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. 2024 Feb 18;17(2):311–316. doi: 10.18240/ijo.2024.02.13

Table 1. Clinical features of RDH12-induced retinal degeneration caused by the mutation of 146C>T (p.T49M) from the published literatures.

Patient No. Age (y) Onset age (y) Gender Visual acuity ERG Fundus Diagnosis Author&year
1 28 3 NA OD:0.15 OS: 0.10 Extinguished Typical RP RP Valverde, 2009
2 13 NA F 0.1 Diminished NA CORD Beryozkin, 2014
3 12 NA F NA Diminished NA CORD Beryozkin, 2014
4 11 NA F 0.05 Diminished NA CORD Beryozkin, 2014
5 9 NA F 0.1 Diminished NA CORD Beryozkin, 2014
6 7 NA M 0.05 Diminished NA CORD Beryozkin, 2014
7 4 NA F NA Diminished NA CORD Beryozkin, 2014
8 22 10 M OD: 0.1, OS:0.1 Extinguished Bilateral coloboma-like atrophic macular chorioretinal scars with RPE hyperplasia LCA Yücel-Yılmaz, 2014
9 20 8 M OD: 0.05, OS: 0.05 Extinguished Bilateral coloboma-like atrophic macular chorioretinal scars with RPE hyperplasia LCA Yücel-Yılmaz, 2014
10 18 6 M OD: 0.1, OS: 0.5 Extinguished Bilateral coloboma-like atrophic macular chorioretinal scars with RPE hyperplasia LCA Yücel-Yılmaz, 2014
11 11 5 F OD: 0.1, OS: 0.5 Extinguished Bilateral coloboma-like atrophic macular chorioretinal scars with RPE hyperplasia LCA Yücel-Yılmaz, 2014
12 5 2 M OD:HM, OS: 0.32 Extinguished Bilateral coloboma-like atrophic macular chorioretinal scars with RPE hyperplasia LCA Yücel-Yılmaz, 2014
13 30 NA M OD: 0.04, OS: 0.12 Extinguished Details in Results Late onset RD Current study

Patient No.8-12 used the logMAR vision chart (already converted), and the visual acuity chart used for the remaining patients was not mentioned in the original articles. M: Male; F: Female; OD: Right eye; OS: Left eye; NA: Not available; RPE: Retinal pigment epithelium; RP: Retinitis pigmentosa; LCA: Leber's congenital amaurosis; CORD: Cone-rod dystrophy; ERG: Electroretinogram; RD: Late-onset and asymmetric retinal degeneration; HM: Hand motion.