Table 2 of Brézin, Mol Vis 2011; 17:1669-1678. Table 2 of Brézin, Mol Vis 2011; 17:1669-1678.
Table 2. Summary of clinical characteristics of patients with the intron 7 splice acceptor mutation of the CSPG2 gene (c.4004–2A>T)
| Patient | Age | Visual acuity | Main clinical findings |
|---|---|---|---|
| II.1 and III.2 | Reported to be blind at an early age, secondary to RDs | ||
| III.4* | 82 | NLP / NLP | OD: RD, Prosthesis OS: Aphakic, glaucoma, retinis pigmentosa-like fundus |
| IV.2 | 64 | NLP / LP in 1 quadrant | OD: Aphakic, phtisis bulba, RD at age 33, retinis pigmentosa-like fundus, vitreous veils OS: RD at age 11, Prosthesis |
| IV.4 | 63 | NLP / NLP | OD: RD at age 3, Prosthesis OS: Aphakic, phtisis bulba |
| IV.6 | 60 | 0.2 / NLP | OD:Pseudophakic OS: Cataract, glaucoma (2 trabeculectomies), prosthesis Chorioretinal atrophy, pigment clumping, vitreous strands |
| IV.7 | 57 | 0.5 / NLP | OD: Aphakic OS: RD at age 7, phtisis bulba, diffuse band keratopathy, nasally stretched retinal vessels, temporal pigmented lesions |
| IV.8 | 46 | HM / 0.5 | OU: Pseudophakic Chorioretinal atrophy, diffuse pigment clumping |
| IV.9 | 46 | NLP / 0.6 | OD: RD at age 7, prosthesis OS: Pseudophakic peripheral cryotherapy and laser scars |
| V.2 | 31 | 0.4 / 0.25 | OD: Pseudophakic, RD at age 13 OS: vitreoretinal exudative manifestations, RD at age 9 OU: Nasally stretched retinal vessels, pigment clumping, ectopic faveae, no vitreous strands |
| V.5 | 29 | 0.6/0.4 | OU: Repetitive anterior uveitis with synechiae Retinal vascular abnormalities, peripheral exudates in temporal retina, pigment clumping, vitreous fold parallel to the ora |
| V.6 | 36 | 0.6/NLP | OS: Aphakic, RD at age 6, chorioretinal atrophy, pseudo-retinis pigmentosa OD: Pigment clumping, retinal atrophy in the peripapillary area and along the temporal vascular arcades, no vitreous strands |