To describe a case of TUBA1A -associated optic nerve hypoplasia and persistent fetal vasculature. Observational case report. A female, full-term infant was found to have a Dandy-Walker malformation with cerebellar and brainstem hypoplasia, ventriculomegaly, and lissencephaly. Her ophthalmic examination was notable for persistent fetal vasculature, optic nerve hypoplasia, vitreous hemorrhage, and peripheral retinal nonperfusion. Subsequent genetic testing revealed a TUBA1A genetic variant. Persistent fetal vasculature, peripheral retinal vascular abnormalities, and optic nerve hypoplasia may be associated with TUBA1A variants. These patients should be carefully evaluated with dilated retinal examination and fluorescein angiography to detect retinal perfusion abnormalities requiring treatment. Familial cerebral cavernous malformations (FCCM) is a disorder characterized by multiple vascular lesions in the brain and spinal cord that consist of clustered, endothelial-lined caverns ranging in diameter from a few millimeters to several centimeters. Cerebral and/or spinal cavernous malformations may increase in number over time, and individual lesions may increase or decrease in size. The number of cerebral cavernous malformations (CCMs) identified in an individual ranges from one or two to hundreds of lesions (typical number 6-20 CCMs) depending on the individual's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades of life either incidentally or associated with seizures, focal neurologic deficits, headaches, and/or cerebral hemorrhage. Cutaneous vascular lesions are found in 9% and retinal vascular lesions in almost 5% of affected individuals. Up to 50% of individuals with FCCM remain symptom free throughout their lives. The diagnosis of familial cerebral cavernous malformations (FCCM) is established in a proband with multiple CCMs, one CCM and at least one other family member with one or more CCMs, or a heterozygous germline pathogenic variant in KRIT1, CCM2, or PDCD10 identified by molecular genetic testing. Treatment of manifestations: Surgical removal of symptomatic lesions may be considered in individuals with acute hemorrhage and/or a mass effect presenting with focal neurologic deficit, headache, or seizure or in those with intractable seizures (with or without associated hemorrhage). Treatment of epilepsy is symptomatic. Headaches are managed symptomatically and prophylactically. Rehabilitation may aid in management of acute and chronic neurologic deficits. Surveillance: Brain MR imaging with susceptibility-weighted imaging (SWI) is indicated in individuals experiencing new neurologic manifestations. Agents/circumstances to avoid: Caution is recommended with medications such as analgesics such as NSAIDs, antithrombotic medications such as heparin and warfarin (Coumadin®), thrombolytic agents, and oral female hormones. Note: When antithrombotic and thrombolytic medications are necessary for treatment of life-threatening thrombosis, careful consideration of appropriate dosage and close monitoring are warranted. Radiation to the central nervous system may lead to new lesion formation. Evaluation of relatives at risk: Asymptomatic at-risk relatives of all ages may be evaluated by molecular genetic testing if the family-specific pathogenic variant is known to allow early diagnosis and monitoring of individuals at risk of developing CCMs. Symptomatic relatives may undergo brain MRI with SWI sequences to determine presence, size, and location of lesions. Pregnancy management: Pregnant women with FCCM who have had recent brain or spinal cord hemorrhage, epilepsy, or headaches require close monitoring during pregnancy. Seizures are the most common manifestations of CCM hemorrhage during pregnancy; exposure to anti-seizure medication during pregnancy may increase the risk for adverse fetal outcomes but is generally recommended, as the fetal risk is typically less than that associated with an untreated maternal seizure disorder. Any focal neurologic deficits or severe headaches during pregnancy should be evaluated and other neurologic causes (e.g., ischemic stroke, cerebral venous thrombosis) ruled out. FCCM is inherited in an autosomal dominant manner. Many individuals diagnosed with FCCM have a symptomatic parent. The proportion of individuals with FCCM caused by a de novo pathogenic variant is unknown. Each child of an individual with FCCM has a 50% chance of inheriting an FCCM-related pathogenic variant. If a pathogenic variant has been identified in an affected family member, prenatal testing of an at-risk pregnancy and preimplantation genetic testing are possible.

