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Longitudinal Clinical Follow-up and Genetic Spectrum of Patients with Rod-Cone Dystrophy associated

with mutations in PDE6A and PDE6B

Samer Khateb, MD, PhD | Marco Nassisi, MD | Kinga M. Bujakowska, PhD | Cécile Méjécase, MSc | Christel Condroyer, MSc | Aline Antonio, BA | Marine Foussard, BA | Vanessa Démontant, BA | Saddek Mohand-Saïd, MD, PhD | José-Alain Sahel, MD | Christina Zeitz, PhD | Isabelle Audo, MD, PhD | JAMA Ophthalmol | 2019 Apr 18 | 137(6) | 669-679 | doi:10.1001/jamaophthalmol.2018.6367

Key Points

Question What are the functional and structural changes over time of patients with rod-cone dystrophy harboring mutations in PDE6A and PDE6B?

Findings In this cohort, longitudinal, follow-up study of 54 patients with rod-cone dystrophy and mutations in PDE6A or PDE6B, progressive photoreceptor degeneration was documented. The findings reveal a similar disease course between both genetic groups with preservation of functional visual abilities at older ages.

Meaning The results of this study suggest that these functional and structural findings may enable a better prognostic estimation and candidate selection for photoreceptor therapeutic rescue.


Importance A precise phenotypic characterization of retinal dystrophies is needed for disease modeling as a basis for future therapeutic interventions.

Objective To compare genotype, phenotype, and structural changes in patients with rod-cone dystrophy (RCD) associated with mutations in PDE6A or PDE6B.


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