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Objective: To investigate the risk factors of lupus retinopathy (LR) in patients with systemic lupus erythematosus (SLE)., Methods: This is a retrospective, cross-sectional study. LR patients admitted at Peking Union Medical College Hospital from June 2013 to April 2023 were reviewed. Age- and gender-matched SLE patients without retinopathy were selected as controls. Medical records including clinical manifestations, laboratory data and ophthalmic examination were collected. Univariate and multivariate logistic regression analyses were conducted., Results: One hundred and twelve LR patients (198 eyes) were included, with 12 cases (14 eyes) presenting with retinal macrovascular obstruction, and 100 cases (184 eyes) only exhibiting microvasculopathy. Multivariate analysis indicated the presence of haemolytic anaemia, decreased haemoglobin (HGB) and higher relative percentage of neutrophils were independent risk factors for LR (p < 0.05). The first two were also risk factors for retinal microvasculopathy, whereas secondary antiphospholipid syndrome (APS) was for macrovascular obstruction. In male group, LR had significant associations with decreased HGB, no matter which types of retinopathy (p < 0.05). In female group, LR was significantly associated with haemolytic anaemia, presence of antiphospholipid antibodies, decreased white blood cells and relative high percentage of neutrophils. Specifically, haemolytic anaemia (p = 0.002) was significantly associated with retinal microvasculopathy, and APS (p = 0.003) was significantly associated with macrovasculature obstruction., Conclusion: LR was related to haemolytic anaemia, decreased HGB levels and higher percentage of neutrophils. Retinal microvasculopathy accounted for most cases and macrovasculature obstructions were rare. Male and female patients have distinct risk factors. Early ophthalmic screening is recommended especially for those with risk factors of LR., (© 2024 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.)

Purpose: Using optical coherence tomography angiography (OCT-A) to compare the retinal micro vessel alteration between obstructive sleep apnea (OSA) children and normal subjects., Methods: One hundred-thirty-two eyes (132 participants) were recruited in this study. The average age of OSA group (66 eyes) and healthy control group (66 eyes) were 6.23 ± 1.73 and 6.76 ± 1.89 years, respectively. The retinal vascular network density indices and the fovea avascular zone (FAZ) size were analyzed by OCT-A., Results: All of the OCT-A parafoveal vessel indices, including the vascular diameter (VD), vascular area density (VAD), vascular skeleton density (VSD), and vessel perimeter index (VPI) in the macular superficial/deep capillary plexus (SCP/DCP) as well as the FAZ in the DCP, were significantly lower in the OSA group than in the control group ( p < .05). The four parafoveal quadrants indices (temporal, superior, nasal, and inferior) of VD and VAD in both the two layer were significantly lower in the OSA group than in control group ( p < .05). However, the differences of VSD and VPI indices in the SCP/DCP did not show statistical significant changes., Conclusion: The intermittent hypoxia in children with OSA might influence the retinal capillary vascular supply. We speculate that the indices of the quadrants are lower in OSA children compared with those in healthy controls, which may be due to the change of the retinal metabolic demands. OCT-A is an ideal method to evaluate the retinal alterations in pediatric OSA., Abbreviations: OCT-A: optical coherence tomography angiography; OSA: obstructive sleep apnea; FAZ: fovea avascular zone; VD: vascular diameter; VAD: vascular area density; VSD: vascular skeleton density; VPI: vessel perimeter index; SCP/DCP: superficial/deep capillary plexus; BCVA: best corrected visual acuity; SE: spherical equivalent; AL: ocular axial length; T: temporal; N: nasal; (S): superior; (I): inferior; (SD): standard deviation.

