Ocular findings in Angelman's (Happy Puppet) syndrome

Dickinson, A J; Fielder, A R; Young, Ian; Duckett, D P

doi:10.3109/13816819009012942

Cited by 22 publications

(20 citation statements)

References 17 publications

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“…10,11,12,13 Low hyperopia is prevalent in the normal population and is not considered pathological. 17 We found only 1 patient with high myopia, which is similar to the frequency observed by other authors.…”

Section: Refractionmentioning

confidence: 99%

“…7,8 Ophthalmic alterations seem to be infrequent in AS: strabismus, nystagmus, refractive errors, amblyopia, 9 iris and choroidal hypopigmentation, optic nerve atrophy or optic disk pallor, retinochoroidal atrophy ptosis, and keratoconus have been reported. [10][11][12] However, among the ophthalmic features, only strabismus and iris hypopigmentation, with a frequency of 20-80%, are considered among the diagnostic criteria of AS. 2 This study aims to determine the nature and prevalence of ophthalmologic abnormalities in a group of AS patients and their distribution among the genetic subtypes.…”

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confidence: 99%

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Ophthalmic findings in Angelman syndrome

Michieletto

Bonanni

Pensiero

2011

Journal of American Association for Pediatric Ophthalmology and

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Section: Refractionmentioning

confidence: 99%

mentioning

confidence: 99%

Ophthalmic findings in Angelman syndrome

Michieletto

Bonanni

Pensiero

2011

Journal of American Association for Pediatric Ophthalmology and

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“…Common ocular findings include iris hypopigmentation (79%), choroidal hypopigmentation (70%), esotropia or exotropia (44%), and refractive errors, usually hyperopia 7,8. Our patient had more severe hyperopia than that reported in Angelman syndrome patients 6. Dickinson et al6 report 2 children who had 4.00 D of hyperopia.…”

Section: Discussionmentioning

confidence: 54%

“…A few reports describe the ocular manifestations of this syndrome 6–8. Consistent systemic findings in Angelman syndrome patients are mental retardation, speech impairment, ataxia, frequent spontaneous laughter with happy demeanor, excitability, hand flapping, hypermotoric behavior, short attention span, and seizures 8.…”

Section: Discussionmentioning

confidence: 96%

Refractive lens exchange with intraocular lens implantation in hyperopic eyes of a patient with Angelman syndrome

Trivedi

Wilson

2010

Journal of Cataract and Refractive Surgery

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We describe a patient with Angelman syndrome with severe developmental delay who was visually impaired by uncorrected high hyperopia and poor control of accommodation. Refractive lens exchange with intraocular lens implantation was performed in both eyes when the patient was 22 years of age. Satisfactory anatomical and functional outcomes were achieved and maintained during 3 years of follow-up. Refractive lens exchange can be useful in patients with severe neurobehavioral disorders in the presence of high refractive error and poor accommodative control.Refractive surgery is now performed more frequently at a younger age in patients with severe anisometropia or bilateral high ametropia resistant to conventional therapy using spectacles or contact lenses.1 -4 Although corneal refractive surgery is less invasive than intraocular lens (IOL) implantation, it is not suitable for correcting extreme refractive errors. 4 In eyes with these errors, phakic IOL (pIOL) implantation or refractive lens exchange (RLE) with IOL implantation can be useful alternatives. In the United States, there are no Food and Drug Administration-approved pIOLs for hyperopic correction. We report the 3-year postoperative outcome of RLE with IOL implantation in both eyes of a patient with Angelman syndrome with severe developmental delay and uncorrected high hyperopia with poor accommodative control. CASE REPORTIn 1992, a patient presented to us with a complaint about deviation of his eyes from his mother. The diagnosis was Angelman syndrome (Figure 1) with developmental delay, spontaneous laughter, excitability, hand flapping, and a short attention span. The vision was recorded as central and steady fixation in each eye. Refraction at the time of strabismus surgery for exotropia revealed marked hyperopia of +7.5 diopters (D) in both eyes. During a visit in 2006, the patient's mother stated that use of spectacles was becoming more and more difficult. Each new pair of glasses was broken by the patient despite attention from her and the caregivers. During the previous year, the mother had spent approximately $2500 on Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final citable form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.Financial Disclosure: Neither author has a financial or proprietary interest in any material or method mentioned. .) was performed in the right eye, with a refractive aim of −1.00 D. The posterior capsule was left intact in both eyes at the time of surgery. At the 3-year follow-up visit, the patient had central and steady fixation. Visually, the patient could manage his day-to-day activities. The mother noted a marked improvement in his q...

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“…Roy and colleagues (1992) proposed that the three patients described by Creel et al (1986) had albinism and PWS. Hittner and coworkers (1982) remarked that hypopigmentation in PWS is a manifestation of reduced neural-crest derivatives rather than a primary defect of neural ectoderm origin (see also Dickinson et al 1990). The subset of melanocytes that form Case Report 635 Saitoh et al 1997).…”

Section: Discussionmentioning

confidence: 99%

Visual evoked potential evidence of albino‐like chiasmal misrouting in a patient with Angelman syndrome with no ocular features of albinism

Thompson

Kriss

Cottrell

et al. 1999

Develop Med Child Neuro

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An 8‐month‐old boy with global developmental delay, including visual and hearing inattention, was examined in the ophthalmic clinic. Monocular flash visual evoked potentials demonstrated a crossed asymmetry in scalp distribution, a feature considered to be pathognomic of albinism. Remarkably a foveal reflex was noted in each eye and this patient did not have nystagmus, iris transillumination, nor conspicuously pale fundi. The optic discs appeared normal. He was noted to have very fair skin and hair, with a small head and flat occiput. Cytogenetic studies demonstrated a microdeletion of the maternal chromosome 15q11–q13, and he was diagnosed with Angelman syndrome.

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Ocular findings in Angelman's (Happy Puppet) syndrome

Cited by 22 publications

References 17 publications

Ophthalmic findings in Angelman syndrome

Ophthalmic findings in Angelman syndrome

Refractive lens exchange with intraocular lens implantation in hyperopic eyes of a patient with Angelman syndrome

Visual evoked potential evidence of albino‐like chiasmal misrouting in a patient with Angelman syndrome with no ocular features of albinism

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