“Ocular moyamoya” syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II

Bang, Genie M.; Kirmani, Salman; Patton, Alice; Pulido, José S.; Brodsky, Michael C.

doi:10.1016/j.jaapos.2012.09.007

Cited by 5 publications

(2 citation statements)

References 9 publications

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“…However, there is a paucity of studies addressing ophthalmological findings in these patients. Bang and colleagues described “ocular moyamoya” in a 5 year-old boy with MOPD II presenting unilateral cerebral vascular moyamoya disease and ipsilateral iris collateral vessels [18]. There are two cases in the literature documented with abnormal retinal pigmentation, one with a macular scar and the other one with retinal vascular changes [7].…”

Section: Discussionmentioning

confidence: 99%

Ocular characteristics in a variant microcephalic primordial dwarfism type II

2019

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Background Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is a rare disease that is assumed to be caused by a pericentrin (PCNT) gene mutation. Clinical manifestations have been reported in pediatrics and neurology; however, only a few ocular findings have been documented. Case presentation We present three unrelated cases of MOPD II with similar facial features and short stature. Unlike the cases described in the literature, all subjects had normal birth weight and height but their growth was retarded thereafter. In addition to delayed milestones, they have a broad forehead, maxillary protrusion, long peaked nose, high nasal bridge, low-set large ears, extreme reromicrogenia, and normal-sized teeth. These three patients had similar ocular manifestations with the short axial length associated with high hyperopia more than + 9 diopters (D) and macular scarring. The oldest subject was a 20 year-old male without neurological symptoms. One female subject had developed alopecia during the previous 2 years. The other female subject had moyamoya disease, but a genetic study revealed a normal PCNT gene. Conclusion This is the first report of MOPD II focusing on ocular findings, suggesting that macular dystrophy and high hyperopia are the common ocular characteristics of MOPD II. Prompt referral to an ophthalmologist is essential. Although refractive amblyopia can be treated with optical correction, visual prognosis may be poor due to maculopathy.

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Section: Discussionmentioning

confidence: 99%

Ocular characteristics in a variant microcephalic primordial dwarfism type II

2019

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“…We found several reports showing an association between moyamoya and Majewski osteodysplastic primordial dwarfism type 2 (MOPD2) [69][70][71]185], a rare autosomal recessive disorder. Two studies demonstrated this as well.…”

Section: Disease Associationsmentioning

confidence: 99%

Western Moyamoya Phenotype: A Scoping Review

Miller¹,

Unda²,

Holland³

et al. 2021

Cureus

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Moyamoya, a rare angiographic finding, is characterized by chronic and progressive stenosis at the terminal end of the internal carotid artery, followed by collateralization of the cerebral vasculature at the base of the skull. Coined by Suzuki and Takaku in 1969, the term “moyamoya” means a “puff of smoke” in Japanese, a reference to the angiographic appearance of moyamoya collateralization. Moyamoya is most commonly found in East Asian countries, where much governmental and civilian effort has been expended to characterize this unique disease process. However, despite its rarity, the occurrence of moyamoya in Western countries is associated with significant divergence regarding incidence, gender, sex, age at diagnosis, clinical presentation, and outcomes. Here, we attempted to review the Western literature on moyamoya presentation using the PubMed database to characterize the Western phenotype of moyamoya. We were guided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews (PRISMA-ScR). We reviewed papers generated from a search with keywords “moyamoya case report,” those reported from a Western institution, and those reported on a relevant association. Our scoping review demonstrated various clinical associations with moyamoya. Moreover, we summarized the demographic profile and clinical symptomatology, as well as reported disease associations to better elucidate the Western phenotype of moyamoya.

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Neuro-Ophthalmologic Manifestations of Systemic and Intracranial Disease

Brodsky¹

2016

Pediatric Neuro-Ophthalmology

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“Ocular moyamoya” syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II

Cited by 5 publications

References 9 publications

Ocular characteristics in a variant microcephalic primordial dwarfism type II

Ocular characteristics in a variant microcephalic primordial dwarfism type II

Western Moyamoya Phenotype: A Scoping Review

Neuro-Ophthalmologic Manifestations of Systemic and Intracranial Disease

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