The locus for ocular albinism type 1 (OA1) has been assigned to the Xp22.3 region through both linkage and deletion mapping. The disorder was found to be genetically homogeneous, as all informative families showed convincing linkage data with markers on Xp22.3 and all identified deletions involved in the same region. The OA1 gene recently was cloned and several intragenic deletions were identified in affected individuals. We have characterized the genomic structure of the OA1 gene, which spans approximately 40 kb of genomic DNA and contains nine exons. A highly polymorphic dinucleotide repeat was identified in intron 1, that provides a useful tool for molecular diagnosis. Knowledge of the intron/exon boundaries allowed us to search for point mutations in patients' genomic DNA. All nine exons of the OA1 gene, as well as the 5' and 3' untranslated regions, were scanned for point mutations in PCR-amplified DNA from 60 OA1 patients. The mutations identified include: two frameshifts and a splice site mutation leading to truncated OA1 proteins; a deletion of a threonine codon at position 290; and four missense mutations,two of which involve amino acids located within putative transmembrane domains. Two of the mutations each occur in three apparently unrelated families, consistent with previous observations of a founder effect in OA1. Surprisingly, mutations were detected in only one-third of the patients (21 of 60) ascertained. We postulate that mutations not yet identified in either regulatory elements of the OA1 gene, or in other gene(s) located within the same chromosomal region, may be common cause of X-linked ocular albinism.

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Background:The Pascal is a semiautomated photocoagulator that delivers a pattern array of multiple burns in a rapid predetermined sequence with a single foot pedal depression. Each burn is reduced to 10 or 20 ms to achieve this. The authors report their early experience with this system.Methods:75 procedures done in 60 patients divided into four groups—group A, patients undergoing panretinal photocoagulation (PRP); group B, patients undergoing focal or modified grid macular laser; group C, patients undergoing macular grid and group D, patients undergoing retinopexy—were retrospectively studied.Results:31/34 procedures in group A, 24/26 procedures in group B, 5/7 procedures in group C and all eight patients in group D had successful outcomes. Significantly higher powers were required with the Pascal than with conventional laser (p<0.001) in eyes that underwent PRP and focal/modified grid macular treatment with both systems. Single session PRP was successfully performed in five patients, and five were successfully treated with a macular grid using pattern arrays only. No adverse events were noted.Conclusion:Although the shorter pulse duration of the Pascal necessitates the use of a higher power, it is not associated with adverse effects. The results here suggest that the Pascal photocoagulator is safe and effective, and offer several potential advantages related to the brief exposure time.

To investigate the effects of pattern scanning laser (Pascal; OptiMedica, Santa Clara, California) multispot panretinal photocoagulation given in a singlesession (SS-PRP) vs single-spot multiple-session PRP (MS-PRP) on proliferative diabetic retinopathy (PDR). Methods: Single-center, randomized clinical trial of 40 eyes. Proliferative diabetic retinopathy was treated with a 400-µm spot size in 1500 burns given either as Pascal in 20-millisecond SS-PRP or in 3 sessions (100millisecond MS-PRP) during a 4-week period. Visual acuity, central subfield retinal thickness (CRT), and 24-2 Swedish interactive thresholding algorithm visual fields were recorded at baseline and 4 and 12 weeks. Main Outcome Measures: Central subfield retinal thickness, mean deviation, and PDR grade at 12 weeks. Results: There was a significant increase in mean CRT with MS-PRP (22 µm at 4 weeks, 95% CI, −32.25 to −10.75; 20 µm at 12 weeks, 95% CI, −28.75 to −10.82; PϽ.001) and no significant increase in the SS-PRP group. The mean deviation increased significantly in the SS-PRP group after 4 weeks (0.73 dB, P = .048), with no significant changes in either group at other points. A positive effect on PDR was observed in 74% of eyes in the SS-PRP group vs 53% in the MS-PRP group (P=.31). Mean treatment time for SS-PRP was 5.04 minutes (SD, 1.5 minutes) compared with 59.3 (SD, 12.7 minutes) in the MS-PRP group (PϽ .001). Conclusions: There were no adverse outcomes (CRT, visual acuity, or visual field) from using multispot SS-PRP vs single-spot MS-PRP at 12 weeks postlaser, and treatment times were significantly shorter for multispot SS-PRP. Pascal SS-PRP was as effective as MS-PRP in the treatment of PDR.

Multi-spot 20 ms PRP was associated with significantly lower levels of anxiety, headache, pain and photophobia compared to 100 ms single-spot PRP treatment. Possible reasons include lower fluence, shorter-pulse duration, and spatial summation of laser nociception with multi-spot Pascal technique.