The 20 Best Refsum Disease Doctors Near Me

Find the Top Refsum Disease Experts and Specialists

Last Updated: 06/30/2026

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MediFind found 383 doctor with experience in Refsum Disease. Of these, 287 are Experienced, 75 are Advanced, 19 are Distinguished and 2 are Elite.

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383 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.

    Elite in Refsum Disease
    Elite in Refsum Disease
    Referral may be required
    Amsterdam, NH, NL 

    Ronald Wanders practices practicing medicine in Amsterdam, Netherlands. Mr. Wanders is rated as an Elite expert by MediFind in the treatment of Refsum Disease. He is also highly rated in 32 other conditions, according to our data. His clinical expertise encompasses Zellweger Syndrome, Refsum Disease, Barth Syndrome, and Protein Deficiency.

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

    CUIMC/Edward S. Harkness Eye Institute

    622 W 168th St Bldg 3RD Fl 3, 
    New York, NY 
    Experience:
    44+ years
    Languages Spoken:
    English
    Accepting New Patients

    Tarun Sharma is an Ophthalmologist practicing medicine in New York, New York. He has been practicing medicine for over 44 years. Dr. Sharma is rated as a Distinguished 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 Diabetic Retinopathy, X-Linked Juvenile Retinoschisis, Late-Onset Retinal Degeneration, Vitrectomy, and Trabeculectomy. Dr. Sharma is currently accepting new patients.

    Learn about our expert tiers
    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  .

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

    Office

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

    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 Refsum Disease, Infantile Refsum Disease, Troyer Syndrome, and Spastic Paraplegia Type 4.

    Distinguished in Refsum Disease
    Distinguished in Refsum Disease
    Referral may be required
    Amsterdam, NH, NL 

    Hans Waterham practices practicing medicine in Amsterdam, Netherlands. Mr. Waterham is rated as a Distinguished expert 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 Zellweger Syndrome, Refsum Disease, X-Linked Chondrodysplasia Punctata 2, and Chondrodysplasia Punctata Syndrome.

    Distinguished in Refsum Disease
    Distinguished in Refsum Disease
    Referral may be required
    Amsterdam, NH, NL 

    Sacha Ferdinandusse practices practicing medicine in Amsterdam, Netherlands. Ms. Ferdinandusse is rated as a Distinguished expert by MediFind in the treatment of Refsum Disease. She is also highly rated in 26 other conditions, according to our data. Her clinical expertise encompasses Zellweger Syndrome, Primary Carnitine Deficiency, Protein Deficiency, and Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency.

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

    Guy's And St. Thomas' Hospitals

    London, ENG, GB 

    Anthony Wierzbicki practices practicing medicine in London, United Kingdom. Mr. Wierzbicki is rated as a Distinguished expert 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 Apolipoprotein C2 Deficiency, Familial Lipoprotein Lipase Deficiency, High Cholesterol, and Refsum Disease.

    Distinguished in Refsum Disease
    Distinguished in Refsum Disease
    Referral may be required
    2350 Ramiro Barcelos Street, 
    Porto Alegre, RS, BR 

    Moacir Wajner practices practicing medicine in Porto Alegre, Brazil. Wajner is rated as a Distinguished expert by MediFind in the treatment of Refsum Disease. They are also highly rated in 25 other conditions, according to our data. Their clinical expertise encompasses Medium-Chain Acyl-CoA Dehydrogenase Deficiency, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Glutaric Acidemia Type 1, and Sulfite Oxidase Deficiency.

    Distinguished in Refsum Disease
    Distinguished in Refsum Disease
    Referral may be required
    Amsterdam, NH, NL 

    Bwee The-Poll practices practicing medicine in Amsterdam, Netherlands. The-Poll is rated as a Distinguished expert by MediFind in the treatment of Refsum Disease. They are also highly rated in 14 other conditions, according to our data. Their clinical expertise encompasses Zellweger Syndrome, X-Linked Chondrodysplasia Punctata 2, Chondrodysplasia Punctata Syndrome, and Pontocerebellar Hypoplasia.

