Visual acuities in patients with autosomal recessive retinitis pigmentosa associated with four rod phototransduction genes
By
Vishanna Balbirsingh
Shaima A. Hashem
Michalis Georgiou
Siying Lin
Gavin Arno
Mariya Moosajee
Andrew R. Webster
Michel Michaelides
Omar A. Mahroo
May 22, 2026
Clinical Scorecard: Visual Acuity Outcomes in Individuals with Autosomal Recessive Retinitis Pigmentosa Linked to Four Rod Phototransduction Genes
At a Glance
Category Detail
Condition Autosomal Recessive Retinitis Pigmentosa (ARRP) Key Mechanisms Variants in rod phototransduction genes affecting rod phosphodiesterase and cyclic nucleotide-gated channels. Target Population Individuals with ARRP associated with PDE6A, PDE6B, CNGA1, and CNGB1 gene variants. Care Setting Inherited retinal disease service at Moorfields Eye Hospital.
Key Highlights
Early onset nyctalopia is a hallmark of ARRP due to rod phototransduction impairment. Mean logMAR visual acuities at first visit were 0.10 for CNGA1, 0.34 for CNGB1, 0.45 for PDE6A, and 0.56 for PDE6B. CNG-associated disease showed better average visual acuity compared to PDE-associated disease. Significant differences in visual acuity were observed between specific gene variants. Guideline-Based Recommendations
Diagnosis
Identify bi-allelic pathogenic variants in rod phototransduction genes. Management
Monitor visual acuity and consider potential therapeutic interventions. Monitoring & Follow-up
Regular assessments of visual acuity and potential progression of retinal degeneration. Risks
Higher intracellular calcium levels may predispose to faster degeneration in PDE-associated variants. Patient & Prescribing Data
113 patients with ARRP linked to four specific genes.
Differences in visual acuity suggest varying disease progression rates based on genetic variants.
Clinical Best Practices
Conduct age-adjusted comparisons of visual acuity among different gene variants. Consider the implications of intracellular calcium levels in disease progression. Related Resources & Content