Purpose: To characterize ocular manifestations in a cohort of paediatric patients with incontinentia pigmenti (IP) and to define the guidelines for grading of IP-associated retinopathy (IPR)., Methods: This retrospective review was performed on patients under the age of 18 years with a diagnosis of IP. Data included demographics, medical history, ocular examination, and accessory examination. Ocular and systemic physical examinations of the parents were carried out to determine the familial history., Results: Sixty-one children (58 females and three males) with median age of 3.7 months were observed consecutively. The median follow-up duration was 13.4 months (range: 6.5-75.0 months). A total of 47 patients had various ocular anomalies. Among them, 28 patients had bilateral ocular anomalies and 19 had unilateral anomalies. Vitreoretinal changes were noted in 73 of 122 eyes, including eight eyes with retinal pigment epithelium changes only (Stage 1), 22 eyes with retinal vascular abnormalities (Stage 2), five eyes with epiretinal membranes or fibrotic hyperplasia combined with avascularized zones (Stage 3), six eyes with retinal neovascularization (Stage 3), one eye with vitreous haemorrhage (Stage 3), 10 eyes with partial retinal detachment (RD) (Stage 4a), 15 eyes with total RD (Stage 4b) and eight eyes with phthisis bulbi and secondary glaucoma (Stage 5)., Conclusion: Various vitreoretinal manifestations can be found in paediatric patients with IP and classified into five stages, which are characterized by retinal vasculopathy., (© 2018 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.)

Rationale: Report a case of bilateral multiple retinal hamartomas (RAHs) in a patient with tuberous sclerosis complex (TSC) and introduced a new method (subthreshold micropulse laser photocoagulation) for the treatment of RAHs., Patient Concerns: A 20-year-old man with TSC complained of decreased vision and metamorphosia in both eyes for 2 months. At presentation, visual acuity (VA) was 20/32 in the right eye and 20/40 in the left eye. Fundus photographs, optical coherence tomography, fundus fluorescein angiography (FFA), and indocyanine green angiography indicated multiple RAHs in both eyes., Diagnoses: Bilateral retinal astrocytic hamartomas., Interventions: In the right eye, 577 nm photocoagulation was adopted to treat the RAHs with obvious fluorescein leakage in FFA. The paramacular RAHs were treated by subthreshold micropulse mode to minimize the damage to macula. Photocoagulation therapy was administrated in the left eye after 1 dose of intravitreal ranibizumab treatment., Outcomes: After photocoagulation therapy (including subthreshold micropulse laser photocoagulation for the paramacular RAHs in both eyes), the VA improved to 20/25 OD and 20/32 OS with no recurrence of exudation., Lessons: About 577 nm photocoagulation for the peripheral RAHs in combination with subthreshold micropulse laser photocoagulation for RAHs in the macular zone is a good option for multiple RAHs in patients with TSC.

Inherited retinal disease (IRD) is a category of genetic disorders affecting retina. Understanding the molecular basis of IRD is vital for clinical and genetic classification of patients. Uyghur people is an isolated ethnic group mainly residing in northwestern China with genetic admixture from Europeans and East Asians. The genetic etiology of IRD in this specific population still remains unknown. Here, by next-generation sequencing (NGS), we screened mutations in over 200 known retinal disease genes in a cohort of 12 unrelated Uyghur IRD probands. Out of the 12 probands, six are solved with high confidence, two with low confidence, while the remaining four are unsolved. We identified known disease-causing alleles in this cohort that suggest ancient Uyghur migration and also discovered eight novel disease-associated variants. Our results showed NGS-based mutation screening as a reliable approach for molecular diagnosis. In addition, this approach can also be applied to reveal the genetic history of a specific ethnic group.

