Clinical and Experimental Ophthalmology最新文献

Hereditary vitreoretinopathies (HVRs), also known as hereditary vitreoretinal degenerations comprise a heterogeneous group of inherited disorders of the retina and vitreous, collectively and variably characterised by vitreal abnormalities, such as fibrillary condensations, liquefaction or membranes, as well as peripheral retinal abnormalities, vascular changes in some, an increased risk of retinal detachment and early-onset cataract formation. The pathology often involves the vitreoretinal interface in some, while the major underlying abnormality is vascular in others. Recent advances in molecular diagnosis and identification of the responsible genes and have improved our understanding of the pathogenesis, risks and management of the HVRs. Clinically, HVRs can be classified according to the presence or absence of skeletal or other systemic abnormalities, retinal dysfunction or retinal vascular abnormalities [2]. There are some discrepancies in the literature regarding which diseases are included under the overarching term 'hereditary vitreoretinopathies'. Conditions such as Stickler syndrome, Wagner syndrome and familial exudative vitreoretinopathy are generally included, while others such as autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) and autosomal dominant vitreoretinochoroidapathy (ADVIRC) may not. In this review, we will discuss some historical aspects, the molecular pathogenesis, clinical features and management of diseases and syndromes commonly considered as HVRs.

Background: To evaluate the 6-year physiological rates-of-change in ganglion cell inner plexiform layer (GCIPL) and retinal nerve fibre layer (RNFL) thickness measured with optical coherence tomography.

Methods: We included 2202 out of 2661 subjects from the population-based Singapore Chinese Eye Study who returned for follow-up 6 years after baseline examination (follow-up rate 87.7%). OCT scans with signal strength (SS) <6, imaging errors, and ocular pathologies were excluded. A linear mixed model was used to measure the rates-of-change in GCIPL and RNFL thickness. Time and difference between baseline and follow-up scan SS were modelled as fixed effect. Baseline age, baseline measurement, gender, hypertensive medication, diabetes status, cardiovascular disease, smoking status, body mass index, spherical equivalent (SE), intraocular pressure and optic disc area were each analysed in an interaction term with time.

Results: The adjusted mean rate-of-change in average GCIPL was -0.312 μm/year in males and -0.235 μm/year in females. Older age and thicker GCIPL thickness at baseline were associated with higher rates-of-change while females and more hyperopic SE were associated with lower rates-of-change. The adjusted mean rate-of-change in average RNFL was -0.374 μm, with higher rates-of-change in the vertical quadrants and no differences between genders. Older age and thicker RNFL thickness at baseline were associated with higher rates-of-change in average RNFL and RNFL thickness in the vertical quadrants, and vice versa for each unit increase in scan SS and SE.

Conclusion: Our population cohort provides data on physiological thinning of GCIPL and RNFL with age. Differentiating physiological changes in GCIPL and RNFL is important for more accurate clinical assessment.

Background: To evaluate the clinical presentation, pathological features and outcomes of retinoblastoma based on the race of origin in a global cohort of patients.

Methods: Retrospective collaborative study of 1426 patients who underwent primary enucleation for retinoblastoma.

Results: Patients were grouped into Caucasians (n = 231, 16%), Asians (n = 841, 59%), Hispanics (n = 226, 16%), Arabs (n = 96, 7%) and Others (Africans, African Americans, Indigenous Australians; n = 32, 2%) cohorts. On histopathology, massive choroidal invasion was higher in Asians (30%) and Hispanics (26%) than Caucasians (15%, p < 0.001). Post-laminar optic nerve invasion was higher in Asians (28%), Hispanics (20%) and Others (9%) than Caucasians (11%, p < 0.001). At a mean follow-up of 41 months (median, 35 months; range, < 1-149 months), tumour recurrence and metastasis-related death was higher in Hispanics (9% and 12%, respectively), Asians (4% and 13%, respectively) and Others (6% and 6%, respectively). Multivariate Cox proportional hazards analysis of outcomes based on race with 8th edition AJCC pT stage and adjuvant therapy as covariates revealed 6.8 times greater risk for orbital tumour recurrence in Hispanics compared to Caucasians (p = 0.010) and 3.2 times risk hazards for metastasis-related death in Hispanics and Asians compared to Caucasians (p = 0.028 and p = 0.038, respectively).

Conclusion: The histopathological features in primarily enucleated eyes with retinoblastoma vary with race. Despite adjusting for tumour staging and adjuvant treatment, race remains an independent predictor of outcomes, including orbital tumour recurrence and metastasis-related death. A stringent follow-up and a more aggressive treatment approach is recommended in Asians and Hispanics who manifest high-risk histopathological features.

Background: We aimed to describe a 2-year outcome of eyes managed by practitioners benchmarked using a funnel plot by their frequency of treatment using vascular endothelial growth factor (VEGF) inhibitors for naive retinal vein occlusion (RVO).

Methods: A multicentre, international, observational study of 29 doctors in 12 countries managing 1110 eyes with RVO commencing VEGF inhibitors between 1 January 2012-2022 tracked in the Fight Retinal Blindness! registry.

Results: We identified 3 outlying 'intensive' practitioners (managing 350/1110 eyes [32%]), 22 'typical' practitioners (604/1110, [54%]) and 4 outlying 'relaxed' practitioners (156/1110, [14%]) with respective 24-month outcomes in Branch and Central RVO including the primary outcome, mean adjusted change in visual acuity (VA) in BRVO: +16.2, +13.6, +9.3 letters (p < 0.01) and CRVO: +14.2, +12.7, +4.8 letters (p < 0.01); adjusted change in macular thickness in BRVO -179, -150, -159 μm (p < 0.01) and CRVO -324, -283, -232 μm (p < 0.01); time-in-range with VA > 68 letters in BRVO 90, 78, 68 weeks (p < 0.01) and CRVO 69, 60, 54 weeks (p = 0.04); median injections 18, 13 and 10; median final injection intervals, BRVO 6, 9, 10 weeks and CRVO 6, 9 and 12 weeks; with no significant difference in adverse outcomes.

Conclusions: At 24 months, the intensive practitioners were treating RVO using VEGF inhibitors with twice the frequency of the relaxed practitioners; however, their patients had gained twice (BRVO) to three times (CRVO) more letters of VA.