Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families
نویسندگان
چکیده
منابع مشابه
Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy
PURPOSE To report the clinical features and identification of two novel mutations in two Chinese pedigrees with autosomal dominant optic atrophy (ADOA). METHODS Two families (F1 and F2) including ten affected members and nine unaffected family individuals were examined clinically. After informed consent was obtained, peripheral blood samples of all the participants were obtained, and genomic ...
متن کاملElectrophysiological ON and OFF Responses in Autosomal Dominant Optic Atrophy.
PURPOSE To assess the effect of autosomal dominant optic atrophy (ADOA) on ON and OFF retinal ganglion cell (RGC) function by evaluating the ON and OFF components of the photopic negative response (PhNR). METHODS Twelve participants from six families with OPA1 ADOA and 16 age-matched controls were recruited. Electrophysiological assessment involved pattern ERGs (PERGs), focal (20°) and full-f...
متن کاملMitochondrial Oxidative Phosphorylation Compensation May Preserve Vision in Patients with OPA1-Linked Autosomal Dominant Optic Atrophy
Autosomal Dominant Optic Atrophy (ADOA) is the most common inherited optic atrophy where vision impairment results from specific loss of retinal ganglion cells of the optic nerve. Around 60% of ADOA cases are linked to mutations in the OPA1 gene. OPA1 is a fission-fusion protein involved in mitochondrial inner membrane remodelling. ADOA presents with marked variation in clinical phenotype and v...
متن کاملCLINICAL SCIENCE Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy
Background/aims: Patients with autosomal dominant optic atrophy (ADOA) are genetically heterogeneous, but all have disc pallor. A degree of cupping in ADOA can make the distinction from normal tension glaucoma (NTG) clinically difficult. This study aimed to clarify the features of the optic nerve of patients with ADOA at the OPA1 locus. Methods: 29 patients (58 eyes), from 12 families, were ide...
متن کاملNo evidence of genetic heterogeneity in dominant optic atrophy.
Autosomal dominant optic atrophy (OPA, MIM 165500) is an eye disease causing a variable reduction of visual acuity with an insidious onset in the first six years of life. It is associated with a central scotoma and an acquired blue-yellow dyschromatopsia. A gene for dominant optic atrophy (OPA1) has recently been mapped to chromosome 3q in three large Danish pedigrees. Here, we confirm the mapp...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2000
ISSN: 1098-3600,1530-0366
DOI: 10.1097/00125817-200009000-00003