PubMed:24766090
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/24766090","sourcedb":"PubMed","sourceid":"24766090","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/24766090","text":"Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).\nPURPOSE: To describe and compare ocular findings in patients with Hermansky-Pudlak syndrome (HPS) type 1 and 3.\nMETHODS: 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 non-parametric statistical analyses were carried out.\nRESULTS: 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. Best corrected visual acuity (BCVA) was poorer in patients with type 1 HPS than in patients with type 3 HPS (p \u003c 0.001), esotropia was more common among type 1 HPS patients (p \u003c 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 \u003c 0.001). The maculae were translucent in patients with type 1 HPS, while patients with type 3 HPS had opaque maculae (p \u003c 0.001).\nCONCLUSIONS: Patients with type 1 HPS had poorer BCVA, increased incidence of esotropia, lighter iris and macular appearance. In contrast, patients with type 3 HPS had more exotropia. In addition, to our knowledge this is the largest series type 3 HPS ever reported.","tracks":[{"project":"DisGeNET5_gene_disease","denotations":[{"id":"24766090-3#83#86#gene8546","span":{"begin":420,"end":423},"obj":"gene8546"},{"id":"24766090-3#83#86#gene3257","span":{"begin":420,"end":423},"obj":"gene3257"},{"id":"24766090-3#94#99#gene3257","span":{"begin":431,"end":436},"obj":"gene3257"},{"id":"24766090-3#48#56#diseaseC0001916","span":{"begin":385,"end":393},"obj":"diseaseC0001916"}],"relations":[{"id":"83#86#gene854648#56#diseaseC0001916","pred":"associated_with","subj":"24766090-3#83#86#gene8546","obj":"24766090-3#48#56#diseaseC0001916"},{"id":"83#86#gene325748#56#diseaseC0001916","pred":"associated_with","subj":"24766090-3#83#86#gene3257","obj":"24766090-3#48#56#diseaseC0001916"},{"id":"94#99#gene325748#56#diseaseC0001916","pred":"associated_with","subj":"24766090-3#94#99#gene3257","obj":"24766090-3#48#56#diseaseC0001916"}],"attributes":[{"subj":"24766090-3#83#86#gene8546","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"24766090-3#83#86#gene3257","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"24766090-3#94#99#gene3257","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"24766090-3#48#56#diseaseC0001916","pred":"source","obj":"DisGeNET5_gene_disease"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"DisGeNET5_gene_disease","color":"#c2ec93","default":true}]}]}}