Exploring Concomitant Ophthalmic Comorbidities in Portuguese Patients with Inherited Retinal Diseases: A...

Area of Science:

• Ophthalmology
• Genetics
• Rare Diseases

Background:

• Inherited retinal diseases (IRDs) cause progressive photoreceptor degeneration, leading to vision loss.
• Understanding ophthalmic comorbidities in IRDs is crucial for patient management.
• Prevalence and types of comorbidities vary significantly among IRD subtypes.

Purpose of the Study:

• To determine the prevalence, types, and clinical significance of ophthalmic comorbidities in Portuguese patients with IRDs.
• To identify associations between specific IRD genes/types and particular comorbidities.
• To leverage the IRD-PT registry for comprehensive data collection.

Main Methods:

• Nationwide, population-based, retrospective study using the IRD-PT registry.
• Inclusion of 1531 patients from six Portuguese centers.
• Statistical analysis using Microsoft Excel and IBM SPSS Statistics.

Main Results:

• Ocular comorbidities were present in 42.1% of patients; 11.5% had multiple comorbidities.
• Cataract (21.3%), amblyopia (6.3%), and high myopia (5.9%) were most frequent.
• Significant associations found between specific genes (e.g., CRB1, EYS, PROM1, USH2A) and comorbidities (e.g., ERM, cataract, CNV, macular hole).

Conclusions:

• Cataract, refractive errors, and cystoid macular edema are common comorbidities in Portuguese IRD patients.
• Stationary IRDs and pattern dystrophies exhibit fewer comorbidities, aligning with their non-progressive classification.
• Disease registries are vital for documenting IRD characteristics and monitoring progression.