1. An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration
- Author
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Mario Bifani, Anna Nesti, Maria Michela Rinaldi, Francesca Simonelli, Maria Luisa Cavaliere, Giuseppe de Crecchio, Francesco Testa, Ernesto Rinaldi, Simonelli, Francesca, Testa, Francesco, Nesti, Anna, de Crecchio, Giuseppe, BIFANI SCONOCCHIA, Mario, Cavaliere, Maria Luisa, Rinaldi, Ernesto, Rinaldi, Maria Michela, Simonell, F, Testa, F, Nesti, A, DE CRECCHIO, Giuseppe, Bifani, M, Cavaliere, Ml, Rinaldi, E, and Rinaldi, M. M.
- Subjects
Retinal degeneration ,Adult ,Male ,medicine.medical_specialty ,Pediatrics ,Microcephaly ,Visual acuity ,genetic structures ,Fundus Oculi ,Eye disease ,Genetic counseling ,Visual Acuity ,Short stature ,Choroid Disease ,Ophthalmology ,Intellectual Disability ,medicine ,Myopia ,Humans ,medicine.diagnostic_test ,business.industry ,Retinal Degeneration ,Fundus photography ,Chorioretinitis ,Choroid Diseases ,General Medicine ,Middle Aged ,medicine.disease ,eye diseases ,Pedigree ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Female ,medicine.symptom ,business ,Human - Abstract
Purpose: We studied an Italian family affected by the autosomal dominant form of microcephaly and Chorioretinal degeneration that was characterized by various degrees of clinical expression. Methods: An ophthalmologic examination, including visual acuity, visual field testing, an electroretinogram, and fundus photography, and a neurologic examination, including neurodevelopmental status and neuroimaging studies, were performed for all subjects. Skeletal radiography, chromosome studies, and serologie investigations were also performed. Results: In this family, only two of the six affected members had an association of microcephaly, myopia, and chorioretinal degeneration. The other family members showed microcephaly, slight mental retardation, and short stature, but not chorioretinopathy. Conclusions: The significant finding in members from this dominant pedigree of microcephaly was the association of short stature and high myopia, heretofore seen only in families with recessive microcephaly. These findings could be useful for genetic counseling in the apparently isolated forms of microcephaly with chorioretinopathy. J Pediatr Ophthalmol Strabismus 2002;39:288292.