Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2.

Hermansky-Pudlak syndrome type 2 (HPS2) is an extremely rare autosomal recessive inherited disease characterized by partial oculocutaneous albinism (OCA), bleeding diathesis due to a storage pool deficiency and immunodeficiency. The disorder is caused by disruption of the adapter protein 3 complex, which is involved in impaired intracellular vesicle transport. Here, we report the first case of a 1-year-old girl with HPS2 in Asia. She had no specific symptoms other than OCA and neutropenia. We analyzed her platelet function using transmission electron microscopy and a platelet aggregation test, cytotoxic degranulation assay of her natural killer (NK) cells and bleeding time, the results of which led to the diagnosis of HPS2. Although her NK-cell cytotoxic degranulation was impaired, she had not developed signs of hemophagocytic lymphohistiocytosis (HLH) or fibrosing lung disease. Molecular genetic analyses showed novel heterozygous mutations (c.188T>A [p.M63K] and c.2546>A [p.L849X]) in AP3B1. When examining patients with OCA, blood tests should be performed to confirm neutrophil count, bleeding time and platelet agglutination. When HPS2 is suspected, detailed immunological tests should be considered, and attention should be paid to HLH and pulmonary lesions immediately and over the long term.

Prognostic factors of revitrectomy for complications in eyes with proliferative diabetic retinopathy: a retrospective multicentre study.

PURPOSE: To identify prognostic factors for revitrectomy in patients who underwent vitrectomy for complications with proliferative diabetic retinopathy (PDR) in multicentre study. METHODS: Consecutive 452 eyes of 452 patients with PDR undergoing 25-gauge microincision vitrectomy system (MIVS) in seven centres were retrospectivity reviewed. Preoperative ocular factors (baseline visual acuity [VA], vitreous haemorrhage [VH], tractional retinal detachment [TRD] and retinal photocoagulation), general factors (sex, age, diabetes duration, HbA1c level, hypertension, anti-coagulant medication and estimated glomerular filtration rate), surgical procedures (preoperative anti-vascular endothelial growth factor injection, internal limiting membrane peeling, combined cataract surgery, retinal break, and tamponade), postoperative complications for revitrectomy and postoperative VA at 6 months were evaluated. RESULTS: In the follow-up period of 6 months, revitrectomy was performed in 56 eyes (26.3%), and postoperative complications for revitrectomy were VH in 31 eyes (15%), TRD in 13 eyes (6.2%) and membrane proliferation in 12 eyes (5.2%). The mean LogMAR improvement from baseline to 6 months in revitrectomy group (0.39) was significantly worse than in single vitrectomy group (0.74). Diabetic duration, low baseline VA, less simple VH, TRD and air tamponade were statistical risk factors of revitrectomy, and logistic regression analysis identified low baseline VA and air tamponade also as prognostic factors of revitrectomy. CONCLUSION: Our results indicated that prognosis of VA was worse in PDR patients with revitrectomy and low baseline VA and air as the tamponade material were the potential prognostic factors of revitrectomy.

Outcomes of 25-Gauge Vitrectomy for Tractional and Nontractional Diabetic Macular Edema with Proliferative Diabetic Retinopathy.

The benefit of pars plana vitrectomy with internal limiting membrane peeling for tractional macular edema and diffuse nontractional macular edema in diabetic retinopathy has been reported. Although these studies had included various stages, use of conventional 20-gauge vitrectomy system, small number of cases, single-center study, and lack of retinal structure measurements were limitations. We compared one-year outcomes of 25-gauge vitrectomy for refractory diabetic macular edema with or without the tractional proliferative membrane in proliferative diabetic retinopathy (PDR) eyes and examined the prognostic factors for postoperative visual acuity. A total of consecutive 116 PDR eyes of 116 patients that underwent 25-gauge vitrectomy for tractional macular edema (TME group: 56 eyes) or nontractional macular edema (nTME group: 60 eyes) at six centers were retrospectively reviewed. Visual acuity (VA), central macular thickness (CMT), complications, and postoperative treatments before and 12 months after vitrectomy were compared. Mean VA improved significantly in each group (both P < 0.01), and mean CMT decreased significantly in each group (both P < 0.01). Thirteen eyes underwent additional vitrectomy, six eyes developed neovascular glaucoma, six eyes received intravitreal anti-VEGF injection, and thirteen eyes received subtenon triamcinolone acetonide injection. Multiple linear regression analysis showed that baseline VA and CMT in the TME group and kidney function in the nTME group were the predictable factors of the 12-month postoperative VA. Twenty-five-gauge vitrectomy effectively improved VA and macular structure both in TME and nTME groups. Baseline VA, CMT, and kidney function are important factors affecting postoperative VA.

