Rationale: In preparation for treatment with gene therapy, this study is being conducted in order to investigate the natural history of Inherited Retinal Dystrophies (IRDs) due to mutations in RPE65 gene. Such a study will help identify suitable patients for therapeutic intervention. Methodology: This is a multicenter retrospective, descriptive chart review study designed to assess retinal structure and function in subjects with IRDs due to mutation in RPE65 gene by visual acuity, visual field measurements, Optical Coherence Tomography (OCT), and a number of other vision-related assessments.
Study Type
OBSERVATIONAL
Enrollment
60
Ospedale di Camposampiero, ULSS6 Euganea, Camposampiero
Camposampiero, Italy
UOC Oculistica - AOU Careggi
Florence, Italy
UOC Oculistica - Ospedale Sacco
Milan, Italy
UOC Oculistica - Ospedale San Paolo
Milan, Italy
UOC Oculistica - AOU Università degli Studi della Campania Luigi Vanvitelli
Naples, Italy
Centro di Neuroftalmologia dell'età evolutiva - IRCCS Fondazione Istituto Neurologico Nazionale C. Mondino
Pavia, Italy
UOC Oculistica - Fondazione IRCCS Policlinico San Matteo
Pavia, Italy
UOC Oculistica - Ospedale Bambin Gesù di Roma
Rome, Italy
UOC Oculistica - Policlinico Gemelli di Roma
Rome, Italy
best correct visual acuity
average annual progression rate of best correct visual acuity over the retrospective follow-up period
Time frame: at least one year
visual field
average annual progression rate of visual field over the retrospective follow-up period
Time frame: at least one year
optical coherence tomography
average annual progression rate of central retinal thickness over the retrospective follow-up period
Time frame: at least one year
microperimetry
average annual progression rate of macular sensitivity assessed by microperimetry over the retrospective follow-up period
Time frame: at least one year
fundus autofluorescence
change in fundus autofluorescence over the retrospective follow-up period
Time frame: at least one year
Full-field Electroretinogram
average annual progression rate of full-field electroretinogram responses over the retrospective follow-up period
Time frame: at least one year
Multifocal Electroretinogram
average annual progression rate of multifocal electroretinogram responses over the retrospective follow-up period
Time frame: at least one year
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