[Multimodal imaging of a case of acute syphilitic posterior placoid chorioretinitis].

BACKGROUND: Acute syphilitic posterior placoid chorioretinitis (ASPPC) is a rare manifestation of ocular syphilis. We report on multimodal imaging including ophthalmoscopy, spectral-domain optical coherence tomography (SD-OCT), fluorescein angiography (FA) and indocyanine green angiography (IA) of a case diagnosed with ASPPC. CASE: A 45-year-old man who was positive for human immunodeficiency virus presented with a 2-week history of visual loss in the right eye. CLINICAL FINDINGS: Ophthalmoscopy showed a unilateral yellowish lesion involving the macula. SD-OCT revealed absence of the photoreceptor inner segment ellipsoid as well as an absent external limiting membrane, and nodular elevations of the retinal pigment epithelium layer at the macula. Late IA demonstrated punctate hypofluorescent dots in diffuse hyperfluorescent area corresponding to the macular lesion. Serologic tests were positive for syphilis and the patient was treated with intravenous penicillin G. Visual acuity improved with treatment from 20/100 to 20/16 and the retinal appearance returned to normal. There was completely restored stratification of the outer retina after therapy. CONCLUSION: In the present case of ASPPC, the SD-OCT imaging demonstrated characteristic abnormalities including RPE nodularity which showed hypofluorescent dots on late IA.

Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.

PURPOSE: To identify nucleotide sequence variations in the rhodopsin (RHO) gene of Japanese patients with retinitis pigmentosa (RP) in order to search for mutations or haplotypes responsible for RP. METHODS: The entire region of RHO locus including a promoter region and introns was sequenced using blood-derived genomic DNA samples donated by 68 patients with RP and 68 control subjects. RESULTS: We found 39 single nucleotide substitutions including 17 rare substitutions of less than 1% in frequency, one insertion/deletion polymorphism, and one CA-repeat polymorphism in a 7.8 kbp region spanning the promoter, five exons, and four introns of the RHO gene locus. There were no affected subjects with amino acid substitutions in RHO, and there was 1 control subject with a novel substitution (Ala42Thr) who had no symptoms of RP. Fine analysis of single nucleotide polymorphism (SNPs) revealed eight haplotype structures of the Japanese RHO locus. There was no significant difference between RP patients and controls in terms of haplotype frequency. CONCLUSIONS: No mutation causing an amino acid substitution of RHO was observed in 68 Japanese patients with RP, but 1 control subject did have a novel amino acid substitution. The Japanese RHO locus is comprised of eight major haplotypes. The RP-associated haplotype was not identified. The haplotype-tagging SNPs identified in this study will be useful as markers for the linkage-based screening of RP patients.