Purpose: To make a clinical results of patients affected by autosomal dominant cone-rod dystrophy (adCRD). Materials and Methods: A three-generation autosomal dominant pedigree of Romani origin with non syndromic adCRD 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, fluoresce in angiography, and full-field electroretinogram (ERG). Clinical Results: In the 8 examined patients from the family we found the following symptoms: 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. Visual fields demonstrated central scotoma and tunnel vision. Electrophysiologic examination of the patients detected an abnormal cone-rod ERG (20-30V) with photopic amplitudes more markedly reduced than the scotopic. Flicker responses were missing and Farnsworth Hue-28 test found protanopie. Conclusion: We present a Bulgarian Romani family with typical clinical symptoms of (adCRD) and pigmentation in the macular area. Identification of the disease causing gene may eventually contribute to new knowledge on the pathogenesis of this condition.
