced in Refsum Disease
    Internal Medicine
    Advanced in Refsum Disease
    Internal Medicine

    Prisma Health Internal Medicine Associates Of Greenville

    1025 Verdae Boulevard, 
    Greenville, SC 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Jai Hwang is a primary care provider, practicing in Internal Medicine in Greenville, South Carolina. Dr. Hwang is rated as an Advanced provider by MediFind in the treatment of Refsum Disease. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Infantile Refsum Disease, Refsum Disease, Infant Hyperglycemia, and High Cholesterol. Dr. Hwang is board certified in American Board Of Internal Medicine. Dr. Hwang is currently accepting new patients.

    Experienced in Refsum Disease
    Dermatology
    Experienced in Refsum Disease
    Dermatology
    Referral may be required

    San Francisco VA Medical Center

    4150 Clement St, 
    San Francisco, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Peter Elias is a Dermatologist practicing medicine in San Francisco, California. Dr. Elias is rated as an Experienced provider by MediFind in the treatment of Refsum Disease. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Ichthyosis Vulgaris, Atopic Dermatitis, Nonbullous Congenital Ichthyosiform Erythroderma, and Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limbs Defects. Dr. Elias is currently accepting new patients.

    Experienced in Refsum Disease
    Internal Medicine
    Experienced in Refsum Disease
    Internal Medicine

    Rajan Gulati Physician PC

    45 W Main St, 
    Cuba, NY 
    Languages Spoken:
    English
    Accepting New Patients

    Rajan Gulati is a primary care provider, practicing in Internal Medicine in Cuba, New York. Dr. Gulati is rated as an Experienced provider by MediFind in the treatment of Refsum Disease. He is also highly rated in 30 other conditions, according to our data. His clinical expertise encompasses Alzheimer's Disease, Sialic Acid Storage Disease, Phosphomannoisomerase Deficiency, PMM2-Congenital Disorder of Glycosylation, and Ureteroscopy. Dr. Gulati is currently accepting new patients.

    Advanced in Refsum Disease
    Podiatric Medicine
    Advanced in Refsum Disease
    Podiatric Medicine
    Referral may be required

    South Carolina Podiatric Physicians And Surgeons Group LLC

    3700 Sawtell Rd, 
    Little River, SC 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Richard Moore is a Podiatric Medicine provider practicing medicine in Little River, South Carolina. Dr. Moore is rated as an Advanced provider by MediFind in the treatment of Refsum Disease. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Tendinitis, Fibromatosis, Plantar Fasciitis, and Ledderhose Disease. Dr. Moore is currently accepting new patients.

    Advanced in Refsum Disease
    Podiatric Surgery
    Advanced in Refsum Disease
    Podiatric Surgery
    Referral may be required

    Coastal Podiatry Associates PA

    8141 Rourk St, 
    Myrtle Beach, SC 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    William Parker is a Podiatric Surgeon practicing medicine in Myrtle Beach, South Carolina. Dr. Parker is rated as an Advanced provider by MediFind in the treatment of Refsum Disease. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Plantar Fasciitis, Morton Neuroma, Tendinitis, and Refsum Disease. Dr. Parker is currently accepting new patients.

    Advanced in Refsum Disease
    Podiatric Medicine
    Advanced in Refsum Disease
    Podiatric Medicine
    Referral may be required

    Lehigh Regional Medical Center

    1500 Lee Blvd, 
    Lehigh Acres, FL 
    Languages Spoken:
    English
    Accepting New Patients

    Alec Dierksheide is a Podiatric Medicine provider practicing medicine in Lehigh Acres, Florida. Dr. Dierksheide is rated as an Advanced provider by MediFind in the treatment of Refsum Disease. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Infantile Refsum Disease, Refsum Disease, Tendinitis, Synovitis, and Tenotomy. Dr. Dierksheide is currently accepting new patients.

    Advanced in Refsum Disease
    Podiatric Medicine
    Advanced in Refsum Disease
    Podiatric Medicine
    Referral may be required

    Orange County Foot And Ankle Group Inc

    300 N Euclid St, 
    Fullerton, CA 
    Languages Spoken:
    English

    Daphne Yen-Douangmala is a Podiatric Medicine provider practicing medicine in Fullerton, California. Dr. Yen-Douangmala is rated as an Advanced provider by MediFind in the treatment of Refsum Disease. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Infantile Refsum Disease, Refsum Disease, Fungal Nail Infection, and Ingrown Toenail. Dr. Yen-Douangmala is board certified in American Board Of Podiatric Surgery.

    Advanced in Refsum Disease
    Podiatric Surgery
    Advanced in Refsum Disease
    Podiatric Surgery
    Referral may be required

    Coastal Podiatry Associates - Conway

    8020 Myrtle Trace Dr, 
    Conway, SC 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Scott Werter is a Podiatric Surgeon practicing medicine in Conway, South Carolina. Dr. Werter is rated as an Advanced provider by MediFind in the treatment of Refsum Disease. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Plantar Fasciitis, Tendinitis, Morton Neuroma, and Hammer Toe. Dr. Werter is currently accepting new patients.

    Advanced in Refsum Disease
    Advanced in Refsum Disease
    Referral may be required

    Associates In Neurology PC

    26850 Providence Parkway, Suite 210, 
    Novi, MI 
    Languages Spoken:
    English
    Accepting New Patients

    Nader Warra is a Neurologist practicing medicine in Novi, Michigan. Dr. Warra is rated as an Advanced provider by MediFind in the treatment of Refsum Disease. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Memory Loss, Autosomal Dominant Partial Epilepsy with Auditory Features, Seizures, and Peripheral Neuropathy. Dr. Warra is board certified in American Board Of Psychiatry And Neurology. Dr. Warra is currently accepting new patients.

