Retinitis punctata albescens

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ORPHA:52427OMIM:136880H35.5
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1Specialists8Treatment centers

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Overview

Retinitis punctata albescens (RPA) is a rare inherited eye disease that slowly damages the retina — the light-sensitive layer at the back of the eye. It is sometimes called 'white dot retinitis' because one of its most recognizable features is the appearance of small white or yellowish spots scattered across the retina, which can be seen during an eye exam. RPA belongs to a broader group of conditions called retinal dystrophies, and it is considered a variant of retinitis pigmentosa. The disease mainly affects the rod cells in the retina, which are responsible for seeing in dim light and for side (peripheral) vision. Over time, cone cells — which handle central vision and color — can also be affected. This means people with RPA often first notice difficulty seeing at night or in low-light settings, followed by a gradual narrowing of their field of vision. Central vision may remain relatively preserved for many years, but can eventually decline in some individuals. There is currently no cure for RPA. Treatment focuses on protecting remaining vision, managing symptoms, and supporting quality of life. Low vision aids, vitamin A supplementation (under medical supervision), and regular monitoring by a retinal specialist are the main approaches used today. Gene therapy research is ongoing and offers hope for future treatments.

Also known as:

Key symptoms:

Difficulty seeing in dim light or at night (night blindness)Gradual loss of side (peripheral) visionSlow adjustment when moving from bright to dark environmentsWhite or yellowish spots visible on the retina during eye examsReduced sensitivity to light across the visual fieldEventual narrowing of vision (tunnel vision)Possible decline in central vision in later stagesDifficulty with color vision in some casesSensitivity to bright lights (photophobia) in some individualsGradual worsening of overall vision over years to decades

Clinical phenotype terms (19)— hover any for plain English
Abnormal light- and dark-adapted electroretinogramHP:0008323Yellow/white retinal lesionHP:0030506Absent foveal reflexHP:0030825Central scotomaHP:0000603Progressive night blindnessHP:0007675Retinal pigment epithelial mottlingHP:0007814Attenuation of retinal blood vesselsHP:0007843Progressive visual field defectsHP:0007987Peripheral visual field lossHP:0007994Retinal atrophyHP:0001105LenticonusHP:0001142Macular atrophyHP:0007401Congenital sensorineural hearing impairmentHP:0008527Cystoid macular edemaHP:0011505Abnormal fundus pigmentationHP:0031605
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Retinitis punctata albescens.

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No actively recruiting trials found for Retinitis punctata albescens at this time.

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Specialists

1 foundView all specialists →
TP
Todd Durham, PhD
Specialist
PI on 1 active trial

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

Travel Grants

No travel grants are currently matched to Retinitis punctata albescens.

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Community

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Caregiver Resources

NORD Caregiver Resources

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

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Social Security Disability

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

Questions for your doctor

Bring these to your next appointment

  • Q1.Which gene mutation is causing my condition, and what does that mean for how my disease might progress?,How often should I have eye exams, and what tests will be done to monitor my vision?,Are there any clinical trials for gene therapy or other new treatments that I might be eligible for?,Should other members of my family be tested for this condition?,What low vision aids or rehabilitation services do you recommend for my current level of vision?,Is vitamin A supplementation appropriate for me, and what are the risks?,What signs should prompt me to contact you sooner between scheduled appointments?

Common questions about Retinitis punctata albescens

What is Retinitis punctata albescens?

Retinitis punctata albescens (RPA) is a rare inherited eye disease that slowly damages the retina — the light-sensitive layer at the back of the eye. It is sometimes called 'white dot retinitis' because one of its most recognizable features is the appearance of small white or yellowish spots scattered across the retina, which can be seen during an eye exam. RPA belongs to a broader group of conditions called retinal dystrophies, and it is considered a variant of retinitis pigmentosa. The disease mainly affects the rod cells in the retina, which are responsible for seeing in dim light and for

How is Retinitis punctata albescens inherited?

Retinitis punctata albescens follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Retinitis punctata albescens typically begin?

Typical onset of Retinitis punctata albescens is childhood. Age of onset can vary across affected individuals.

Which specialists treat Retinitis punctata albescens?

1 specialists and care centers treating Retinitis punctata albescens are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.