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CHARGE syndrome without colobomas: Ophthalmic findings.
- Source :
-
American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2020 Sep; Vol. 184 (3), pp. 611-617. Date of Electronic Publication: 2020 Sep 10. - Publication Year :
- 2020
-
Abstract
- To report ophthalmic findings of patients without colobomas, and with a clinical and molecular diagnosis of CHARGE Syndrome. Retrospective study of ophthalmic findings in 67 CHARGE patients-clinically confirmed diagnosis with positive CHD7 mutation-seen in the Ophthalmology department of Cincinnati Children's Hospital Medical Center between January 1, 2008 through September 25, 2018. Criteria for inclusion in this study was absence of any form of a coloboma in either eye. In our cohort, all patients had a positive CHD7 mutation, in addition to a clinical diagnosis. 19.4% (13/67) of CHARGE patients did not have a coloboma in either eye. 69.2% (9/13) had strabismus, 76.9% (10/13) had a refractive error that warranted refractive correction, 23.1% (3/13) had amblyopia, 38.5% (5/13) had nasolacrimal duct obstruction, 30.8% (4/13) had dry eye syndrome and exposure keratopathy, 15.4% (2/13) had ptosis, 15.4% (2/13) had blepharitis, 15.4% (2/13) had Cortical Visual Impairment, 7.7% (1/13) of patients had optic nerve drusen, 7.7% (1/13) had Marcus Gunn Jaw Winking, and 7.7% (1/13) with an eyelid nevus. There are numerous ophthalmic findings in individuals with CHARGE Syndrome without colobomas. No study to date has evaluated the ophthalmic findings in CHD7 positive CHARGE patients without colobomas. These findings need to be assessed and treated to ensure optimal vision in the CHARGE patient population. Absence of coloboma does not rule out a diagnosis of CHARGE syndrome, and if there is a clinical suspicion, clinical confirmation then genetic testing would be warranted.<br /> (© 2020 Wiley Periodicals LLC.)
- Subjects :
- Adolescent
Blepharoptosis complications
Blepharoptosis pathology
CHARGE Syndrome complications
CHARGE Syndrome pathology
Child
Child, Preschool
Coloboma complications
Coloboma pathology
DNA Helicases genetics
DNA-Binding Proteins genetics
Female
Heart Defects, Congenital complications
Heart Defects, Congenital pathology
Humans
Infant
Jaw Abnormalities complications
Jaw Abnormalities pathology
Lacrimal Duct Obstruction complications
Lacrimal Duct Obstruction pathology
Male
Mutation genetics
Nasolacrimal Duct metabolism
Nasolacrimal Duct pathology
Nervous System Diseases complications
Nervous System Diseases pathology
Optic Nerve metabolism
Optic Nerve pathology
Blepharoptosis genetics
CHARGE Syndrome genetics
Coloboma genetics
Heart Defects, Congenital genetics
Jaw Abnormalities genetics
Lacrimal Duct Obstruction genetics
Nervous System Diseases genetics
Reflex, Abnormal genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4876
- Volume :
- 184
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part C, Seminars in medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 32914532
- Full Text :
- https://doi.org/10.1002/ajmg.c.31840