Publications by authors named "Phattrawan Pisuchpen"
Introduction: Bardet-Biedl Syndrome (BBS) is a ciliopathy causing developmental defects and progressive retinal dystrophy, whereas choroidal coloboma is a developmental defect causing structural deficiency in the posterior retina. Both are rarely reported together.
Methods: Here, we describe the phenotype and genotype of three unrelated patients with co-occurrence of Bardet-Biedl Syndrome and chorioretinal coloboma and review the pertinent literature.
Article Synopsis
- The paper looks at how inherited retinal diseases (IRD) are diagnosed and treated in the Asia-Pacific region.
- They surveyed 36 centers about their practices, including how they collect patient information and provide help for low vision.
- The results showed there are important gaps, like many centers not having a database for patients, not enough genetic counselors, and a need for better support for low-vision rehabilitation.
Rationale and protocol paper for the Asia Pacific Network for inherited eye diseases.
Asia Pac J Ophthalmol (Phila)
February 2024
Article Synopsis
- The Asia-Pacific region, housing about 60% of the world's population, lacks extensive knowledge about hereditary eye diseases, necessitating a regional collaboration to enhance precision medicine for affected patients.
- The Asia-Pacific Inherited Eye Disease (APIED) network, consisting of 55 members from 35 centers across 12 countries, aims to address these gaps in understanding inherited retinal diseases (IRDs) by bringing together experts in the field.
- The network's goals include improving genetic diagnosis of IRDs, standardizing phenotyping practices, and creating high-quality patient registries to support care and research in both regional and international contexts.*
Background/purpose: Mutations in CRB1 are associated with variable severity in expression leading to apparent phenotypic diversity. We present two retinal findings.
Methods: We present two unrelated children with CRB1-related retinal dystrophy with a solitary mass visualized on fundoscopy.
Purpose: The aim of this study was to report a novel PRDM5 pathologic variant and ophthalmic findings in a family with 3 children diagnosed with brittle cornea syndrome (BCS). Histopathologic findings and surgical outcome of a child with BCS who underwent full-thickness corneal transplant are described.
Methods: This is an observational case report of a nonconsanguineous Laotian family with 3 siblings diagnosed with BCS.
The purpose of this article is to determine the cause of Leber congenital amaurosis (LCA) in Chuuk state, Federated States of Micronesia (FSM). In this prospective observational case series, five patients with early-onset vision loss were examined in Chuuk state, FSM, during an ocular genetics visit to study the elevated incidence of microphthalmia. Because of their low vision these patients were incorrectly assumed to have microphthalmia.
View Article and Find Full Text PDFBackground/aims: To investigate the association of genetic polymorphisms of human leucocyte antigens (HLA) class I and II genes with acetaminophen-related Steven-Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN) who developed severe ocular complications (SOC) in the Thai population.
Methods: A prospective case-control study including 20 unrelated Thai acetaminophen-related SJS/TEN patients with SOC and 60 Thai healthy volunteers, recruited at three university hospitals in Bangkok, Thailand, from September 2014 to August 2019. HLA genes were analysed using PCR amplification followed by hybridisation with sequence-specific oligonucleotide (SSO) probes with bead-based typing kits.
Purpose: Our meta-analysis of several ethnic groups (Japanese, Korean, Indian, Brazilian) revealed a significant genome-wide association between cold medicine-related SJS/TEN (CM-SJS/TEN) with severe ocular complications (SOC) and SNPs, suggesting that might be a potential marker for susceptibility to CM-SJS/TEN with SOC. In this study, we examined the association between CM-SJS/TEN with SOC and the SNPs in the Thai population.
Methods: 57 CM-SJS/TEN with SOC and 171 control samples were collected at Chulalongkorn University and Mahidol University.
Background: We report a rare case of Phialophora verrucosa fungal keratitis, which required various types of treatment according to the intractable natural history of the disease.
Case Presentation: A 51-year-old Thai man with poorly controlled diabetes received a bamboo branch injury and developed a perforated corneal lesion on his left eye. A pathological study from therapeutic penetrating keratoplasty showed fungal hyphae.
Background: Polymorphisms in human leucocyte antigen (HLA) class I genes have been found to be associated with cold medicine (CM)-related Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) with severe ocular complications (SOC). Because ethnic differences in genetic predisposition to SJS/TEN among different populations have been proposed, we focused on Thai patients and investigated the association between HLA class I genotypes and CM-SJS/TEN with SOC.
Methods: This multicentre case-control study was conducted between September 2014 and August 2017.