Abstract
Concentric retinitis pigmentosa (RP), in which retinal degeneration is limited in the periphery, is rare and little information exists to date on the subject. Herein, we describe the clinical and genetic characteristics of this atypical form of RP. We retrospectively reviewed our database and identified 14 patients with concentric RP. Additionally, 14 patients with age-matched typical RP were also included. Patients with concentric RP had better visual acuity (logarithm of minimum angle of resolution −0.04 vs. 0.32, p = 0.047) and preserved ellipsoid zones (7630 µm vs. 2646 µm, p < 0.001) compared to typical RP. The electroretinogram showed subnormal but recordable responses in patients with concentric RP. Genetic testing was done in nine patients with concentric RP and revealed causative mutations in the EYS gene in one patient and the RP9 gene in one patient. Two patients had myotonic dystrophy and the diagnosis was revised as myotonic dystrophy-associated retinopathy. Concentric RP is a rare, atypical form of RP with better visual function. There is some overlap in the causative genes in concentric and typical RP. Myotonic dystrophy-associated retinopathy is an important differential diagnosis.
Highlights
Inherited retinal dystrophy (IRD) includes a heterogenous group of diseases characterized by retinal cell death/impairment due to genetic causes
We identified 15 patients from 14 families with concentric retinitis pigmentosa (RP) who met all the inclusion criteria, but 1 patient was excluded because the patient was accompanied with central serous chorioretinopathy at the initial presentation
We describe the characteristics of patients with concentric RP who exhibited retinal degeneration only in the periphery
Summary
Inherited retinal dystrophy (IRD) includes a heterogenous group of diseases characterized by retinal cell death/impairment due to genetic causes. The most common form is retinitis pigmentosa (RP), which is a major cause of visual impairment in developed countries [1]. The retinal degeneration generally starts with the mid-peripheral retina, inducing ring-shaped or concentric visual field loss, and progresses toward the macular and the periphery. Ultra-wide-field scanning laser ophthalmoscopy is one of recent developments of imaging techniques in ophthalmology. It enables the observation of the peripheral retina with a single image [2]. The degenerated retina and pigment epithelium generally show decreased FAF, and these are clearly depicted with the imaging [3]. A combination of these techniques, ultra-wide-field FAF imaging, is useful for monitoring patients with RP and provides otherwise inaccessible information [4]. Amua‐l tdoosmominaalndtovmitirneaonrettvinitorechoroertoiindoocphaotrhoyid(oApDaVthIyR(CA)DisVaIlRsoCc)hisaaralscotecrhizaerdacbteyriazpederbipyhaepraelriapnhd‐ ecriracluamndferceirnctuiaml freerteinnatilalbarentdinaolf bpaingmd eonf tpairgymaeltnetraartyioanlste, raantidonosf,teanndacocfotemnpaacncioems pmaincireosmcoircnroeaco[r7n].eMa [u7t]a.tMionustaotifoBnEsSoTf1BwEeSrTe1idweenrteifiieddenatsifaiecdauasseaocfatuhseedoisfetahsee d[8is].eaInseth[8e]p. rInestehnet pstruedseyn, wt setuddeysc,rwibee dmeuscltriimbeodmaul ilmtimagoidnagl pimheangointygppeshaenndottyhpeegseannedticthaenagleynseistiocfacnoanlcyesnistroicf cRoPncinenctorimc pRaPriisnoncowmipthartiysponicawl iRthP.tyInpiacdadl RitiPo.nI,naandodthiteiornd,ifafneorethnetiradl dififaegrennotsiaisl,dmiaygontoosniisc, mdyysottroonpihcyd-ayssstorocpiahteyd‐arsestoincioapteadthrye,tiisnodpisactuhsys,eids.discussed
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