Twelve probands with autosomal recessive retinal degeneration, who were part of larger IRD cohorts from five medical centers, were enrolled in this study. Four probands were ascertained from two different medical centers in Boston, USA (Massachusetts Eye and Ear and Boston Children’s Hospital), three in the United Kingdom (Moorfields Eye Hospital), three in Portugal (Instituto de Oftalmologia Dr. Gama Pinto), and two in Israel (Hadassah-Hebrew University Medical Center, Rambam Health Care Campus).
Clinical evaluation was performed by experienced ophthalmologists according to previously published protocols and included functional and structural assessments43 (link)–46 (link).
For proband C.II-1, brain MRI was performed using a GE Signa HDxt 1.5T scanner (GE Medical Systems, Milwaukee, WI). The JBTS and control cases were scanned on a 3T scanner (Verio and Vida, Siemens Healthcare, Erlangen, Germany). Scanning protocols included unenhanced 3D T1 weighted Imaging and T2 spin-echo weighted imaging, which were sufficient to make the first diagnosis.
Clinical evaluation was performed by experienced ophthalmologists according to previously published protocols and included functional and structural assessments43 (link)–46 (link).
For proband C.II-1, brain MRI was performed using a GE Signa HDxt 1.5T scanner (GE Medical Systems, Milwaukee, WI). The JBTS and control cases were scanned on a 3T scanner (Verio and Vida, Siemens Healthcare, Erlangen, Germany). Scanning protocols included unenhanced 3D T1 weighted Imaging and T2 spin-echo weighted imaging, which were sufficient to make the first diagnosis.