Horizontal gaze palsy with progressive scoliosis.
Journal
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
ISSN: 1528-3933
Titre abrégé: J AAPOS
Pays: United States
ID NLM: 9710011
Informations de publication
Date de publication:
Feb 2024
Feb 2024
Historique:
received:
26
05
2023
revised:
12
09
2023
accepted:
30
09
2023
medline:
18
3
2024
pubmed:
26
1
2024
entrez:
25
1
2024
Statut:
ppublish
Résumé
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive condition characterized by absence of abduction and adduction movements with intact vertical eye movements and progressive scoliosis. Patients usually present by mid-childhood with complaints of progressive scoliosis. The clinical diagnosis of HGPPS can be further confirmed by the ROBO3 gene mutation on chromosome number 11. We present 2 Indian siblings who were incidentally diagnosed with HGPPS with synergistic convergence on regular eye examination; diagnosis was confirmed by radiological and genetic testing.
Identifiants
pubmed: 38272175
pii: S1091-8531(24)00022-3
doi: 10.1016/j.jaapos.2023.09.012
pii:
doi:
Substances chimiques
Receptors, Immunologic
0
Receptors, Cell Surface
0
ROBO3 protein, human
0
Roundabout Proteins
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
103822Informations de copyright
Copyright © 2024 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.