Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.
J Pediatr Ophthalmol Strabismus
; 61(1): 59-66, 2024.
Article
en En
| MEDLINE
| ID: mdl-37092661
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 sensori-neural hearing loss and retinal dystrophy with exuberant intraretinal cystoid spaces and cone-rod dysfunction. The older sibling also had amelogenesis imperfecta and neither had nail abnormalities. Genetic analysis identified homozygosity for the pathogenic variant c.2528G>A p.(Gly843Asp) in the PEX1 gene in both siblings. The parents were heterozygous carriers of the variant.CONCLUSIONS:
The authors report a familial case of Heimler syndrome due to biallelic PEX1 pathogenic variants that manifested as macular dystrophy characterized by cone-rod dysfunction and complicated by intraretinal cystoid spaces. Review of the literature shows that ocular phenotype is variable in patients with Heimler syndrome. [J Pediatr Ophthalmol Strabismus. 2024;61(1)59-66.].
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías del Ojo
/
Amelogénesis Imperfecta
/
Pérdida Auditiva Sensorineural
/
Uñas Malformadas
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
J Pediatr Ophthalmol Strabismus
Año:
2024
Tipo del documento:
Article