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Background <p>The X‑linked retinitis pigmentosa (XLRP) is a&#xa0;rare and progressive form of retinitis pigmentosa (RP) that, due to its X‑linked inheritance, typically affects men, with early onset and rapid progression. In most cases, the disease is caused by a&#xa0;mutation in the <i>RPGR</i> gene. Women are generally considered asymptomatic carriers because of the inheritance pattern.</p> Case presentation <p>The subject of this case report is a&#xa0;31-year-old woman who was examined at the Department of Ophthalmology at the Medical University of Graz due to progressive bilateral visual decline and nyctalopia. A&#xa0;thorough ophthalmological examination was conducted, detailed medical and family history acquired and genetic testing was performed. Best corrected visual acuity was 20/30 and 20/60. The Goldmann visual field test revealed pronounced concentric constrictions in both eyes. Optical coherence tomography and dilated fundus examination revealed findings typical of retinitis pigmentosa, including chorioretinal atrophy, optic disc pallor and attenuated retinal vessels. The family history revealed that both her brother and uncle were also affected by retinitis pigmentosa. Genetic testing revealed a&#xa0;likely pathogenic mutation in the <i>RPGR</i> gene (c.2635G&gt;T) with random X‑inactivation which most likely led to manifest X‑linked retinitis pigmentosa.</p> Conclusion <p>Female carriers with random X‑inactivity can exhibit disease courses similar to those of male patients if the mutant gene becomes dominant due to X‑inactivity. In female patients with symptoms typical for RP, typical clinical manifestation and a&#xa0;positive family history involving affected male relatives, a&#xa0;comprehensive genetic evaluation should be performed, including assessment for X‑linked forms of retinitis pigmentosa. Furthermore, disease manifestation can occur in random X‑inactivation, indicating that additional, yet unidentified mechanisms may contribute to the pathogenesis of X‑linked disorders.</p>

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RPGR-assoziierte X-chromosomale Retinitis pigmentosa – Diagnostische Besonderheiten im Fall einer weiblichen Patientin

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年6月22日

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  • Lena Marie Haiden,
  • K. Vollnhofer,
  • M. Casazza,
  • S. Kamper,
  • R. W. Strauss,
  • L. Posch-Pertl

摘要

Background

The X‑linked retinitis pigmentosa (XLRP) is a rare and progressive form of retinitis pigmentosa (RP) that, due to its X‑linked inheritance, typically affects men, with early onset and rapid progression. In most cases, the disease is caused by a mutation in the RPGR gene. Women are generally considered asymptomatic carriers because of the inheritance pattern.

Case presentation

The subject of this case report is a 31-year-old woman who was examined at the Department of Ophthalmology at the Medical University of Graz due to progressive bilateral visual decline and nyctalopia. A thorough ophthalmological examination was conducted, detailed medical and family history acquired and genetic testing was performed. Best corrected visual acuity was 20/30 and 20/60. The Goldmann visual field test revealed pronounced concentric constrictions in both eyes. Optical coherence tomography and dilated fundus examination revealed findings typical of retinitis pigmentosa, including chorioretinal atrophy, optic disc pallor and attenuated retinal vessels. The family history revealed that both her brother and uncle were also affected by retinitis pigmentosa. Genetic testing revealed a likely pathogenic mutation in the RPGR gene (c.2635G>T) with random X‑inactivation which most likely led to manifest X‑linked retinitis pigmentosa.

Conclusion

Female carriers with random X‑inactivity can exhibit disease courses similar to those of male patients if the mutant gene becomes dominant due to X‑inactivity. In female patients with symptoms typical for RP, typical clinical manifestation and a positive family history involving affected male relatives, a comprehensive genetic evaluation should be performed, including assessment for X‑linked forms of retinitis pigmentosa. Furthermore, disease manifestation can occur in random X‑inactivation, indicating that additional, yet unidentified mechanisms may contribute to the pathogenesis of X‑linked disorders.