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PCARE-Associated Retinopathy - Genetics, Clinical Characteristics, and Natural History
Lorenzo Bianco1,2,3, Alessio Antropoli1,2,3, Amine Benadji2
1Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
Investigative Ophthalmology & Visual Science
|April 22, 2025
Summary
PCARE-associated retinopathy causes severe vision loss due to photoreceptor degeneration. Early intervention before age 50 is crucial, as foveal sparing helps retain central vision into adulthood.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Inherited retinal diseases (IRDs) represent a significant cause of visual impairment.
- Understanding the genetic basis and clinical progression of IRDs is crucial for developing targeted therapies.
- PCARE variants are implicated in a specific form of inherited retinopathy.
Purpose of the Study:
- To elucidate the mutational landscape of PCARE-associated retinopathy.
- To describe the clinical characteristics and natural history of this condition.
- To identify potential therapeutic windows based on disease progression.
Main Methods:
- Retrospective cohort study of 28 patients with PCARE variants.
- Assessment of best-corrected visual acuity (BCVA), kinetic visual field (KVF) area, macular atrophy (MA), total macular volume (TMV), and foveal sparing (FS).
- Longitudinal analysis of disease progression over a median follow-up of 5.7 years.
Main Results:
- PCARE-associated retinopathy presents as severe generalized photoreceptor dystrophy with MA in all patients.
- Loss of foveal sparing (median age 45) correlated with significant BCVA decline.
- Significant longitudinal declines observed in BCVA, KVF area, and TMV, with expansion of DDAF lesions.
Conclusions:
- PCARE-associated retinopathy is a severe photoreceptor dystrophy characterized by MA.
- Foveal sparing preserves central vision into late adulthood, despite early visual field loss.
- The optimal window for therapeutic intervention appears to be before the fifth decade of life.
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