AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis
Autosomal dominant vitreoretinochoroidopathy is an extremely rare disease, which belongs to the BEST1-related disease spectrum.Methods:
Report of five patients with an initial diagnosis of atypical rod–cone dystrophy, for whom autosomal dominant vitreoretinochoroidopathy was retrospectively diagnosed on genetic results using targeted next-generation sequencing. Each patient had a comprehensive ophthalmic examination including multimodal retinal imaging and functional evaluation.Results:
Visual acuity ranged from <20/800 to 20/25. Two patients had narrowed angle with history of acute angle-closure glaucoma for one patient. Full-field electroretinogram showed severe reduction of both scotopic and photopic responses for 3/5 patients. Electrooculogram could be performed for one of the two patients with moderate alterations of full-field electroretinogram. It revealed severe light rise abnormalities with decreased Arden ratio (125% right eye, 145% left eye) in keeping with generalized severe dysfunction of the retinal pigment epithelium. On fundoscopy, the pathognomonic circumferential hyperpigmented band of the peripheral retina was totally absent in two patients.Conclusion:
This report highlights the high phenotypic variability of autosomal dominant vitreoretinochoroidopathy, which may be misdiagnosed, especially in advanced forms with severe generalized photoreceptor dysfunction mimicking retinitis pigmentosa. Targeted next-generation sequencing can contribute to the proper clinical diagnosis, especially in case of atypical phenotypic features of autosomal dominant vitreoretinochoroidopathy.