Disease Atlas / Disease detail

X-linked retinitis pigmentosa

An evidence-bounded guide to genetics, visual change, diagnosis, rehabilitation, and investigational therapies.

X-linked retinitis pigmentosa · XLRP · X-linked RP

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Disease at a glance

Start with the essentials, then explore the patient and research views.

Public revision · 338e480060da

Disease class: XLRP is an inherited form of retinitis pigmentosa associated with changes in genes on the X chromosome.
Core mechanism: Progressive photoreceptor damage can gradually reduce visual function.
Genes or cause: Pathogenic variants in RPGR and RP2 are recognized genetic causes of XLRP.
Typical features: Reduced night vision and constriction of peripheral vision are commonly described, but onset and pace vary between individuals.
Variability: Retinal findings and visual symptoms in female carriers can range from minimal to clinically significant.
Diagnosis: Diagnostic evaluation combines ophthalmic examination, retinal functional and structural testing, family history, and genetic testing.
Management: Low-vision aids and visual rehabilitation can help people use remaining vision in daily life.
Treatment and research: Several approaches, including gene therapy, are under study, but trial interventions should not be interpreted as established standard care.
Reading evidence: A trial registry status reports administrative study progress and does not establish efficacy or individual eligibility.
Key caution: Natural-history studies use repeated measurements to characterize progression across age and genotype groups.

A structured guide for understanding the disease and preparing for clinical conversations.

XLRP is an inherited form of retinitis pigmentosa associated with changes in genes on the X chromosome.

Reduced night vision and constriction of peripheral vision are commonly described, but onset and pace vary between individuals.

Progressive photoreceptor damage can gradually reduce visual function.

Pathogenic variants in RPGR and RP2 are recognized genetic causes of XLRP.

Retinal findings and visual symptoms in female carriers can range from minimal to clinically significant.

Diagnostic evaluation combines ophthalmic examination, retinal functional and structural testing, family history, and genetic testing.

Low-vision aids and visual rehabilitation can help people use remaining vision in daily life.

Several approaches, including gene therapy, are under study, but trial interventions should not be interpreted as established standard care.

Trial interpretation requires attention to the target gene and variant, delivery method, follow-up duration, and endpoints.

An individual follow-up plan is discussed with the clinical team using test findings, functional change, and daily needs.

This material is for disease education and is not a personal diagnosis or treatment instruction.

A trial registry status does not establish efficacy or regulatory approval.