Background: Hypertensive retinal microvascular abnormalities include an increased retinal vein-to-artery diameter ratio. Because central retinal vein pressure depends on cerebrospinal fluid pressure (CSFP), we examined whether the retinal vein-to-artery diameter ratio and other retinal hypertensive signs are associated with CSFP., Methods: Participants of the population-based Beijing Eye Study (n = 1,574 subjects) underwent measurement of the temporal inferior and superior retinal artery and vein diameter. CSFP was calculated as 0.44 × body mass index (kg/m(2)) + 0.16 × diastolic blood pressure (mm Hg) - 0.18 × age (years) - 1.91., Results: Larger retinal vein diameters and higher vein-to-artery diameter ratios were significantly associated with higher estimated CSFP (P = 0.001) in multivariable analysis. In contrast, temporal inferior retinal arterial diameter was marginally associated (P = 0.03) with estimated CSFP, and temporal superior artery diameter was not significantly associated (P = 0.10) with estimated CSFP; other microvascular abnormalities, such as arteriovenous crossing signs, were also not significantly associated with estimated CSFP. In a reverse manner, higher estimated CSFP as a dependent variable in the multivariable analysis was associated with wider retinal veins and higher vein-to-artery diameter ratio. In the same model, estimated CSFP was not significantly correlated with retinal artery diameters or other retinal microvascular abnormalities. Correspondingly, arterial hypertension was associated with retinal microvascular abnormalities such as arteriovenous crossing signs (P = 0.003), thinner temporal retinal arteries (P < 0.001), higher CSFP (P < 0.001), and wider retinal veins (P = 0.001) or, as a corollary, with a higher vein-to-artery diameter ratio in multivariable analysis., Conclusions: Wider retinal vein diameters are associated with higher estimated CSFP and vice versa. In arterial hypertension, an increased retinal vein-to-artery diameter ratio depends on elevated CSFP, which is correlated with blood pressure., (© American Journal of Hypertension, Ltd 2014. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)

It has been demonstrated that higher degree of arteriolar retinopathy is associated with greater cardiovascular risk, and hyperhomocysteinaemia is also related to increased cardiovascular risk, but interacts with other risk factors, particularly smoking. It still remains unclear regarding relationships of smoking, fasting plasma total homocysteine (tHcy) levels and arteriolar retinopathy. This study was aimed to investigate the relationship and influence of smoking and tHcy levels on degree of arteriolar retinopathy. Two hundred and forty-three subjects were enrolled from an annual health examination. The arteriolar retinopathy was examined by direct ophthalmoscopy. Dundett ANOVA showed that geometric mean of tHcy levels were 11.5+/-1.54 versus 11.2+/-1.41 versus 17.6+/-1.92 (P1=0.883, P2=0.001) in subjects with no arteriolar retinopathy (as control group), grades I and II retinopathy, respectively. Furthermore, multiple linear regression analysis showed that only smoking consumption (P<0.001), gender (P=0.012) and presence of hypertension (P=0.041) were independent determinants of plasma tHcy levels. After females were excluded, T-test showed a significant differences in tHcy levels (15.6+/-1.56 micromol/L versus 12.4+/-1.45 micromol/L, P=0.003) and in prevalence of grade II retinopathy (25.4% versus 9.3%, P=0.029), but no difference in other variables or prevalence of overall retinopathy between smokers and non-smokers. Finally, logistic regression showed that smoking (OR 4.19, 95% CI 1.17-15.0) was a stronger predictor than hyperhomocysteinaemia (OR 2.14, 95% CI 0.85-5.41) for presence of grade II retinopathy. This study showed that smoking was related to increased plasma tHcy levels in subjects with grade II retinopathy, and it could independently contribute to facilitating the progression of arteriolar retinopathy.

Nineteen cases of acute accidental laser injury of the human retina and two groups of laser workers with chronic retinal damage were reviewed. Most acute cases had macular injury and vision impairment; the chronic cases usually suffered from nonspecific eye complaints. Pathological and photochemical studies of laser injury to rabbit retina were also made following exposure to a 0.49-W Ar laser. The retinal pigment epithelial cells and photoreceptors were mildly damaged in the laser spot center, but the Bruch's membrane was still intact. Malondialdehyde (MDA), the main degradation product of lipid peroxidation of the retina, was assessed with fluorescence spectrophotometry. The level of MDA in the injured retina was significantly higher than that in control eyes, suggesting that thermal levels of Ar laser exposure can yield evidence of photochemical light damage mechanisms.