RCC1-like domain and ORF15: essentials in RPGR gene.

Clinical research into mutations of the RPGR gene showed that lack of either the RCC1-like domain of the ORF15 causes X-linked retinitis pigmentosa. Thus, the ORF15 and RCC1-like domain play a crucial role in the human retina. Further sudies on the role of the RCC1-like domain in the visual Cascade and additional findings of related proteins in the retina or even other organs, will give us a more precise understanding of this protein.

Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations.

Purpose: To identify mutations in RPGR and RP2 genes in a series of Japanese retinitis pigmentosa (RP) families and to determine the association between the phenotypic changes in patients/carriers and the mutations.

Methods: A total of 37 unrelated RP families were recruited, three of which were with typical X-linked RP (XLRP), and other 34 families included 29 multiplex families and 5 simplex RP cases with no family history of RP. In addition, At least one RP patient had myopia >-3.

Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.

Purpose: To describe a macrodeletion spanning entire RCC1-like doman in the RPGR gene in one Japanese family with X-linked retinitis pigmentosa (XLRP).

Methods: Clinical ophthalmologic examinations were performed and genomic DNA was extracted from blood samples. Genomic DNA was analyzed by Southern blot and PCR amplification with specific primers.

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.

Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. The BCD region of chromosome 4q35.1 was refined to an interval flanked centromerically by D4S2924 by linkage and haplotype analysis; mutations were found in the novel CYP450 family member CYP4V2 in 23 of 25 unrelated patients with BCD tested.

[A macular hole in the eye of a young patient with retinitis pigmentosa].

Purpose: To describe the histological and cytological findings in the epiretinal membrane around a macular hole.

Case: A 24-year-old male patient with retinitis pigmentosa had had night blindness since childhood. A macular hole(Stage 2) in his left eye was noted when he was 18 years old.

Retinal neurodevelopmental assessment with electroretinogram in patients with biliary atresia.

Background: To evaluate the effect of n-3 polyunsaturated fatty acid (PUFA) deficiency on the development of retinal function in children with biliary atresia (BA), we examined serum fatty acid levels and performed electororetinogram (ERG) in patients with BA.

Methods: The study group was composed of one male and four female BA patients (8-14 years) with serum bilirubin levels ranging from 0.40 to 1.