Clinical findings in a Roma family with autosomal dominant cone‐rod dystrophy

Abstract

AbstractPurpose To make a clinical assessment of patients affected by autosomal dominant cone‐rod dystrophy (adCORD).Methods A three‐generation autosomal dominant pedigree of Romani origin with non syndromic CORD was identified. Eight affected and 14 unaffected individuals were clinically ascertained. All affected relatives were studied. Clinical evaluation included best corrected visual acuity determination, funduscopy, Humphrey perimetry, Farnsworth Hue‐28 color testing, fluorescein angiography, and full‐field electroretinogram (ERG).Results All affected individuals presented reduced visual acuity (0.01 ‐ 0.4) and photophobia with slightly variable but early age of onset (around 13 years of age). Funduscopic examination and fluorescein angiography revealed advanced changes including bone spicule‐like pigment deposits in the midperiphery and macular area along with retinal atrophy, narrowing of the vessels, and waxy optic discs. Visual fields demonstrated central scotoma. Electrophysiologic examination of the patients detected an abnormal cone‐rod ERG (20‐30μV) with photopic amplitudes more markedly reduced than the scotopic. Flicker responses were missing and Farnsworth Hue‐28 test found protanopia.Conclusion In this study we report a family of Gypsy origin affected by autosomal dominant cone‐rod dystrophy. Identification of the disease causing gene may eventually contribute to new knowledge on the pathogenesis of this condition.