Purpose: To describe the ocular clinical and imaging findings of a patient with isolated vitreous metastasis, confirmed by vitreous biopsy, from an anaplastic lymphoma kinase (ALK)-positive metastatic lung cancer.
Methods: Case report.
Results: A 47-year-old woman with a history of metastatic ALK-positive lung cancer was referred by her oncologist because of unilateral blurred vision over 4 weeks.
Introduction: Tuberous sclerosis complex (TSC) is a rare hereditary phakomatosis. The clinical features can include benign growths in the central nervous system, tumors of various visceral organs, and retinal or optic disc astrocytic hamartomas in the nerve fiber layer. Here we present the case of a child with known TSC developing Coats-like manifestations.
View Article and Find Full Text PDFThis study aimed to genetically and clinically characterize a unique cohort of 25 individuals from 21 unrelated families with autosomal recessive nanophthalmos (NNO) and posterior microphthalmia (MCOP) from different ethnicities. An ophthalmological assessment in all families was followed by targeted MFRP and PRSS56 testing in 20 families and whole-genome sequencing in one family. Three families underwent homozygosity mapping using SNP arrays.
View Article and Find Full Text PDFOral propranolol reduces retinopathy of prematurity (ROP) progression, although not safely. Propranolol 0.1% eye micro-drops administered to newborns with stage 2 ROP are well-tolerated, but not sufficiently effective.
View Article and Find Full Text PDFPurpose: To describe a novel macular phenotype that is associated with normal visual function.
Design: Retrospective, observational case series.
Participants: Thirty-six affected individuals from 23 unrelated families.
Purpose: To review the anatomic and visual outcomes of a series of children diagnosed with Coats' disease and treated on the basis of intraoperative fluorescein angiography (FA) findings.
Design: Retrospective case series.
Participants: Twenty-five children 2 to 15 years of age diagnosed with early Coats' disease and treated after intraoperative FA.
Purpose: To assess the diagnostic validity of morphometric examination of the optic disc and retinal nerve fiber layer (RNFL) thickness to detect permanent structural changes after retrobulbar optic neuritis (ON).
Design: Evaluation of a diagnostic test.
Participants: Twenty-five patients with a history of retrobulbar ON and 29 disease-free controls.