Aims/Background Pregnancy can affect various bodily functions, including metabolism, cardiovascular function, and eyesight. Pathological ocular changes observed during pregnancy are linked to the development of pregnancy-specific conditions, such as preeclampsia/eclampsia and gestational diabetes. This study aims to analyze clinical data disease history and maternal characteristics collected during pregnancy, to determine ocular parameters and develop a risk prediction model for adverse ocular outcomes. Methods We retrospectively analyzed the medical records of 760 pregnant women (1520 eyes) from September 2020 to September 2022 at The Third Affiliated Hospital of Guangzhou Medical University. We identified maternal variables that could influence adverse ocular outcomes, including maternal age, pregnancy-induced hypertension (PIH), gestational diabetes mellitus (GDM), eclampsia, pre-eclampsia, uterine disease, fetal abnormalities, in vitro fertilization with embryo transfer, hypoproteinemia, and major comorbidities during pregnancy. Univariate and multivariate logistic regression analyses were conducted to evaluate the effects of these independent predictors on adverse ocular outcomes. Additionally, receiver operating characteristic (ROC) curve analysis was performed to determine the cut-off probability with for optimal sensitivity and specificity. Results Eclampsia, pre-eclampsia, GDM, a history of chronic hypertension, and hypoproteinemia were identified as independent predictors of adverse ocular outcomes during pregnancy (p < 0.05). Maternal age, PIH, intrauterine growth retardation (IUGR), obesity, and pregnancy with immunoglobulin A nephropathy were predictors of moderate and severe retinal arteriole sclerosis during pregnancy (p < 0.05). Additionally, hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome were predictors of retinal hemorrhage and exudate during pregnancy (p < 0.05). The area under the ROC curve for adverse ocular outcomes were 0.75 and 0.74, respectively. Conclusion Our predictive model effectively forecasts adverse ocular outcomes during pregnancy, incorporating risk factors such as maternal age, eclampsia and pre-eclampsia, GDM, obesity, a history of chronic hypertension, hypoproteinemia, IUGR, pregnancy with immunoglobulin A nephropathy, and HELLP syndrome.

Most ocular lesions have been described for children with congenital Zika syndrome. The frequency of finding ocular abnormalities is unknown among children exposed to Zika virus (ZIKV) during pregnancy. This study was conducted on newborns whose mothers were positive for ZIKV, confirmed with reverse-transcription polymerase chain reaction (RT-PCR) testing. To report ocular fundus manifestations in newborns with congenital ZIKV exposure in French Guiana, Martinique, and Guadeloupe, French West Indies, to assess its prevalence. Risk factors, such as the presence of extraocular fetopathies and the gestational term at infection, were sought. This was a cross-sectional multicentric study, conducted from August 1, 2016, to April 30, 2019, for which data were collected prospectively. The study inception was at the beginning of 2016 from the onset of the ZIKV epidemic in the French West Indies. Newborns whose mothers tested positive (by RT-PCR) for ZIKV during pregnancy were included. Fundus examination was performed using widefield retinal imaging after pupil dilation. Infection date, delivery mode, and newborn measurements were collected. Anomalies of the vitreous, choroid, retina, and optic disc. A total of 330 children (mean [SD] age, 68 [IQR, 22-440] days; 170 girls [51.5%]) were included. Eleven children (3.3%) had perivascular retinal hemorrhages, and 3 (0.9%) had lesions compatible with congenital ZIKV infection: 1 child had torpedo maculopathy, 1 child had a chorioretinal scar with iris and lens coloboma, and 1 child had a chorioretinal scar. Retinal hemorrhages were found at childbirth during early screening. Lesions compatible with congenital ZIKV infection were not associated with the presence of extraocular fetopathy. Microcephaly was not associated with lesions compatible with congenital ZIKV infection (odds ratio [OR], 9.1; 95% CI, 0.8-105.3; P = .08), but severe microcephaly was associated with an OR of 81 (95% CI, 5.1-1297.8; P = .002). Results of this cross-sectional study suggest that the ocular anomalies found may be associated with ZIKV in 0.9% of the exposed population. Ocular lesions were rare, affected mostly the choroid and retina, and seemed to be associated with choroiditis-related scarring that developed during fetal growth.

Retinal cavernous hemangioma (RCavH) is an uncommon, benign, vascular tumor of venous aneurysms. It can be sporadic or inherited in an autosomal-dominant pattern as part of an oculoneurocutaneous syndrome. Some affected patients are asymptomatic, and others have symptoms related to retinal dragging and vitreous hemorrhage. In the case presented here, the tumor was located in the anterior retina overhanging the ciliary body with lens involvement and heterochromia. The differential diagnosis included traumatic hemorrhage, persistent fetal vasculature, juvenile xanthogranuloma, retinoblastoma, medulloepithelioma, and others. Fluorescein angiography documented the slow-filling cavernous aneurysms of RCavH.

To describe the clinical features, therapeutic interventions, and patient outcomes of gastrointestinal (GI) hemorrhage in individuals with a telomere biology disorder, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, Revesz syndrome, and Coats plus. Clinical Care Consortium for Telomere Associated Ailments members were invited to contribute data on individuals with telomere biology disorders at their institutions who experienced GI bleeding. Patient demographic, laboratory, imaging, procedural, and treatment information and outcomes were extracted from the medical record. Sixteen patients who experienced GI hemorrhage were identified at 11 centers. Among 14 patients who underwent genetic testing, 8 had mutations in TINF2, 4 had mutations in CTC1 or STN1, and 1 patient each had a mutation in TERC and RTEL1. Ten patients had a history of hematopoietic cell transplantation. The patients with Coats plus and those without Coats plus had similar clinical features and courses. Angiodysplasia of the stomach and/or small bowel was described in 8 of the 12 patients who underwent endoscopy; only 4 had esophageal varices. Various medical interventions were trialed. No single intervention was uniformly associated with cessation of bleeding, although 1 patient had a sustained response to treatment with bevacizumab. Recurrence was common, and the overall long-term outcome for affected patients was poor. GI bleeding in patients with telomere biology disorders is associated with significant morbidity and with vascular ectasias rather than varices.