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- Title
Keratoconus in a patient with B3GALT6‐related disorder.
- Authors
Descartes, Maria; Melenevsky, Yulia V.; Rudy, Natasha; Smith, Kirstin; Callaway, Kaitlin; Parker, Jack S.
- Abstract
At age 37 years, the patient underwent Bowman layer transplantation in one eye in an attempt to arrest the progression of his keratoconus. As the patient fulfilled the clinical diagnostic criteria and his phenotype is consistent with that described in other patients with spEDS-B3GALT6, we concluded the exome sequencing results to be informative and the variants likely to be disease causing. In addition, our patient is the first reported case with keratoconus in patients with this condition, therefore, a novel phenotypic finding.
- Subjects
KERATOCONUS; LUMBAR pain
- Publication
Clinical Genetics, 2021, Vol 99, Issue 6, p849
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.13940