Features include: Macular degeneration and Reduced visual acuity.

RPGR function has not been fully characterized.

Macular degeneration, X-linked atrophic is associated with mutations in the RPGR gene on chromosome X.

Genetic testing for RPGR is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for macular degeneration, X-linked atrophic has been reported in the published literature.

No clinical trials have been registered for macular degeneration, X-linked atrophic.

6 publications have been identified in PubMed for macular degeneration, X-linked atrophic. Research spans Basic Science / Preclinical (33%), Epidemiology / Natural History (33%), and Diagnostic / Biomarker (17%).

Recent Publications

• Appelbaum T (2026). [PMID: 41649227](https://pubmed.ncbi.nlm.nih.gov/41649227/). *Investigative ophthalmology & visual science*. [Basic Science / Preclinical]

• Padhy SK (2025). [PMID: 40583321](https://pubmed.ncbi.nlm.nih.gov/40583321/). *Ophthalmic genetics*. [Case Report / Case Series]

• Uner OE (2025). [PMID: 39763288](https://pubmed.ncbi.nlm.nih.gov/39763288/). *Ophthalmic genetics*. [Epidemiology / Natural History]

• Ren M (2025). [PMID: 41288322](https://pubmed.ncbi.nlm.nih.gov/41288322/). *Investigative ophthalmology & visual science*. [Basic Science / Preclinical]

• Baffour-Awuah KA (2024). [PMID: 38989810](https://pubmed.ncbi.nlm.nih.gov/38989810/). *Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists)*. [Diagnostic / Biomarker]