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10.3109/13816810.2014.907920 http://scihub22266oqcxt.onion/10.3109/13816810.2014.907920 C4232478!4232478!24766090     free     free     free Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Ophthalmic+Genet 2016 ; 37 (1): 89-94 Nephropedia Template TP {{tp|p=24766090|t=2016. Ocular findings in patients with the Hermansky-Pudlak syndrome (types 1 and 3) |pdf=|usr=}}{{24766090}} gab.com Text Ocular findings in patients with the Hermansky-Pudlak syndrome (types 1 and 3) JO: Ophthalmic Genet http://www.kidney.de/pget.php?&tw=1&pmid=24766090 #FOAvip Purpose: To describe and compare ocular findings in patients with Hermansky-Pudlak syndrome (HPS) type 1 and 3. Methods: This is a retrospective case series of 64 patients with HPS from 1999 to 2009 evaluated at an outpatient private ophthalmologic clinic. Patients underwent genetic analysis of selected albinism (Tyrosine and P gene) and HPS genes (HPS-1 and HPS-3) by screening for common mutations and exon sequencing with DNA screening. Descriptive and a non-parametric statistical analysis were done. Results: Nearly 70% of the patients were homozygous for common Puerto Rican mutations leading to the HPS1 gene (16-BP DUP, 53.6%), while 30% had the 3904-BP DEL HPS3 gene mutation.BCVA was poorer in patients with type 1 HPS than in patients with type 3 HPS (p<0.001), esotropia was more common among type 1 HPS (p<0.018), while exotropia was more common among patients with type 3 HPS. Total iris transillumination was more common in patients with type 1 HPS and minimal iris transillumination in patients with type 3 HPS (p<0.001). The maculae were translucent in patients with type 1 HPS, while patients with type 3 HPS had opaque maculae (p<0.001). Conclusions: Patients with type 1 HPS had poorer BCVA, increase incidence of esotropia, lighter iris and macular appearance. In contrast, patients with type 3 HPS 3 had more exotropia. In addition, to our knowledge this is the largest series type 3 HPS ever reported. Twit Text FOAVip Ocular findings in patients with the Hermansky-Pudlak syndrome (types 1 and 3) ????Ophthalmic Genet http://www.kidney.de/pget.php?&tw=1&pmid=24766090 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24766090 #FOAvip English Wikipedia <ref>{{Cite pmid|24766090}}</ref> Ocular findings in patients with the Hermansky-Pudlak syndrome (types 1 and 3) #MMPMID24766090 Jardón J; Izquierdo NJ; Renta JY; García-Rodríguez O; Cadilla CL Ophthalmic Genet 2016[Mar]; 37 (1): 89-94 PMID24766090show ga Purpose: To describe and compare ocular findings in patients with Hermansky-Pudlak syndrome (HPS) type 1 and 3. Methods: This is a retrospective case series of 64 patients with HPS from 1999 to 2009 evaluated at an outpatient private ophthalmologic clinic. Patients underwent genetic analysis of selected albinism (Tyrosine and P gene) and HPS genes (HPS-1 and HPS-3) by screening for common mutations and exon sequencing with DNA screening. Descriptive and a non-parametric statistical analysis were done. Results: Nearly 70% of the patients were homozygous for common Puerto Rican mutations leading to the HPS1 gene (16-BP DUP, 53.6%), while 30% had the 3904-BP DEL HPS3 gene mutation.BCVA was poorer in patients with type 1 HPS than in patients with type 3 HPS (p<0.001), esotropia was more common among type 1 HPS (p<0.018), while exotropia was more common among patients with type 3 HPS. Total iris transillumination was more common in patients with type 1 HPS and minimal iris transillumination in patients with type 3 HPS (p<0.001). The maculae were translucent in patients with type 1 HPS, while patients with type 3 HPS had opaque maculae (p<0.001). Conclusions: Patients with type 1 HPS had poorer BCVA, increase incidence of esotropia, lighter iris and macular appearance. In contrast, patients with type 3 HPS 3 had more exotropia. In addition, to our knowledge this is the largest series type 3 HPS ever reported. äOcular findings in patients with the Hermansky-Pudlak syndrome (types (epmc).pdf DeepDyve Pubget Overpricing