Objective To detect characteristics and the pathogenesis of rhodopsin (RHO) gene mutation in an inbreeding family with autosomal recessive retinitis pigmentosa (ARRP). Methods Peripheral venous blood 5-8 ml was abstracted from 8 members in the inbreeding ARRP family and 10 control individuals. DNA gene group was picked. Extron 1-5 of RHO gene was amplified by polymerase chain reaction (PCR)，and the mutation of RHO gene was screened by direct DNA sequence measurement. Results The Gln-344-Arg mutation in the RHO gene was detected in 3 patients with ARRP and homozygotes of the mutation in 3 patients were found. Heterozygous of the mutation was detected in the parent of patients and 1 healthy family member. No mutation of RHO gene was found in 2 healthy family members and 10 control individuals. Conclusions The Gln-344-Arg mutation in the RHO gene may be the pathogenic factor of the ARRP family; the frequency of the mutation of RHO gene may increase in the in breeding ARRP family.(Chin J Ocul Fundus Dis，2004，20：145-148)
ObjectiveTo observe the changes of circumpapillary retinal nerve fiber layer (CP-RNFL) thickness and optic disk parameters in retinitis pigmentosa (RP) eyes. MethodsProspective clinical case-control study. A total of 25 patients (42 eyes) with RP were in the RP group, and 42 age matched healthy subjects (84 eyes) in the control group. All subjects underwent optical coherence tomography (OCT) examination, in which 37 eyes with 3D optic disk scanning and 5 eyes with circle optic disk scanning. The parameters included average thickness of entire CP-RNFL, thickness of nasal, superior, temporal and inferior quadrant of CP-RNFL, disc area, disc cup area, rim area, cup/disc (C/D) area ratio, C/D horizontal diameter ratio, C/D vertical diameter ratio, disc cup volume and disc rim volume. ResultsThe average thickness and the thickness of temporal and nasal quadrants of CP-RNFL in RP group were significantly thicker than the control group (t=2.27, 3.73, 6.44; P=0.027, 0.00, 0.00), while the thickness of inferior and superior areas were the same as control group(t=-1.49, -1.19; P=0.14, 0.24). The disc area, disc cup area, C/D area ratio, C/D horizontal diameter ratio, C/D vertical diameter ratio, disc cup volume in RP group were significantly bigger than control group (P < 0.05), while rim area and rim volume were not significant differences (t=1.75, 0.40; P=0.08, 0.59). ConclusionIn comparison with the healthy subjects, the average thickness and temporal and nasal areas of CP-RNFL in RP eyes were thicker, and the disc area, disc cup area, C/D area ratio, C/D horizontal diameter ratio, C/D vertical diameter ratio, disc cup volume in RP eyes were bigger.
Objective To evaluate the therapeutic effect of vitrectomy on bullous retinal detachment. Methods The clinical data of 7 patients (9 eyes) with bullous retinal detachment who had undergone vitrectomy due to useless photocoagulation were retrospectively analyzed. Bullous retinal detachment of the patients had been diagnosed by examination of slit-lamp microscope, three-mirror gonioscope, indirect ophthalmoscope, B-mode ultrasound, and fundus fluorescein angiography. All of the affected eyes underwent vitrectomy with closed triple incisions through the pars plana after release of subretinal liquid under the local anaesthesia. The cortex of vitreous body was taken out, and exsuction of subretinal liquid was carried out via retinal incision. Photocoagulation closed the incision and the effusion area of the retina, and intraocular filling matter was injected after exchange of air and liquid. The follow-up period lasted 3 months to 8 years with the average period of 47 months. Results Reattached retina was found in all of the affected eyes during the follow-up period. One eye underwent a second vitrectomy due to local retinal redetachment caused by a new retinal hole formed by the pull of pre-retinal proliferative membrane and a silicon vesicle entered the subretinal space, but the retina reattached after 1-year follow-up examination. The visual acuity impr oved in different degree after the operation in 8 eyes, but remained unchanged in 1 eye. Conclusion Vitrectomy for terminal bullous retinal detachment may promote the reattachment of retina safely and effectively, and save partial visual acuity of the affected eyes. (Chin J Ocul Fundus Dis, 2006, 22:299-301)