Skip to main content
Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Fig. 1

Sample recording for a given patient in the OPA1 database. a. molecular items (“Variant remarks” line removed to save space); b. screening items; c. individual items; and d. phenotype items. Abbreviations and legends of the fields are given by following the link “Legend” on the web page of each table; “SEQ”: sequencing (Sanger); “M”: male; “(France)”: reported by the laboratory in France; “OD”: oculus dexter (right eye); “OS”: oculus sinister (left eye); “0.7 LogMAR”: best corrected visual acuity 0.7 LogMAR (HP:0030560). “centrocecal”: centrocecal scotoma (HP:0000576); “RNFL two or more”: mean retinal nerve fiber layer thinning in 2 or more quadrants; “MRI”: brain MRI performed; “hemeralopia”: hemeralopia (HP:0012047); “photophobia”: photophobia (HP:0000613). Data as of October 12, 2018

Back to article page