Ocular characteristics in a variant microcephalic primordial dwarfism type II

Autor: Fu Chin Huang, Wan Ju Chen, Min Hsiu Shih
Jazyk: angličtina
Rok vydání: 2019
Předmět:
0301 basic medicine
Male
Mydriatics
genetic structures
Visual Acuity
Case Report
Gene mutation
Macular Degeneration
0302 clinical medicine
PCNT
Birth Weight
Moyamoya disease
lcsh:RJ1-570
Eye Diseases
Hereditary
Macular dystrophy
Phenotype
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II)
Hyperopia
Child
Preschool
Microcephaly
Female
medicine.symptom
Moyamoya Disease
Tomography
Optical Coherence
Macular scar
medicine.medical_specialty
Adolescent
Fundus Oculi
Dwarfism
Osteochondrodysplasias
Refraction
Ocular
Short stature
Nystagmus
Pathologic
03 medical and health sciences
Young Adult
Ophthalmology
medicine
Humans
Antigens
Pericentrin (PCNT) gene
business.industry
Astigmatism
lcsh:Pediatrics
medicine.disease
eye diseases
030104 developmental biology
Pediatrics
Perinatology and Child Health
Mutation
Maculopathy
Exotropia
business
Primordial dwarfism
030217 neurology & neurosurgery
Rare disease
Zdroj: BMC Pediatrics, Vol 19, Iss 1, Pp 1-4 (2019)
BMC Pediatrics
ISSN: 1471-2431
DOI: 10.1186/s12887-019-1685-2
Popis: 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.
Databáze: OpenAIRE
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