IllnessRetinitis pigmentosa, X linked, differential diagnosis

NGS +

Retinitis Pigmentosa (RP) is the most common form of hereditary retinal dystrophy characterised by photoreceptor degeneration. RP manifests with initial night blindness and tunnel vision, followed by secondary loss of cone photoreceptors, leading to reduced visual acuity and macular degeneration. The onset and progression of RP and the severity of symptoms can vary significantly between patients, even within the same family. Autosomal recessively inherited RP is identified in more than half of all patients, and X-linked inheritance is comparatively rare. In males, an altered copy of the gene in each cell is sufficient to cause the disease. In women, mutations in both copies of the gene must usually occur to cause the disease. However, at least 20% of women who carry only one mutated copy of the gene develop retinal degeneration and associated vision loss. In most cases, men experience more severe symptoms of the disease than women. However, there are often different clinical manifestations. An inconspicuous genetic finding does not exclude a suspected clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1417/

• Alias: Retinopathia pigmentosa XL
• Allelic: Aland Island eye disease (CACNA1F)
• Allelic: Charcot-Marie-Tooth disease, XLR, 5 (PRPS1)
• Allelic: Deafness, XL 1 (PRPS1)
• Allelic: Gout, PRPS-related (PRPS1)
• Allelic: Macular degeneration, XL atrophic (RPGR)
• Allelic: Night blindness, congenital stationary (incomplete), 2A, XL (CACNA1F)
• Allelic: Phosphoribosylpyrophosphate synthetase superactivity (PRPS1)
• Arts syndrome (PRPS1)
• Choroideremia (CHM)
• Cone-rod dystrophy, XL, 1 (RPGR)
• Cone-rod dystrophy, XL, 3 (CACNA1F)
• Exudative vitreoretinopathy 2, XL (NDP)
• Norrie disease (NDP)
• Phosphoglycerate kinase 1 deficiency [myopathy + RP] (PGK1)
• Retinitis pigmentosa 2 (RP2)
• Retinitis pigmentosa 23 (OFD1)
• Retinitis pigmentosa 3 (RPGR)
• Retinitis pigmentosa, XL + sinorespiratory infections, with/-out deafness (RPGR)