title: Early visual symptom patterns in inherited retinal dystrophies.
abstract: The present retrospective study compared initial visual symptom patterns in inherited retinal dystrophies (IRD) on the basis of records of 544 patients diagnosed with a wide variety of IRD at the Tuebingen University Eye Hospital from 2005 to 2008. Age at first onset of symptoms was noted, and the following clinical data were analyzed: visual acuity (VA), night vision disturbances, photophobia, onset of visual field defects, best corrected VA, and types of visual field defects. Median age at visual symptom onset was defined with 25th and 75th percentiles and compared in 15 IRD types. The main trends in VA changes in retinitis pigmentosa and cone-rod dystrophies were identified. This study was the first to combine disease history and clinical data analysis in such a wide variety of IRD. It showed that patterns of initial symptoms in IRD can provide extra clues for early differential diagnosis and inclusion of IRD patients in clinical trials.
authors.affiliation: Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany. elena.prokofyeva@biomed-engineering.de
authors.forename: Elena
authors.initials: E
authors.lastname: Prokofyeva
authors.forename: Eric
authors.initials: E
authors.lastname: Troeger
authors.forename: Robert
authors.initials: R
authors.lastname: Wilke
authors.forename: Eberhart
authors.initials: E
authors.lastname: Zrenner
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics; D012189:Retrospective Studies; D014786:Vision Disorders / Q000175:diagnosis*; D014792:Visual Acuity / Q000502:physiology; D014794:Visual Fields; D055815:Young Adult