4 Fanen P, Ghanem N, Vidaud M, et al. Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 1992;13:770-6. 5 Ferec C, Audrezet MP, Mercier B, et al. Detection of over 98% cystic fibrosis mutations in a Celtic population. Nat Genet 1992;1: ...

Retinal degeneration arises from the loss of photoreceptors or retinal pigment epithelium (RPE). It is one of the leading causes of irreversible blindness worldwide with limited effective treatment options. Generation of induced pluripotent stem cell (IPSC)-derived retinal cells and tissues from individuals with retinal degeneration is a rapidly evolving technology that holds a great potential ...

We present a case of adult-onset foveomacular vitelliform dystrophy (AFMVD) in a 62-year-old man. Fundus examination revealed subretinal depositions of yellowish material within themacula. During the 4-year follow-up period, the best corrected visual acuity (BCVA) in the right eye did not change; the BCVA in the left eye gradually deteriorated from 0.5 to 0.08. Ophthalmoscopic findings showed n...

Bestrophin-1 (Best-1) is an integral membrane protein, defects in which cause Best vitelliform macular dystrophy. Best-1 is proposed to function as a Cl- channel and/or a regulator of Ca++ channels. A tetrameric (or pentameric) stoichiometry has been reported for recombinant best-1. Using a combination of gel exclusion chromatography and velocity sedimentation we examined the quaternary structu...