Table 1 Clinical Features of JBTS in Affected Family Members
Family 1 Family 2
II:5 II:1 II:4 II:5
Age (years) 5 21 12 9
Central nervous symptoms developmental delay, ataxia developmental delay, ataxia developmental delay, ataxia developmental delay, ataxia
Ocular symptoms ptosis, rod-cone dystrophy, night blindness,bilateral visual pathway involvement rod-cone dystrophy, night blindness, progressive visual loss rod-cone dystrophy, night blindness, progressive visual loss rod-cone dystrophy, night blindness, progressive visual loss, oculomotor apraxia
eGFR (mL/min/1.73 m2) NA 75 >90 >90
Renal symptoms none recurrent UTI none recurrent UTI
USS renal left multicystic dysplastic kidney, right grade I hydronephrosis bilateral renal scarring normal USS unequal kidney size
Other single palmar crease, pectus carinatum, normal ABR thermoregulation problems,episode of transverse myelitis thermoregulation problems,sleep apnea none
Abbreviations are as follows: ABR, auditory brainstem response; eGFR, estimated glomerular filtration rate; NA, not available; USS, ultrasound scan; and UTI, urinary-tract infection.