Objective To investigate whether mutations exist in codon 58 and codon 347 of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa(ADRP)． Methods Point mutations at codons 58 and 347 were detected by restriction endonuclease digestion of exons 1 and 5 amplified by polymerase chain reaction(PCR)．This method was applied to screen genomic DNAs from 57 patients of 38 families with ADRP and 60 normal controls． Results Four patients from one family of ADRP were confirmed to have a point mutation at the second nucleotide of codon 58,and 6 patients from two families of ADRP were found to have a mutation at codon 347．None of these mutations were found in 60 normal subjects． Conclusion It is suggested that molecular genetic heterogeneity exists within ADRP and some subtypes of ADRP are caused by points mutations of the rhodopsin gene． (Chin J Ocul Fundus Dis,1998,14:108-110)
PURPOSE:To study the retinal pathologic changes and pathogenesis of relinhis pigmenlosa(RP). METHODS:The relina from a patient with autosomal dominant RP was examined by light and electron microscopy. RESULTS:Degeneration and structure disturbance almost involved in every layer of retina and were accompanied hy regional differenecs:Posterior region was more than periphery one in severity. Degeneration of retinal pigment epithelium(RPE)closely eorrelaled to that of the phmoreceplor. The uhraslrneture of the retina showed extensive and severe degeneration in the photoreeeptors ,particularly ill omer segments and mitoehondrlas. Lipofusein gramdes were accumuhtted in the cytoplagm. CONClUSIONS:These changes suggested that self-energizing system and self engulfing system of the photoreceptols were disfunctloned. （Chin J Ocul Fundus Dis,1997,13: 24-26）