    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
    Offers Telehealth

    Odette Campbell is a primary care provider, practicing in Radiation Oncologist 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 9 other conditions, according to our data. Her clinical expertise encompasses Infantile Refsum Disease, Refsum Disease, Gastroparesis, and Glucocorticoid-Remediable Aldosteronism.

    Distinguished in Refsum Disease
    Distinguished in Refsum Disease
    Referral may be required
    Leipziger Str. 44, 
    Magdeburg, ST, DE 

    Peter Schonfeld practices practicing medicine in Magdeburg, Germany. Mr. Schonfeld is rated as a Distinguished expert by MediFind in the treatment of Refsum Disease. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Refsum Disease, Adrenoleukodystrophy (ALD), Addison's Disease, and CACH Syndrome.

    Distinguished in Refsum Disease
    Distinguished in Refsum Disease
    Referral may be required
    Kuwait City, KU, KW 

    Gursev Dhaunsi practices practicing medicine in Kuwait City, Kuwait. Dhaunsi is rated as a Distinguished expert by MediFind in the treatment of Refsum Disease. They are also highly rated in 5 other conditions, according to our data. Their clinical expertise encompasses Refsum Disease, Galactosemia, Galactose Epimerase Deficiency, and Classic Galactosemia.

    Distinguished in Refsum Disease
    Distinguished in Refsum Disease
    Referral may be required
    Prague, PR, CZ 

    Dana Brozkova-Safka practices practicing medicine in Prague, Czech Republic. Brozkova-Safka is rated as a Distinguished expert by MediFind in the treatment of Refsum Disease. They are also highly rated in 5 other conditions, according to our data. Their clinical expertise encompasses Refsum Disease, Charcot-Marie-Tooth Disease, Beta-Mannosidosis, and Spastic Paraplegia Type 7.

    Distinguished in Refsum Disease
    Distinguished in Refsum Disease
    Referral may be required
    389 Xincun Road, 
    Xincun, CN 

    Li-xi Li practices practicing medicine in Xincun, China. Li is rated as a Distinguished expert by MediFind in the treatment of Refsum Disease. They are also highly rated in 3 other conditions, according to our data. Their clinical expertise encompasses Refsum Disease, Charcot-Marie-Tooth Disease, Focal Dystonia, and Drug Induced Dyskinesia.

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

    Guy's & St Thomas' Hospitals NHS Foundation Trust

    London, ENG, GB 

    Sarah Firman practices practicing medicine in London, United Kingdom. Ms. Firman is rated as a Distinguished expert 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 Refsum Disease, Phenylketonuria (PKU), and ADULT Syndrome.

    Distinguished in Refsum Disease
    Distinguished in Refsum Disease
    Referral may be required
    Amsterdam, NH, NL 

    Katharina Herzog practices practicing medicine in Amsterdam, Netherlands. Ms. Herzog is rated as a Distinguished expert by MediFind in the treatment of Refsum Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Refsum Disease, Zellweger Syndrome, Hepatitis C, Type 2 Diabetes (T2D), and Gastric Bypass.

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

    Massachusetts Eye And Ear

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

    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, Late-Onset Retinal Degeneration, Retinopathy Pigmentary Mental Retardation, and Vitrectomy.

    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
    Distinguished in Refsum Disease
    Referral may be required
    School Of Life Course Sciences, 
    London, ENG, GB 

    Omar Mahroo practices practicing medicine in London, United Kingdom. Mr. Mahroo is rated as a Distinguished expert 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 Retinitis Pigmentosa, Retinopathy Pigmentary Mental Retardation, Late-Onset Retinal Degeneration, Cataract Removal, and Trabeculectomy.

    Showing 1-20 of 383

    Last Updated: 06/30/2026

    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 near me?

    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 near me?

    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 near me?

    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 near me?

    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 near me?

    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 near me?

    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 near me?

    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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