PMC

Assignment of the locus for CACD to chromosomal region 14q12-q22.1. Relative order of genotyped microsatellite markers are shown at the bottom next to an ideogram of chromosome 14. Results from multipoint linkage analysis and genetic locations for the markers genotyped are shown below.

Pedigree of family CL and haplotype reconstruction for the mapped region on chromosome 14. Filled and open symbols represent affected and unaffected members, respectively. The proband is indicated by the black arrow. Haplotypes for tested microsatellite markers in the mapped region and those flanking it are given for all participants. Black bars represent the ancestral haplotype associated with the disease. *Individuals from whom blood samples were collected. The mapped region flanked by markers D14S972 and D14S139 was shared by all patients and was absent in all unaffected members.

Fundus photos and SD-OCT images suggest ONH anomalies in patients from family CL. (A) Fundus photos of 11 affected individuals (II:1, II:3, III:1, III:4, III:5, III:8, III:11, IV:2, IV:3, IV:4, and IV:5) revealed pale-appeared ONH, enlarged excavation with poor defined optic disc rim, and several cilioretinal vessels emanated from the edge of the vacant optic disc. No central retinal artery/vein trunk was observed. ONH of the unaffected member IV:1 was shown as control. OD, right eye; OS, left eye. (B) SD-OCT of six affected members (II:3, III:1, III:8, III:11, IV:3, and IV:4) showed steep cupping with glial tissue (indicated by asterisk). Green arrowed lines denote scanned axis by SD-OCT.

Fundus photos and SD-OCT images show retinoschisis and retinal/choroidal atrophy in six patients from family CL. (A) Fundus of patient II:3 presented retinal artery distortion, irregular RPE depigmentation and choroidal atrophy in both eyes. SD-OCT showed peripapillary retinoschisis in right eye, and retinoschisis extended to maculae and inferior temporal quadrant in left eye. (B) Fundus photo showed retinoschisis in both eyes of patient III:1 extended beyond the posterior pole. SD-OCT revealed bilateral peripapillary retinoschisis and cystic degeneration in the macular region with vitreomacular traction. (C) SD-OCT of patient III:8 revealed bilateral peripapillary retinoschisis and typical retinoschisis between inner nuclear layer (INL) and outer nuclear layer (ONL) with fovea involved in right eye, and close to fovea in left eye. (D) Funduscopy of patient III:11, who presented nystagmus, showed peripapillary retinoschisis, retinal artery distortion, and leopard-like choroidal atrophy in both eyes, and retinoschisis extended beyond posterior pole in left eye. SD-OCT showed epi-macular membrane in right eye, and typical retinoschisis within ganglial cells involving fovea in left eye. (E) The fundus of patient IV:3 demonstrated coloboma surrounding abnormal ONH and diffused leopard-like choroidal atrophy in both eyes. SD-OCT showed maculoschisis between INL and ONL in left eye and bilateral retinal atrophy. (F) Fundus photos and SD-OCT images of patient IV:4 revealed severe retinal degeneration with epi-macular membrane and vitreomacular traction in right eye, and typical retinoschisis within INL in left eye. Green arrowed lines denote scanned axis by SD-OCT. OD, right eye; OS, left eye.