Horizontal Gaze Palsy With Progressive Scoliosis and Severe Keratoconus With a Compound Heterozygous Mutation in ROBO3.

The authors report the case of a child with horizontal gaze palsy with progressive scoliosis and keratoconus. ROBO3 analysis identified compound heterozygous mutations. Keratoconus surgical approach resulted in visual acuity improvement in both eyes. The previously unreported occurrence of keratocon...

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Bibliographic Details
Main Author: Pina, S (author)
Other Authors: Pedrosa, C (author), Feijóo, B (author), Machado, S (author), Prieto, I (author), Costa, C (author), Santos, MJ (author)
Format: article
Language:eng
Published: 2016
Subjects:
Ocular Motility Disorders
Scoliosis
Developmental Disabilities
Perturbações do desenvolvimento
Escoliose
Perturbações da motilidade ocular
Online Access:http://hdl.handle.net/10400.10/1760
Country:Portugal
Oai:oai:repositorio.hff.min-saude.pt:10400.10/1760
Description
Summary:The authors report the case of a child with horizontal gaze palsy with progressive scoliosis and keratoconus. ROBO3 analysis identified compound heterozygous mutations. Keratoconus surgical approach resulted in visual acuity improvement in both eyes. The previously unreported occurrence of keratoconus with horizontal gaze palsy with progressive scoliosis suggests that ophthalmologic assessment should search for signs of this ectasia in these patients.

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