Patient-Reported Social Impact of Molecularly Confirmed Macular Dystrophies and Cone-Rod Dystrophies.

ABSTRACT: Objectives: To identify patient-reported key disease-related challenges of macular and cone-rod dystrophies (MDs/CRDs) in a large consecutive cohort of individuals with molecularly confirmed diagnoses. Methods: Out of the 281 patients contacted, 194 (69.0%; 55.2% female) responded to an anonymized survey exploring the effects of MD/CRD on vocational training, professional careers, social participation, family life, personal well-being, and experience with ophthalmologic care. Results: While vocational training was generally less affected, professional careers were frequently disrupted, with 20.6% of patients aged ≥ 50 retiring early. A majority (54.7%) reported feeling restricted in public life. Financial constraints were noted by 20%. A negative impact on familial lif

SUBMITTER: Zehe-Lindau N 

PROVIDER: S-EPMC12653736 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature