Rare genetic eye disease

Last reviewed March 21, 2026

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ORPHA:101435

Who is this for?

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16Specialists 8Treatment centers

Where are you in your journey?

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.

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Overview

Also known as:

Rare genetic ophthalmologic disease

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Rare genetic eye disease.

View clinical trials →

Clinical Trials

View all trials with filters →

No actively recruiting trials found for Rare genetic eye disease at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Rare genetic eye disease community →

Specialists

16 foundView all specialists →

HM

Hélène Dollfus, MD

Specialist

Alström syndrome Bardet-Biedl syndrome Developmental defect of the eye+5 more

PI on 3 active trials

Active trials Directions Travel grants

JM

J-Louis Mandel, MD

Specialist

Bardet-Biedl syndrome Laurence-Moon syndrome Rare genetic retinal disorder+3 more

PI on 1 active trial

Active trials Directions Travel grants

AM

Alain Verloes, MD

Specialist

Bardet-Biedl syndrome Laurence-Moon syndrome Rare genetic retinal disorder+3 more

PI on 1 active trial1 Rare genetic eye disease publication

Active trials Directions Travel grants

DM

Didier Lacombe, MD

Specialist

Bardet-Biedl syndrome Laurence-Moon syndrome Rare genetic retinal disorder+3 more

PI on 1 active trial

Active trials Directions Travel grants

LM

Laryssa A Huryn, M.D.

NEW YORK, NY

Specialist

Rare genetic disease Rare ophthalmic disorder Retinitis pigmentosa+2 more

PI on 5 active trials

Active trials Directions Travel grants

JD

Jaap M van Laar, Prof. dr.

Specialist

Idiopathic panuveitis IgG4-related disease IgG4-related ophthalmic disease+6 more

PI on 1 active trial

Active trials Directions Travel grants

BM

Brian P Brooks, M.D.

Bethesda, Maryland

Specialist

Rare Disease Specialist

Achromatopsia Best vitelliform macular dystrophy Blue cone monochromatism+21 more

PI on 8 active trials

Active trials Directions Travel grants

TB

Tommaso Pippucci, Biologist

Bologna

Specialist

Rare Disease Specialist

Neuromuscular disease Rare genetic tumor Rare ophthalmic disorder+2 more

PI on 3 active trials

Active trials Directions Travel grants

CM

Christian Brandt, MD

Specialist

Bardet-Biedl syndrome Laurence-Moon syndrome Rare genetic retinal disorder+3 more

PI on 1 active trial

Active trials Directions Travel grants

CB

Christine BODEMER

Bobigny

Specialist

Rare Disease Specialist

Benign peripheral nerve sheath tumor Bullous pemphigoid Ectodermal dysplasia syndrome+12 more

PI on 2 active trials

Active trials Directions Travel grants

RM

Régis Hanfard, MD

Specialist

Bardet-Biedl syndrome Laurence-Moon syndrome Rare genetic retinal disorder+3 more

PI on 1 active trial

Active trials Directions Travel grants

PM

Pascal Bousquet, MD

Specialist

Bardet-Biedl syndrome Laurence-Moon syndrome Rare genetic retinal disorder+3 more

PI on 1 active trial

Active trials Directions Travel grants

SM

Sylvie Manouvrier, MD

Specialist

Bardet-Biedl syndrome Laurence-Moon syndrome Rare genetic retinal disorder+3 more

PI on 1 active trial

Active trials Directions Travel grants

CM

Catherine Arnold, MD

Specialist

Bardet-Biedl syndrome Laurence-Moon syndrome Rare genetic retinal disorder+3 more

PI on 1 active trial

Active trials Directions Travel grants

VM

Virginie Bernard, MD

Specialist

Bardet-Biedl syndrome Laurence-Moon syndrome Rare genetic retinal disorder+3 more

PI on 1 active trial

Active trials Directions Travel grants

SS

Suyash Shringarpure

Specialist

Hermansky-Pudlak syndrome Oculocutaneous albinism Rare genetic coagulation disorder+1 more

PI on 1 active trial

Active trials Directions Travel grants

Treatment Centers

8 centers

Baylor College of Medicine Rare Disease Center ↗

Baylor College of Medicine

📍 Houston, TX

Stanford Medicine Rare Disease Center ↗

Stanford Medicine

📍 Stanford, CA

NIH Clinical Center Undiagnosed Diseases Program ↗

National Institutes of Health

📍 Bethesda, MD

UCLA UDN Clinical Site ↗

UCLA Health

📍 Los Angeles, CA

Baylor College of Medicine UDN Clinical Site ↗

Baylor College of Medicine

📍 Houston, TX

Harvard/MGH UDN Clinical Site ↗

Massachusetts General Hospital

📍 Boston, MA

Mayo Clinic Center for Individualized Medicine ↗

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

UCLA Rare Disease Day Program ↗

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Rare genetic eye disease.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Rare genetic eye diseaseForum →

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Latest news about Rare genetic eye disease

No recent news articles for Rare genetic eye disease.

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Rare genetic eye disease

Which specialists treat Rare genetic eye disease?

16 specialists and care centers treating Rare genetic eye disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.