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Natural History of CNGA1-Associated Retinitis Pigmentosa in a Large Chinese Cohort Revealing an Optimal Intervention
Yue Liu1, Dingding Zhang2, Yunyu Zhou3
1From the Department of Ophthalmology (Y.L., Y.Z., Y.L., X.H., Z.S., X.W., H.L., X.Z., R.S.), Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China; Department of Ophthalmology (Y.L.), The Affiliated Hospital of Guizhou Medical University, Guizhou Medical University, Guiyang, Guizhou, China.
Purpose:
To detail the natural history, clinical manifestations, and molecular characteristics of a large Chinese cohort of patients with CNGA1-associated retinitis pigmentosa (CNGA1-RP).
Design:
Single-center, retrospective case series.
Participants:
A total of 58 Chinese patients with CNGA1-RP from 52 families were enrolled between 2011 and 2025.
Methods:
Longitudinal data were available for 20 individuals, with the longest follow-up of 11 years. All participants underwent comprehensive clinical evaluations and genetic analysis. The impact of age on best-corrected visual acuity (BCVA) and visual field (VF) was evaluated using restricted cubic spline (RCS) analysis. Retinal multimodal imaging was acquired, including optical coherence tomography (OCT), ultra-widefield (UWF) scanning laser ophthalmoscope (SLO) and UWF fundus autofluorescence (FAF). Moreover, electroretinogram (ERG) was performed.
Main Outcome Measures:
Clinical symptoms, age-related changes in BCVA and VF, retinal multimodal imaging features, molecular characteristics.
Results:
Night blindness was the universal initial symptom, with most patients (88%) experiencing onset during childhood. BCVA remained stable (0.09 logMAR) until age of 30.7 years, followed by a progressive decline at 0.029 logMAR per year; by age of 72 years, 32% of patients had developed blindness (BCVA > 1.30 logMAR). VF impairment began in childhood and progressed to tunnel vision (VF ≤ 10°) at a median age of 39.4 years. A high degree of interocular symmetry was observed for both BCVA and VF. FAF imaging revealed a macular hyper-autofluorescent (hyperAF) ring in 73% of patients. Genetic analysis identified 14 novel pathogenic variants in CNGA1, and c.265delC was confirmed as a hotspot variant with an allele frequency of 72% in the Chinese population. Furthermore, homozygous carriers of this hotspot variant exhibited more severe phenotypes.
Conclusions:
Our study characterized the natural history of CNGA1-RP and identified c.265delC as a hotspot variant in the Chinese population. Based on the quantitative data, VA loss in CNGA1-RP is late-onset and slow-progressing, whereas VF loss occurs earlier and more severely. The optimal window of intervention for CNGA1-RP in the Chinese population appears to be between the 3rd and 4th decade of life.
