Aims: To describe the prevalence of the Charles Bonnet syndrome (CBS) and search for potential CBS risk factors in a Dutch Stargardt disease (STGD1) cohort.
Methods: Eighty-three patients with STGD1 were screened for CBS. They underwent a full eye examination.
Purpose: To report the long-term follow-up (12 years) of a 36-year-old male patient with crystalline keratopathy of both eyes, diagnosed with monoclonal gammopathy of undetermined significance (MGUS). Complete ophthalmic, systemic, and corneal immunohistochemical evaluations were performed.
Observations: Slit-lamp examination revealed bilateral fine iridescent confluent crystalline deposits in all layers of the cornea, both peripherally and centrally.
Purpose: To study long-term macular changes by spectral-domain (SD) OCT in patients with Sjögren-Larsson syndrome (SLS).
Design: Retrospective cohort study.
Participants: Twenty-two patients with genetically proven SLS (12 female, 10 male; median age, 21 years; range, 3-47 years) were included in the study.
Unlabelled: The aim of this retrospective study is to describe ocular findings in a large Noonan syndrome cohort and to detect associations between ocular features and genetic mutations that were not found in earlier studies. We collected ophthalmological and genetic data of 105 patients (median age, 12 years; range, 0-60 years) clinically diagnosed as Noonan syndrome. The ocular findings were linked to the genotypes.
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