Clinical and molecular features of PRCD ‐associated retinopathy

Vasil Kostin; Karolina Kamińska; Marco Cattaneo; Enrico Ambrosini; Carmen Ayuso; Almudena Ávila‐Fernández; Béatrice Bocquet; Luísa Coutinho-Santos; Benedetto Falsini; Lidia Fernandez‐Caballero Palomeque; Bohdan Kousal; Petra Lišková; Inmaculada Martín-Mérida; María Juliana Ballesta‐Martínez; Daan Panneman; Susanne Roosing; I. Meunier; José M. Millán; Monika Pankievic; Irene Perea‐Romero; Virginie Peter; Giorgio Placidi; Cristina Santos; Francesca Simonelli; Ana Berta Sousa; Francesco Testa; Marie Vajter; Marianna E. Weener; Mathieu Quinodoz; Carlo Rivolta; Giacomo Calzetti

doi:10.1111/aos.70220

Key Points

To describe the clinical and genetic characteristics and quantify the rate of visual decline in patients harboring biallelic disease-causing variants in the PRCD gene.
Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Visual progression was evaluated with linear mixed models on log-converted best-corrected visual acuity (BCVA) and kinetic visual field (VF) data, alongside optical coherence tomography and fundus autofluorescence (FAF).
Genetic variants were identified using Sanger sequencing, targeted gene panels, whole-exome sequencing, or whole-genome sequencing.
Median age of symptom onset was 11 years with nyctalopia as the primary complaint; mean ages at low vision and legal blindness were 35 and 38 years, respectively.
BCVA declined at 0.046 logMAR/year (95% CI: 0.027–0.065; p < 0.001), representing a 10.0% annual loss, while VF area decreased by 19.4% annually.
Five distinct loss-of-function variants were identified (two nonsense, two splice-site, and one whole-gene deletion), with retinal imaging showing progression from early hyperautofluorescent arcs to widespread chorioretinal atrophy.

Implication

Multicenter cohort study demonstrates early onset and rapid vision loss in patients with biallelic PRCD mutations, highlighting key parameters for clinical trial design.

Discussion

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Cite This Study

Kostin et al. (2026) studied this question.

synapsesocial.com/papers/6a8019ce75c2e31742c85fa4 https://doi.org/10.1111/aos.70220

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Clinical and molecular features of PRCD ‐associated retinopathy

Key Points

Implication

Discussion

Cite This Study

Clinical and molecular features of PRCD ‐associated retinopathy

Key Points

Implication

Discussion

Cite This Study

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