Risk Factors of Neovascular Glaucoma After 25-gauge Vitrectomy for Proliferative Diabetic Retinopathy with Vitreous Hemorrhage: A Retrospective Multicenter Study.

Neovascular glaucoma (NVG) is a terminal severe complication in eyes with proliferative diabetic retinopathy (PDR), and PDR eyes with vitreous hemorrhage (VH) which undergo vitrectomy may have higher risk of postoperative NVG. The incidence and the prognostic factor of postoperative NVG after 25-gauge vitrectomy with advanced surgical options remain unclear. We retrospectively reviewed medical records of 268 eyes of 268 consecutive PDR patients with VH who underwent 25-gauge vitrectomy and 12 months follow-up at seven centers. Preoperative ocular factors (visual acuity, tractional retinal detachment, panretinal photocoagulation [PRP]), demographics and clinical factors (sex, age, diabetic duration, HbA1c, hypertension, anticoagulant medication, and kidney function), surgical procedures, and postoperative complications were compared between patients who developed postoperative NVG (9.3%) and those who did not. NVG eyes was significantly younger (P = 0.026), had shorter diabetic duration (P = 0.022), higher HbA1c (P = 0.028), absence of PRP (P = 0.039) and higher frequency of postoperative VH (P = 0.0075) than non-NVG eyes. Logistic regression analysis identified postoperative VH (P = 0.014), shorter diabetic duration (P = 0.029), and no PRP (P = 0.028) as prognostic factors for postoperative NVG. This multicenter study indicates that younger age, uncontrolled diabetes, no PRP, and postoperative VH are risk factors of post-vitrectomy NVG.

Vitrectomy for exudative age-related macular degeneration with vitreous hemorrhage.

PURPOSE: The purpose of this study was to study the effect of pars plana vitrectomy (PPV) for age-related macular degeneration with vitreous hemorrhage on choroidal neo-vascularization (CNV). METHODS: A retrospective interventional case series in which 92 eyes with age-related macular degeneration with vitreous hemorrhage that received PPV were studied. Among them, 60 eyes without pre- or posttreatment other than PPV were selected. Choroidal neovascularization was expressed as the incidence of bleeding 6 months before and after PPV. The status of CNV after PPV was compared and classified as worsened, remained, regressed, disappeared, or unclassified. The influence of posterior vitreous detachment was examined. RESULTS: The incidence of bleeding was reduced dramatically after PPV (1.11 +/- 0.44 in preoperative 6 months vs. 0.03 +/- 0.18 in postoperative 6 months, P < 0.0001). The status of CNV improved in most cases; 40 of 54 classifiable eyes (74.1%) were categorized as "regressed" or "disappeared." Postoperative visual acuity was significantly better than preoperative visual acuity (P < 0.0001). The status of CNV subsided more in those eyes without posterior vitreous detachment than in those with posterior vitreous detachment (odds ratio, 1.02; 95% confidence interval, -0.01-2.08; P = 0.054). CONCLUSION: The activity of CNV was reduced after PPV in eyes with age-related macular degeneration with vitreous hemorrhage. Visual acuity significantly improved, with only rare severe complications. The involvement of vitreomacular traction in the patho-physiology of CNV in age-related macular degeneration is possible.