ABSTRACT
This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describes the comprehensive genetic profile of a large cohort of patients. Medical records of 22 ophthalmology and genetics services throughout 13 Argentinian provinces were analyzed retrospectively. Patients with a clinical diagnosis of an ophthalmic genetic disease and a history of genetic testing were included. Medical, ophthalmological and family history was collected. A total of 773 patients from 637 families were included, with 98% having inherited retinal disease. The most common phenotype was retinitis pigmentosa (RP, 62%). Causative variants were detected in 379 (59%) patients. USH2A, RPGR, and ABCA4 were the most common disease-associated genes. USH2A was the most frequent gene associated with RP, RDH12 early-onset severe retinal dystrophy, ABCA4 Stargardt disease, PROM1 cone-rod dystrophy, and BEST1 macular dystrophy. The most frequent variants were RPGR c.1345 C > T, p.(Arg449*) and USH2A c.15089 C > A, p.(Ser5030*). The study revealed 156/448 (35%) previously unreported pathogenic/likely pathogenic variants and 8 possible founder mutations. We present the genetic landscape of IED in Argentina and the largest cohort in South America. This data will serve as a reference for future genetic studies, aid diagnosis, inform counseling, and assist in addressing the largely unmet need for clinical trials to be conducted in the region.
ABSTRACT
BACKGROUND: Iris microhemangiomatosis is a rare vascular iris tumor, with potential severe complications such as increased intraocular pressure (IOP). We aim to describe a case report of a patient presenting with hyphema secondary to iris microhemangiomatosis triggered by excessive high blood pressure. CASE PRESENTATION: A 74-year-old woman was treated for hypertensive crisis. After her high blood pressure had been controlled and stabilized, she was discharged home. However, the same day, she complained about an acute decrease in vision in her left eye. Best corrected visual acuity was 20/20 on the right eye and 20/200 on the left eye. On biomicroscopy, a hyphema was seen. Iris neovascularization was absent, IOP and fundus examination were normal. After spontaneous resolution of the hyphema, a fluorescein angiography of the anterior segment was performed, which revealed bilateral subtle early hyperfluorescence with late staining scattered at the pupillary margin. The patient was diagnosed with iris microhemangiomatosis. During the follow-up of 24 months, the blood pressure was stable and well controlled. The patient did not experience any recurrent hemorrhage. DISCUSSION AND CONCLUSION: Spontaneous hyphema is the most common complication of iris vascular tumors. We report the occurrence of a spontaneous hyphema triggered by uncontrolled blood pressure in a patient with a very rare condition, i.e., iris microhemangiomatosis. In order to avoid complications of microhemangiomatosis such as uncontrolled glaucoma or recurrent bleeding requiring surgery, blood pressure should be monitored closely and controlled.
