1. An epidemiological approach for the estimation of disease onset in Central Europe in central and peripheral monogenic retinal dystrophies
- Author
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Eric Troeger, Elena Prokofyeva, Torsten Strasser, Gunnar Lotz, Eberhart Zrenner, Robert Wilke, Bioengineering Medical Laboratory, Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen-Institute for Ophtalmic research, Institute for Ophtalmic research, Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, Prokofyeva, Elena, and Institute for Ophthalmic Research, University of Tuebingen
- Subjects
Male ,Pediatrics ,Disease onset ,Visual acuity ,genetic structures ,Photophobia ,Epidemiology ,Usher syndrome ,Visual Acuity ,Blindness ,MESH: Visual Acuity ,Choroideremia ,MESH: Aged, 80 and over ,0302 clinical medicine ,Night Blindness ,MESH: Child ,Netzhaut , Epidemiologie ,MESH: Incidence ,Child ,10. No inequality ,MESH: Aged ,Aged, 80 and over ,0303 health sciences ,MESH: Middle Aged ,Incidence ,MESH: Infant, Newborn ,MESH: Sex Distribution ,Retinal Degeneration ,Middle Aged ,Macular dystrophy ,MESH: Infant ,Sensory Systems ,3. Good health ,Europe ,MESH: Vision Disorders ,MESH: Young Adult ,Child, Preschool ,Female ,Hereditary retinal dystrophies ,medicine.symptom ,Retinal Dystrophies ,Adult ,medicine.medical_specialty ,Adolescent ,MESH: Retinal Degeneration ,Vision Disorders ,MESH: Night Blindness ,Young Adult ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,Age Distribution ,Ophthalmology ,medicine ,Humans ,Sex Distribution ,MESH: Age Distribution ,Aged ,030304 developmental biology ,MESH: Adolescent ,Hereditary retinal dystrophies , Disease onset , Epidemiology , Frequency of the disease , Blindness , Central Europe ,MESH: Humans ,Central Europe ,business.industry ,MESH: Child, Preschool ,Infant, Newborn ,Infant ,MESH: Adult ,medicine.disease ,eye diseases ,MESH: Male ,Stargardt disease ,[SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie ,030221 ophthalmology & optometry ,[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie ,MESH: Europe ,MESH: Photophobia ,MESH: Visual Fields ,Visual Fields ,Frequency of the disease ,business ,MESH: Female - Abstract
Erratum in Graefes Arch Clin Exp Ophthalmol. 2009 Oct;247(10):1439.; International audience; PURPOSE: To study clinical patterns of disease onset in monogenic retinal dystrophies (MRD), using an epidemiological approach. METHODS: Records of patients with MRD, seen at the University Eye Hospital Tuebingen from 1994 to 1999, were selected from a database and retrospectively reviewed. For analysis, patients were divided into 2 groups by predominant part of visual field (VF) involvement: group 1 (predominantly central involvement) included Stargardt disease (ST), macular dystrophy (MD), and central areolar choroidal dystrophy (CACD), and group 2 (predominantly peripheral involvement) included Bardet-Biedl syndrome (BBD), Usher syndrome (USH) I and II, and choroideremia (CHD). Age, sex, age of first diagnosis, age of visual acuity (VA) decrease and VF emergence, night blindness and photophobia onset, types of VF defects and age of its onset, color discrimination defects and best corrected VA were analyzed. RESULTS: Records of 259 patients were studied. Men were more prevalent than women. Mean age of the patients was 47.2 (SD = 15.6) years old. Forty-five patients in the first group and 40 in the second were first diagnosed between 21 and 30 years of age. Ninety-four patients in the first group had VA decrease before 30 years of age; in the second group, 68 patients had VA decrease onset between 21 and 40 years of age. Forty-four patients in the first group noticed VF at an age between 21 and 30 years, and 74 patients between 11 and 30 years in the second group. Central scotoma was typical for the first group, and was detected in 115 patients. Concentric constriction was typical for the second group, and was found in 81 patients. Half of patients in both groups preserved best-corrected VA in the better eye at a level of 20/40 or better; 7% in the first group and 6% in the second group were registered as legally blind according to WHO criteria, having VA
- Published
- 2009
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