OBSOLETE: Inherited retinal disorder

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ORPHA:71862
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1FDA treatments24Active trials8Treatment centers

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

Inherited retinal disorders (IRDs) are a large group of genetic eye conditions that damage the light-sensitive cells at the back of the eye, called the retina. The retina works like the film in a camera — it captures light and sends signals to the brain so you can see. When the retina is damaged by a genetic mutation, vision gradually gets worse over time, and in many cases can lead to severe vision loss or blindness. The Orphanet code 71862 was previously used as a broad, umbrella label for inherited retinal disorders before more specific diagnoses became available. Today, doctors recognize many distinct types of IRDs, including retinitis pigmentosa, Leber congenital amaurosis, Stargardt disease, choroideremia, and cone-rod dystrophy, among others. Each type is caused by mutations in different genes and may affect vision in slightly different ways. Common symptoms include difficulty seeing in dim light or at night, loss of side (peripheral) vision, blurry central vision, and sensitivity to bright light. Some forms begin in childhood, while others appear in adulthood. Treatment options are expanding rapidly, with gene therapy now approved for some specific types. Management focuses on protecting remaining vision, using low-vision aids, and monitoring for changes over time.

Also known as:

Key symptoms:

Difficulty seeing in low light or at night (night blindness)Loss of side (peripheral) vision, sometimes described as tunnel visionBlurry or distorted central visionSensitivity to bright lights or glareColors appearing faded or washed outDifficulty reading or recognizing facesFlashing lights or visual disturbancesGradual worsening of vision over months or yearsDifficulty adjusting when moving between bright and dark environmentsBlind spots in the field of vision

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

FDA & Trial Timeline

10 events
Mar 2026The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa

Sheba Medical Center — PHASE1, PHASE2

TrialNOT YET RECRUITING
Feb 2026A Phase 1/2 Study in Healthy Volunteers and Participants With Autosomal Dominant Retinitis Pigmentosa (RHO-adRP)

Octant, Inc. — PHASE1, PHASE2

TrialRECRUITING
Jul 2025A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa

Zhongshan Ophthalmic Center, Sun Yat-sen University — PHASE3

TrialNOT YET RECRUITING
Jul 2025A Study of LX107 Gene Therapy in AIPL1-IRD Patients

Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine — EARLY_PHASE1

TrialRECRUITING
Jun 2025A Repeat-Dose, Open-Label, Two Arm Safety and Efficacy Study of Two Doses of VP-001 Administered Intravitreally in Participants With Confirmed PRPF31 Mutation-Associated Retinal Dystrophy, Including Participants Previously Treated With VP001

PYC Therapeutics — PHASE1, PHASE2

TrialRECRUITING
May 2025The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration

University of Rochester — PHASE1

TrialRECRUITING
Apr 2025An Open-label, Dose-ascending Study of IGT001 for Retinitis Pigmentosa

Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine — PHASE1

TrialRECRUITING
Mar 2025Prospective Exploratory Cohort Study on Ganglion Cell Degeneration in Retinitis Pigmentosa Patients

University Medical Center Goettingen

TrialENROLLING BY INVITATION
Jun 2024A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa

Ocugen — PHASE3

TrialACTIVE NOT RECRUITING
Jun 2024MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)

PYC Therapeutics — PHASE1

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

1 available

LUXTURNA

voretigene neparvovec-rzyl· Spark Therapeutics, Inc.

indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy

Clinical Trials

20 recruitingView all trials with filters →
Phase 32 trials
A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
Phase 3
Active
PI: Huma Qamar (Ocugen) · Sites: Phoenix, Arizona; La Jolla, California +15 more · Age: 399 yrs
A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
Phase 3
Actively Recruiting
PI: Janssen Pharmaceutical K.K., Japan Clinical Trial (Janssen Pharmaceutical K.K.) · Sites: Meguro-ku · Age: 599 yrs
Phase 17 trials
MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
Phase 1
Actively Recruiting
· Sites: Jacksonville, Florida; Ann Arbor, Michigan +3 more · Age: 1299 yrs
FIGHT-RP 1 Extension Study
Phase 1
Active
PI: Peter Campochiaro (Johns Hopkins University) · Sites: Baltimore, Maryland · Age: 1899 yrs
Safety of Cultured Allogeneic Adult Umbilical Cord Derived Mesenchymal Stem Cells for NAION
Phase 1
Actively Recruiting
PI: Chadwick Prodromos, MD (The Foundation for Orthopaedics and Regenerative M) · Sites: St John's; Buenos Aires
Safety and Tolerability of Intravitreal Administration of VG901 in Patients With Retinitis Pigmentosa Due to Mutations in the CNGA1 Gene
Phase 1
Actively Recruiting
PI: Katarina Stingl (Center for Ophthalmology, University of Tuebingen) · Sites: Tübingen · Age: 1899 yrs
An Open-label, Dose-ascending Study of IGT001 for Retinitis Pigmentosa
Phase 1
Actively Recruiting
· Sites: Shanghai · Age: 1899 yrs
Clinical Trial of Autologous Intravitreal Bone-marrow CD34+ Stem Cells for Retinopathy
Phase 1
Active
PI: Susanna s Park, MD PhD (University of California Davis Eye Center) · Sites: Sacramento, California · Age: 18100 yrs
The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration
Phase 1
Actively Recruiting
· Sites: Rochester, New York · Age: 1899 yrs
Other6 trials
Natural History Study in Patients with PDE6A-, PDE6B- and RHO-linked Retinitis Pigmentosa
Actively Recruiting
PI: Katarina Stingl, Prof (Department for Opthalmology) · Sites: Tübingen, Baden-Wurttemberg · Age: 599 yrs
Genetics of Inherited Eye Disease
Actively Recruiting
PI: Laryssa A Huryn, M.D. (National Eye Institute (NEI)) · Sites: Bethesda, Maryland · Age: 1120 yrs
A Long-Term Follow-Up Study in Subjects Who Received vMCO-I Administered Via Intravitreal Injection
Enrolling by Invitation
PI: Samarendra Mohanty (Nanoscope Therapeutics Inc.) · Sites: Cuttack, Odisha · Age: 1899 yrs
Non-Interventional Long Term Follow-up Study of Participants Previously Enrolled in the RESTORE Study
Active
PI: Samuel Barone, MD (Nanoscope Therapeutics Inc.) · Sites: Beverly Hills, California; Pensacola, Florida +4 more · Age: 1899 yrs
Prospective Exploratory Cohort Study on Ganglion Cell Degeneration in Retinitis Pigmentosa Patients
Enrolling by Invitation
PI: Emilie Macé, Professor (Else Kroener Fresenius Center for Optogenetic Ther) · Sites: Göttingen · Age: 1899 yrs
Study of New Mutations in Cone Disorders
Actively Recruiting
PI: Claire-Marie DHAENENS, MD (University Hospital, Lille) · Sites: Lille · Age: 399 yrs

No specialists are currently listed for OBSOLETE: Inherited retinal disorder.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

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Questions for your doctor

Bring these to your next appointment

  • Q1.Which specific type of inherited retinal disorder do I have, and which gene is causing it?,Is there a gene therapy or clinical trial that I might be eligible for?,How quickly is my vision likely to change, and what should I watch for?,Should other family members be tested, and what does this mean for my children?,What low-vision services or rehabilitation programs do you recommend?,Are there any vitamins or lifestyle changes that might help protect my remaining vision?,How often should I come in for monitoring, and what tests will be done?

Common questions about OBSOLETE: Inherited retinal disorder

What is OBSOLETE: Inherited retinal disorder?

Inherited retinal disorders (IRDs) are a large group of genetic eye conditions that damage the light-sensitive cells at the back of the eye, called the retina. The retina works like the film in a camera — it captures light and sends signals to the brain so you can see. When the retina is damaged by a genetic mutation, vision gradually gets worse over time, and in many cases can lead to severe vision loss or blindness. The Orphanet code 71862 was previously used as a broad, umbrella label for inherited retinal disorders before more specific diagnoses became available. Today, doctors recognize

Are there clinical trials for OBSOLETE: Inherited retinal disorder?

Yes — 20 recruiting clinical trials are currently listed for OBSOLETE: Inherited retinal disorder on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.