The effect of oral belzutifan on retinal hemangioblastomas in von Hippel-Lindau syndrome.

Objective: To assess the effect of belzutifan, a first-in-class oral hypoxia-inducible factor 2α inhibitor, on retinal hemangioblastoma (RH) outcomes.

Subjects/methods: This is a single-centre retrospective cohort study of patients with confirmed von Hippel-Lindau syndrome (VHLS) and RH. Subjects were taking oral belzutifan for renal cell carcinoma, central nervous system hemangioblastoma, or pancreatic neuroendocrine tumours.

Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services.

Background: Genetic counselling for adolescents necessitates an approach distinct from that used with adults. Developing best practices is crucial, considering the growing number of disabled adolescents worldwide and increasing use of genomic testing early in life. We investigated perceptions of adolescents (10-19 years) who had been diagnosed with a genetic disorder in terms of how they describe receiving, understanding, and living with a genetic condition.

Quantitative Choroidal Analysis of Molecularly Characterized Retinitis Pigmentosa.

Purpose: Retinitis pigmentosa (RP) is a genetically diverse progressive retinal degeneration with many biomarkers. Detailed retinal phenotypes are described using multimodal imaging, however choroidal characteristics remain ill-defined. We report the first quantitative choroidal evaluation in molecularly characterized RP and assess relationships with retinal structure and function.

Ethnic disparities in inherited retinal degenerations.

Objective: Inherited retinal degenerations (IRD) are clinically heterogeneous. There has been little study of the influence of ethnicity on IRD phenotypes. We aim to assess clinical and genetic variability between differing ethnic groups affected by IRD.

High Resolution Imaging and Fixation Analysis of Eccentric Preferred Retinal Loci in Macular Diseases.

Purpose: The purpose of this study was to characterize the preferred retinal locus (PRL) structure and fixational eye movements in eyes with macular atrophy.

Methods: Four participants (1 each with macular atrophy due to congenital rubella, Best macular dystrophy, cuticular drusen with macular atrophy, and Stargardt disease) were studied using adaptive optics scanning light ophthalmoscopy (AOSLO), optical coherence tomography (OCT), OCT angiography (OCT-A), and microperimetry. Imaging sessions were repeated in three of the four participants.

Novel pathogenic variants in Tubulin Tyrosine Like 5 ( associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype.

Purpose: Autosomal recessive cone and cone-rod dystrophies (CD/CRD) are inherited forms of vison loss. Here, we report on and correlate the clinical phenotypes with the underlying genetic mutations.

Methods: Clinical information was collected from subjects, including a family history with a chart review.

Molecular genetic diagnostics for inherited retinal dystrophies in the clinical setting.

Objective: To evaluate the success of diagnostic genetic testing in inherited retinal dystrophy (IRD) patients in the clinical setting.

Design: Retrospective cohort analysis.

Participants: A total of 446 consecutive participants from diverse ethnic backgrounds living in western Canada.

Cataract blindness in Osun state, Nigeria: results of a survey.

Purpose: To estimate the burden of blindness and visual impairment due to cataract in Egbedore Local Government Area of Osun State, Nigeria.

Materials And Methods: Twenty clusters of 60 individuals who were 50 years or older were selected by systematic random sampling from the entire community. A total of 1,183 persons were examined.