Vascular malformations caused by GNAQ/GNA11 somatic mutations are related to capillary malformations (CM), which include port-wine stains (PWS), and also include capillary malformation-related syndromes, such as Sturge-Weber syndrome (SWS), capillary malformation with overgrowth (CMO), diffuse capillary malformation with overgrowth (DCMO), and phakomatosis pigmentovascularis (PPV). These disorders are known as the GNA-Related Capillary malformation spectrum (GNARCMs). This spectrum presents a therapeutic challenge. This study aimed to evaluate the efficacy and safety of photodynamic therapy (PDT) for treating the GNARCMs of pediatric patients. The clinical manifestations of the pediatric GNARCMs patients were retrospectively analyzed, and the treatment data were assessed after undergoing PDT mediated with a combination of Hemoporfin and 532-nm light. For evaluation of improvement, photographs taken before and after photodynamic therapy were evaluated by three independent assessors blindly. Patient satisfaction was also used as a factor in the efficacy evaluation. Adverse events were recorded after treatment. We identified 25 pediatric patients in the study, including 11 patients of SWS, 8 patients of PPV, 5 patients of CMO, and 1 patient of DCMO. After an average of 1.64 sessions of PDT, based on the overall visual assessment, 72% of patients responded to treatment (with >25% color blanching), 48% of patients showed excellent or good levels of improvement (with >50% color blanching). Most adverse events were transient and self-limiting, except one patient of SWS, on the third day after PDT, the visual acuity of the eye on the non-treated side suddenly decreased, and the patient was diagnosed with retinal detachment, which was considered to be related to primary glaucoma rather than PDT. Focusing on the various clinical manifestations of the GNARCMs, after except contraindications, PDT can be selected for treatment of pediatric patients, and its effectiveness and safety are worthy of affirmation.

Biallelic variants in the STAMBP gene are known to cause Microcephaly-capillary malformation syndrome (MICCAP syndrome). Here we report an 18-month-old female with a novel splice site variant, c.376-1G>A in intron-4, with the phenotype of a patient who presented to us with fetal onset growth retardation, developmental delay, drug-resistant seizures, multiple capillary malformations, dysmorphism, tone abnormalities, and distal skeletal and nail abnormalities. Functional studies by RNA analysis and quantitative polymerase chain reaction (qPCR) showed that the variant leads to loss of function. The clinical features noted in this child strongly overlapped with the phenotypes reported in the literature, except for absent dentition and retinal dystrophy-like findings on fundus examination. A total of 22 cases have been reported in the literature. We present a detailed description of an Indian child, expanding the clinical and molecular spectrum of STAMBP-related disease.

This study aimed to evaluate subclinical retinal microvascular changes with OCTA in juvenile systemic lupus erythematosus (JSLE) patients without ocular involvement. Ten eyes of 10 JSLE and 13 eyes of 13 age and sex-matched healthy controls (HCs) were enrolled. The superficial (SCP) and deep capillary plexus (DCP), FAZ parameters, the flow area of the outer retina, and choriocapillaris were evaluated using OCTA. All vessel density (VD) parameters in DCP were significantly lower in JSLE group compared to HCs. There was no significant difference between the groups in VD parameters of both SCP and ONH, FAZ, outer retina and choriocapillaris flow area. All DCP VD parameters showed a good ability to differentiate JSLE from HCs. OCTA could detect retinal vascular impairment in the deep macular region in JSLE patients with normal ocular examination. Furthermore, all DCP VD parameters have a good ability to discriminate JSLE from HCs.

Sturge-Weber syndrome is a disorder marked by a distinctive facial capillary malformation, neurological abnormalities, and ocular abnormalities such as glaucoma and choroidal hemangioma. We report a case of progressively formed retinal vessel malformation in a premature male infant with Sturge-Weber syndrome and retinopathy of prematurity, after treatment with intravitreal anti-vascular endothelial growth factor (VEGF). The baby was born at 30 weeks gestation with a nevus flammeus involving his left eyelids and maxillary area. On postmenstrual age week 39, he received intravitreal anti-VEGF. Diffuse choroidal hemangioma became evident at 40 weeks, with the classic "tomato catsup fundus" appearance. These clinical findings characterized Sturge-weber syndrome. He presented with posterior retinal vessel tortuosity and vein-to-vein anastomoses at 44 weeks. This is a rare case of documented progression of retinal vessel malformations in a patient with Sturge-Weber syndrome and retinopathy of prematurity.

To investigate the retinal vascular structure and capillary anomalies of affected and fellow eyes of patients with unilateral Coats' disease using multimodal imaging. Clinical investigation of both eyes of each patient with diagnosed Coats' disease using ultra-widefield (UWF) fundus imaging, including UWF fluorescein angiography (UWFFA), spectral domain optical coherence tomography (OCT) and optical coherence tomography angiography (OCT-A). We analysed 38 eyes of 19 patients with unilateral Coats' disease and found that all fellow eyes (19/19; 100%) revealed vascular alterations, detected by UWFFA, predominantly located in the temporal periphery. Thereby, 89% of the fellow eyes (17/19) presented capillary bed abnormalities, that did not exceed the capillary level; 58% (11/19) presented tortuous abnormalities and 26% (5/19) presented microaneurysmatic abnormalities, exceeding the capillary level. If primarily affected eyes presented central Coats' specific vascular abnormalities, fellow eyes revealed tortuous vascular abnormalities twice as often (78% (7/9) vs 40% (4/10); P=0.096). In primarily affected eyes, a tendency towards larger foveal avascular zones was revealed, compared to fellow eyes (0.28±0.16 mm2 vs 0.20±0.10 mm2; P=0.123). The use of modern multimodal imaging allows the detection of even subtle vascular changes in fellow eyes of patients with Coats' disease. Coats' disease appears to be a bilateral ocular disease with a predominant manifestation in one eye of the affected patients.