title: Intra-familial Similarity of Wide-Field Fundus Autofluorescence in Inherited Retinal Dystrophy.
abstract: To examine the similarity of wide-field fundus autofluorescence (FAF) imaging in inherited retinal dystrophy between siblings and between parents and their children. The subjects included 17 siblings (12 with retinitis pigmentosa and 5 with cone rod dystrophy) and 10 parent-child pairs (8 with retinitis pigmentosa and 2 with cone rod dystrophy). We quantified the similarity of wide-field FAF using image processing techniques of cropping, binarization, superimposition, and subtraction. The estimated similarity of the siblings was compared with that of the parent-child pairs and that of the age-matched unrelated patients. The similarity between siblings was significantly higher that of parent-child pairs or that of age-matched unrelated patients (P = 0.004 and P = 0.049, respectively). Wide-field FAF images were similar between siblings with inherited retinal dystrophy but different between parent-child pairs. This suggests that aging is a confounding factor in genotype-phenotype correlation studies.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawaharacho, Sakyo, 606-8507, Kyoto, Japan. yukaf@kuhp.kyoto-u.ac.jp.
authors.forename: Yuka
authors.initials: Y
authors.lastname: Furutani
authors.affiliation: Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawaharacho, Sakyo, 606-8507, Kyoto, Japan. kenboo@kuhp.kyoto-u.ac.jp.
authors.forename: Ken
authors.initials: K
authors.lastname: Ogino
authors.affiliation: Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawaharacho, Sakyo, 606-8507, Kyoto, Japan. aquio@kuhp.kyoto-u.ac.jp.
authors.forename: Akio
authors.initials: A
authors.lastname: Oishi
authors.affiliation: Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawaharacho, Sakyo, 606-8507, Kyoto, Japan. eyegotoh@kuhp.kyoto-u.ac.jp.
authors.forename: Norimoto
authors.initials: N
authors.lastname: Gotoh
authors.affiliation: Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawaharacho, Sakyo, 606-8507, Kyoto, Japan. yukimaki@kuhp.kyoto-u.ac.jp.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Makiyama
authors.affiliation: Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawaharacho, Sakyo, 606-8507, Kyoto, Japan. mah0ham@kuhp.kyoto-u.ac.jp.
authors.forename: Maho
authors.initials: M
authors.lastname: Oishi
authors.affiliation: Department of Ophthalmology, Kyoto Katsura Hospital, Kyoto, Japan. mkurimoto@dream.com.
authors.forename: Masafumi
authors.initials: M
authors.lastname: Kurimoto
authors.affiliation: Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawaharacho, Sakyo, 606-8507, Kyoto, Japan. nagaeye@kuhp.kyoto-u.ac.jp.
authors.forename: Nagahisa
authors.initials: N
authors.lastname: Yoshimura
mesh_terms: D000367:Age Factors; D005192:Family Health; D005453:Fluorescence; D005654:Fundus Oculi; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008062:Lipofuscin / Q000737:chemistry* / Q000378:metabolism; D018613:Microscopy, Confocal; D009887:Ophthalmoscopy; D010641:Phenotype; D058499:Retinal Dystrophies / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D055213:Retinal Pigment Epithelium / Q000737:chemistry / Q000378:metabolism / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D035781:Siblings; D041623:Tomography, Optical Coherence
chemical_list: D008062:Lipofuscin
keywords: Cone rod dystrophy; Inherited retinal dystrophy; Retinitis pigmentosa; Similarity; Wide-field fundus autofluorescence