    Advanced in Refsum Disease
    Internal Medicine
    Advanced in Refsum Disease
    Internal Medicine

    Office

    1921 Waldemere St Ste 605, 
    Sarasota, FL 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Robert Oppenheimer is a primary care provider, practicing in Internal Medicine in Sarasota, Florida. Dr. Oppenheimer is rated as an Advanced provider by MediFind in the treatment of Refsum Disease. He is also highly rated in 18 other conditions, according to our data. His clinical expertise encompasses Sitosterolemia, Urinary Tract Infection in Children, Lung Metastases, and Glucocorticoid-Remediable Aldosteronism. Dr. Oppenheimer is currently accepting new patients.

    Showing 1-20 of 118

    Last Updated: 09/26/2026

    What is the definition of Refsum Disease?

    Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms.

    When should I see a Refsum Disease doctor in The United States?

    There are various reasons why you may want to see a specialist, such as: 

    • Your primary care provider recommends it. 
    • Your condition requires expert knowledge and specialized care. 
    • Your symptoms persist or worsen despite treatment. 
    • You need specialized testing or procedures. 
    • You want a second opinion.  

    What should I consider when choosing a Refsum Disease doctor in The United States?

    It’s important to see a provider with expertise in your specific condition. Each provider profile in MediFind’s doctor database includes information on which conditions they treat, years of experience, research contributions, languages spoken, insurance plans accepted, and more.  

    How does MediFind rank Refsum Disease doctors in The United States?

    MediFind’s rankings are based on a variety of data sources, such as the number of articles a doctor has published in medical journals, participation in clinical trials and industry conferences, as well as the number of patients that provider sees for a given condition. Note that MediFind’s provider database is not based on user reviews, and providers do not pay to be included in the database. 

    What types of insurance are accepted by Refsum Disease doctors in The United States?

    Most profiles in MediFind’s doctor database include a list of insurance plans accepted by that provider. However, it’s a good idea to contact the provider’s office to make sure they still accept your insurance, then doublecheck by contacting your insurance plan to confirm they’re in network. 

    How can I book an appointment online with a Refsum Disease doctor in The United States?

    MediFind offers direct scheduling for certain providers using the “Request Appointment” button on that provider’s profile. If the schedule option is not available for a provider, tap the red “Show Phone Number” button on their profile to get their contact information. If you prefer to find providers who offer online scheduling, select “Schedules online” under the “Availability” category of the filter feature on the left side of the Refsum Disease doctor search results page. 

    Why is it important to get a second opinion from a different Refsum Disease doctor?

    Second opinions are an opportunity to confirm a diagnosis and its root cause, learn about alternative treatment options, or simply gain peace of mind. Many people, especially those with serious diagnoses, get second opinions so they can understand all their options and make informed decisions, so don’t hesitate to get one if you have any doubts or need more information or clarification regarding your care. Note that some insurance plans require second opinions, while others don’t cover second opinions, so be sure to confirm with your insurance provider first.   

    How can I prepare for my appointment with a Refsum Disease doctor in The United States?

    Prepare for your appointment by gathering the following items: 

    • Copies of medical records (dating back at least one year) 
    • Your medical history, including illnesses, medical conditions, surgeries, and other doctors you see 
    • Family history of disease 
    • List of current prescription drugs, over-the-counter medicines, vitamins, and herbal remedies or supplements including names and doses 
    • Allergies to medications, food, latex, insects, etc.  
    • List of questions and concerns 
    • Your insurance card 

    You might also contact the provider’s office to see if they offer transportation or childcare services or if you’re allowed to bring a loved one for support or to take notes during your visit. 

    What questions should I ask my Refsum Disease doctor?

    Here are some sample questions: 

    • Can you explain in simple terms what this condition is and how it’s treated? 
    • What symptoms or side effects should I watch for? 
    • What tests will be involved, and when can I expect results? 
    • Are there other specialists I need to see? 
    • What’s the best way to reach you if I have follow-up questions? 

    How can I learn about the latest clinical trials and research advances my Refsum Disease doctor may know about?

    MediFind’s Clinical Trials tool asks you a series of questions to help you narrow down your search by health condition, age, gender, location, how far you’re willing to travel, and more. Each question you answer filters down the number of trials until you find the ones that are most relevant to you. 

    MediFind’s Latest Advances tool features summaries of recent articles published in medical journals. We use cutting-edge technology to scour medical publication databases for the latest research advancements on any given condition, then we simplify this information in a way that’s useful and easy to understand. 

    Can I filter my search to show male or female Refsum Disease doctors in The United States?

    Look for the filter feature on the left side of the Refsum Disease doctor search results page. Select “Female” or “Male” under the “Gender” category to search for female or male providers exclusively. If the “Any” option is selected, it will pull results for both male and female providers. 

    Can I filter my search to find a Refsum Disease doctor that offers video calls?

    Look for the filter feature on the left-side of the Refsum Disease doctor search results page. Select “Offers telehealth visits” under the Availability category to search for providers who offer virtual appointments (video calls). 

    Reviewed on: 11/11/24  

    By: MediFind Medical Staff 

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