Horizontal gaze palsy with progressive scoliosis
Copyright © 2024 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved..
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.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2024 |
|---|---|
| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:28 |
|---|---|
| Enthalten in: |
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 28(2024), 1 vom: 01. Feb., Seite 103822 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Dhiman, Rebika [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Case Reports |
|---|
| Anmerkungen: |
Date Completed 18.03.2024 Date Revised 18.03.2024 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1016/j.jaapos.2023.09.012 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM367625997 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM367625997 | ||
| 003 | DE-627 | ||
| 005 | 20240318234131.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 240126s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.jaapos.2023.09.012 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1334.xml |
| 035 | |a (DE-627)NLM367625997 | ||
| 035 | |a (NLM)38272175 | ||
| 035 | |a (PII)S1091-8531(24)00022-3 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Dhiman, Rebika |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Horizontal gaze palsy with progressive scoliosis |
| 264 | 1 | |c 2024 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 18.03.2024 | ||
| 500 | |a Date Revised 18.03.2024 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2024 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved. | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Case Reports | |
| 650 | 7 | |a Receptors, Immunologic |2 NLM | |
| 650 | 7 | |a Receptors, Cell Surface |2 NLM | |
| 650 | 7 | |a ROBO3 protein, human |2 NLM | |
| 650 | 7 | |a Roundabout Proteins |2 NLM | |
| 700 | 1 | |a Gandepalli, Lavanya |e verfasserin |4 aut | |
| 700 | 1 | |a Rathod, Aishwarya |e verfasserin |4 aut | |
| 700 | 1 | |a Badkhane, Shruti |e verfasserin |4 aut | |
| 700 | 1 | |a Phuljhele, Swati |e verfasserin |4 aut | |
| 700 | 1 | |a Saxena, Rohit |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus |d 1997 |g 28(2024), 1 vom: 01. Feb., Seite 103822 |w (DE-627)NLM096493356 |x 1528-3933 |7 nnns |
| 773 | 1 | 8 | |g volume:28 |g year:2024 |g number:1 |g day:01 |g month:02 |g pages:103822 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1016/j.jaapos.2023.09.012 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 28 |j 2024 |e 1 |b 01 |c 02 |h 103822 | ||