Publications by authors named "M J DeBenedictis"
Purpose: Best vitelliform macular dystrophy is an inherited macular dystrophy associated with over 250 pathogenic variants of the Bestrophin-1 ( BEST1 ) gene. Although several types of lesions of best vitelliform macular dystrophy are well-described, reports of phenotypic variations associated with rare genetic variants are limited.
Methods: This was a retrospective case series performed in 2021 at a tertiary eye care center.
Background: The major facilitator superfamily domain-containing protein 8 (MFSD8) pathogenic variants are classically associated with autosomal recessive neuronal ceroid lipofuscinosis-7. Case reports have recently demonstrated an association of MFSD8 variants causing autosomal recessive macular dystrophy with central cone involvement without neurologic sequelae. We report a patient with a novel ocular phenotype associated with MFSD8 pathogenic variants causing macular dystrophy without systemic findings.
View Article and Find Full Text PDFPurpose: To describe the response to long-term topical dorzolamide treatment in patients with juvenile X-linked retinoschisis and cystic-like foveal lesions.
Methods: This was a retrospective interventional case series that included 18 eyes of 10 patients with genetically confirmed juvenile X-linked retinoschisis examined at the Cleveland Clinic Cole Eye Institute, a tertiary referral center, between 2005 and 2021. Patients were treated with topical 2% dorzolamide two to three times daily in both eyes.
Article Synopsis
- - Knobloch syndrome is a genetic condition caused by mutations in the COL18A1 gene, leading to issues like retinopathy and defects in the occipital area of the skull and brain.
- - The study focuses on three siblings from consanguineous parents, two of whom were confirmed to have Knobloch syndrome due to a specific genetic mutation, despite lacking classic symptoms like occipital defects.
- - Accurate diagnosis can be challenging without typical symptoms. It emphasizes the importance of thorough medical history, clinical examination, and genetic testing for identifying Knobloch syndrome in atypical cases.
Purpose: To report on two rare and one novel pathogenic variants in two patients associated with a previously uncharacterized phenotype of retinal degeneration.
Methods: Case report.
Results: A 4 year-old and a 19 year-old female presented with reduced vision and bilateral bull's eye maculopathy.