The association of refractive error, strabismus, and amblyopia with congenital ptosis

Srinagesh, Vishwanath; Simon, John W.; Meyer, Dale R.; Zobal-Ratner, Jitka

doi:10.1016/j.jaapos.2011.08.006

Cited by 39 publications

(37 citation statements)

References 11 publications

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“…1,2 Among patients with childhood ptosis, however, the incidence of amblyopia has been reported to be higher than that in the general population. 3–11 Although this disparity is thought to be the result of an increased prevalence of strabismus, significant refractive error, and eyelid occlusion of the visual axis, none of the prior reports are population-based. The purpose of this study is to report the prevalence and causes of amblyopia among a cohort of 107 children diagnosed with ptosis over a 40-year period while residing in Olmsted County, Minnesota.…”

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confidence: 99%

Amblyopia in Childhood Eyelid Ptosis

Griepentrog

Diehl

Mohney

2013

American Journal of Ophthalmology

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Purpose To report the prevalence and causes of amblyopia among children with ptosis diagnosed in a well-defined population over a 40-year period. Design Retrospective, population-based cohort study. Methods We retrospectively reviewed the charts of one hundred and seven patients (< 19 years) for the prevalence and causes of amblyopia who were diagnosed with childhood ptosis as residents of Olmsted County, Minnesota, from January 1, 1965, through December 31, 2004. Results Amblyopia was diagnosed in 16 (14.9%) of the 107 patients with childhood ptosis. Fourteen (14.6%) of 96 patients diagnosed with a congenital form of ptosis demonstrated amblyopia. Twelve (14.8%) of the 81 patients diagnosed with simple congenital ptosis had amblyopia, 7 (8.6%) of which were due solely to eyelid occlusion of the visual axis. The causes of amblyopia in the remaining 5 patients were due to significant refractive error in 3 patients and strabismus in 2 patients. Conclusions Amblyopia occurred in 1 in 7 children diagnosed with ptosis in this population-based cohort. Approximately half of those with amblyopia, or less than 10% of all patients, were due solely to eyelid occlusion of the visual axis.

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confidence: 99%

Amblyopia in Childhood Eyelid Ptosis

Griepentrog

Diehl

Mohney

2013

American Journal of Ophthalmology

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“…1,3 Indeed, while vertical deviations were noted in two simple congental ptosis patients with horizontal strabismus in this cohort, there were no cases of isolated vertical deviation noted in the study. Horizontal strabismus occurred in 9.9% of the 81 patients with simple congenital ptosis.…”

Section: Discussionmentioning

confidence: 45%

“…This rate falls at the low end of the range of previous non population-based estimates (10.3-32%) of strabismus associated with congenital ptosis. 1-3 …”

Section: Discussionmentioning

confidence: 99%

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Strabismus in Childhood Eyelid Ptosis

Griepentrog

Mohney

2014

American Journal of Ophthalmology

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Purpose To report the prevalence and causes of strabismus among children with eyelid ptosis diagnosed in a well-defined population over a 40-year period. Design Retrospective, population-based cohort study. Methods We retrospectively reviewed the charts of one hundred and seven patients (< 19 years) for the prevalence and causes of strabismus who were diagnosed with childhood eyelid ptosis as residents of Olmsted County, Minnesota, from January 1, 1965, through December 31, 2004. Results Strabismus was diagnosed in 20 (18.7%) of the 107 patients with childhood ptosis. Eight (9.9%) of the 81 patients diagnosed with simple congenital ptosis had strabismus, of which there were 4 (4.9%) cases of exotropia and 4 (4.9%) cases of esotropia. There were no cases of isolated vertical deviation. Conclusions Strabismus occurred in 1 in 5 children diagnosed with any form of childhood ptosis in this population-based cohort. Strabismus affected approximately 1 in 10 patients diagnosed with simple congenital ptosis, with a predominance of isolated horizontal deviations equally divided between esotropia and exotropia.

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“…Ptosis-related amblyopia is typically not occlusive(15, 16) but rather is usually associated with anisometropia and/or esotropia. (17) Moreover, amblyopia related to ptosis usually occurs in the setting of monocular ptosis rather than binocular ptosis(15) and is not typically to the degree of light perception or hand motion vision.…”

Section: Discussionmentioning

confidence: 99%

Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2

Khan

Almutlaq

Oystreck

et al. 2014

Ophthalmic Genetics

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INTRODUCTION Congenital fibrosis of the extraocular muscles type 2 (CFEOM2) is a distinct non-syndromic form of congenital incomitant strabismus secondary to orbital dysinnervation from recessive mutations in the gene PHOX2A. The phenotype includes bilateral ptosis, very large angle exotropia, ophthalmoplegia, and poorly-reactive pupils. Other than amblyopia, afferent visual dysfunction has not been considered part of CFEOM2; however, we have repeatedly observed non-amblyopic subnormal vision in affected patients. The purpose of this study is to document this recurrent feature of the phenotype. METHODS Retrospective case series (2002–2012). RESULTS Eighteen patients (four families) were identified; all affected individuals had confirmed homozygous recessive PHOX2A mutations except one individual for whom genetic testing was not done because of multiple genetically confirmed family members. Age at assessment ranged from 5–62 years old (median 10 years old). All patients had decreased best-corrected visual acuity not completely explainable by amblyopia in both the preferred and non-preferred eye. In those patients who had further ancillary testing, visual fields (five patients) and electroretinography (10 patients) confirmed abnormalities not ascribable to amblyopia. CONCLUSIONS In addition to a distinct from of congenital incomitant strabismus, the phenotype of CFEOM2 includes subnormal vision consistent with retinal dysfunction. This could be the direct result of PHOX2A mutations or a secondary effect of orbital dysinnervation.

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The association of refractive error, strabismus, and amblyopia with congenital ptosis

Cited by 39 publications

References 11 publications

Amblyopia in Childhood Eyelid Ptosis

Amblyopia in Childhood Eyelid Ptosis

Strabismus in Childhood Eyelid Ptosis

Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2

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