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S.J. Bass, K.G. Noble, J. Sherman; Autosomal Dominant Pericentral Retino Choroidal Atrophy (ADPRA): A New Clinical Entity . Invest. Ophthalmol. Vis. Sci. 2003;44(13):513.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To describe a family with varying phenotypic presentation of pericentral retinochoroidal atrophy. Methods: The asymptomatic propositus was noted on routine examination to have an arcuate-shaped area of choroidal atrophy inferior to the macula in both eyes. The central visual acuity was normal. Subsequently, four other family members were examined and records of the deceased father were obtained. Diagnostic tests included visual fields (VF), fluorescein angiography (FA), electroretinography (ERG) and evaluation with the Retinal Thickness Analyzer (RTA). Results: A total of five members in three successive generations with primarily male to male transmission were found to have varying degrees of retinal and choroidal atrophy in an arcuate fashion either partially or completely surrounding the macula. Three demonstrated arcuate areas of atrophy below the macula while two demonstrated a complete ring of atrophy surrounding the macula. All affected individuals had normal or nearly normal central visual acuity and all had absolute field loss corresponding to the atrophic areas. FA demonstrated hypofluorescence with visualization of the larger choroidal vessels in the areas of choroidal atrophy and hyperfluorescence surrounding the macula in areas of retinal atrophy. The maculae of all individuals were angiographically normal. . The younger members demonstrated primarily retinal atrophy while the older members demonstrated retinochoroidal atrophy in the affected areas. Scotopic and photopic ERGs were normal in the propositus and his son. Scotopic and photopic ERGs were reduced by 50% in the brother of the propositus, with the greatest degree of atrophy. Scotopic ERGs in his daughter were reduced by 30% despite minimal retinal atrophy but her photopic ERGs were normal. The RTA demonstrated a circinate ring of retinal atrophy in the propositus and in two of the younger family members. Conclusions: We have identified a family with a previously undescribed retinal condition characterized by either arcuate or circinate rings of retinochoroidal atrophy, unaffected maculae, corresponding field loss and autosomal dominant inheritance. Other family members will be studied, this family will be followed for progression and blood testing will be undertaken to detect any genetic similarities with other previously described related retinochoroidal atrophic diseases.
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