IllnessRetinitis pigmentosa, autosomal dominant; 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. Nearly 100 different autosomal dominant inherited forms of RP are known. In up to >80% of autosomal dominantly inherited RP, the genetic predisposition can be identified (depending on population and clinical preselection). There is sometimes incomplete penetrance and varying clinical expression. An inconspicuous genetic finding does not mean that the suspected clinical diagnosis is excluded.

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

• Alias: Retinopathia pigmentosa
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2HH (JAG1)
• Allelic: Choroidal dystrophy, central areolar 2 (PRPH2)
• Allelic: Deafness, congenital heart defects + posterior embryotoxon (JAG1)
• Allelic: Immunodeficiency 13 (UNC119)
• Allelic: Joubert syndrome 35 (ARL3)
• Allelic: Leber congenital amaurosis 1 (GUCY2D)
• Allelic: Leber congenital amaurosis 11 (IMPDH1)
• Allelic: Leber congenital amaurosis 13 (RDH12)
• Allelic: Leber congenital amaurosis 18 (PRPH2)
• Allelic: Leber congenital amaurosis 7 (CRX)
• Allelic: Macular dystrophy, patterned, 1 (PRPH2)
• Allelic: Macular dystrophy, vitelliform, 3 (PRPH2)
• Allelic: Macular dystrophy, vitelliform, 4 (IMPG1)
• Allelic: Macular dystrophy, vitelliform, 5 (IMPG2)
• Allelic: Night blindness, congenital stationary, AD 1 (RHO)
• Allelic: PERCHING syndrome (KLHL7)
• Allelic: Retinal degeneration, AR, clumped pigment type (NRL)
• Allelic: Retinitis punctata albescens (PRPH2)
• Allelic: Retinitis punctata albescens (RHO)
• Allelic: Tetralogy of Fallot (JAG1)
• Alagille syndrome 1 (JAG1)
• Allelic: Leber congenital amaurosis 2 (RPE65)
• Allelic: Pontocerebellar hypoplasia, type 17 (PRDM13)
• Allelic: Retinitis pigmentosa 20 (RPE65)
• Bothnia retinal dystrophy (RLBP1)
• Cerebellar dysfunction, impaired intellectual development + hypogonadotropic hypogonadism (PRDM13)
• Cone-rod dystrophy (UNC119)
• Cone-rod dystrophy 10 (SEMA4A)
• Cone-rod dystrophy 6 (GUCY2D)
• Cone-rod retinal dystrophy-2 (CRX)
• Newfoundland rod-cone dystrophy (RLBP1)
• North Carolina macular dystrophy [MONDO:0007630; panelapp] (PRDM13)
• Retinal degeneration, late-onset, AD (C1QTNF5)
• Retinal dystrophy with inner retinal dysfunction + ganglion cell abnormalities (ITM2B)
• Retinitis pigmentosa 1 (RP1)
• Retinitis pigmentosa 10 (IMPDH1)
• Retinitis pigmentosa 11 (PRPF31)
• Retinitis pigmentosa 13 (PRPF8)
• Retinitis pigmentosa 17 [MONDO:0010945] (CA4)
• Retinitis pigmentosa 18 (PRPF3)
• Retinitis pigmentosa 27 (NRL)
• Retinitis pigmentosa 31 (TOPORS)
• Retinitis pigmentosa 33 (SNRNP200)
• Retinitis pigmentosa 35 (SEMA4A)
• Retinitis pigmentosa 37 (NR2E3)
• Retinitis pigmentosa 4, AD/AR (RHO)
• Retinitis pigmentosa 42 (KLHL7)
• Retinitis pigmentosa 48 (GUCA1B)
• Retinitis pigmentosa 50 (BEST1)
• Retinitis pigmentosa 56 (IMPG2)
• Retinitis pigmentosa 60 (PRPF6)
• Retinitis pigmentosa 7 + digenic form (PRPH2)
• Retinitis pigmentosa 7, digenic form (ROM1)
• Retinitis pigmentosa 70 (PRPF4)
• Retinitis pigmentosa 79 (HK1)
• Retinitis pigmentosa 83 (ARL3)
• Retinitis pigmentosa 86 (KIAA1549)
• Retinitis pigmentosa 87 with choroidal involvement (RPE65)
• Retinitis pigmentosa 89 (KIF3B)
• Retinitis pigmentosa 9 (RP9)
• Retinitis pigmentosa 91 (IMPG1)
• Retinitis pigmentosa [panelapp] (RDH12)
• Retinitis pigmentosa, concentric (BEST1)
• Sveinsson chorioretinal atrophy (TEAD1)
• Vitreoretinopathy, neovascular inflammatory (CAPN5)