Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings
Sign Up to like & getrecommendations! Published in 2021 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2021.1923033
Abstract: ABSTRACT Background Heimler syndrome (OMIM number #234580 and #616617) is a rare condition comprising sensorineural hearing loss (SNHL), nail abnormalities and amelogenesis imperfecta. In addition, patients with this syndrome can have retinal dystrophies. Heimler syndrome… read more here.
Keywords: syndrome caused; heimler syndrome; caused pex1; two siblings ... See more keywords
Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of pediatric ophthalmology and strabismus"
DOI: 10.3928/01913913-20230220-01
Abstract: PURPOSE To report two new cases with confirmed diagnosis of Heimler syndrome and describe their systemic and ophthalmic phenotype and visual rehabilitation. METHODS Retrospective review of medical records. RESULTS Both siblings were diagnosed as having… read more here.
Keywords: heimler syndrome; ophthalmic manifestations; manifestations heimler; two siblings ... See more keywords