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Mariaelena Filippelli, Rosa Boccia, Raffaella Colucci, Valentina Di Iorio, Anna Nesti, Maria Rosaria Barillari, Nicola Brunetti Pierri, Francesco Testa, Sandro Banfi, Francesca Simonelli; A new syndromic form of retinal degeneration due to mutations in the PCYT1A gene. Invest. Ophthalmol. Vis. Sci. 2016;57(12):128.
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© 2017 Association for Research in Vision and Ophthalmology.
Mutations in PCYT1A have recently been found in a few patients presenting with two apparently different phenotypes: one characterized by the association of spondylometaphyseal dysplasia and cone-rod dystrophy (SMD-CRD) and the other with congenital lipodystrophy, severe fatty liver disease, and reduced HDL cholesterol but without ophthalmic or skeletal involvement. Here, we present a 4-year-old Italian male harboring 2 mutations in the PCYT1A gene and presenting with retinal degeneration, low HDL cholesterol, and increased liver enzyme levels (AST and ALT) without evidence of skeletal involvement.
The patient underwent ophthalmological, genetic, pediatric and audiometric evaluations. The ophthalmological examination included best corrected visual acuity (BCVA), color vision testing, ocular motility examination, retinography, optical coherence tomography (SD-OCT) and standard electroretinogram (ERG). Next Generation Sequencing (NGS) for genes associated with inherited retinal diseases was performed on DNA extracted from blood.
The disease onset was referred at the age of 2 years with night-blindness and reduced visual acuity. At the age of 4 years the patient showed a BCVA 20/200 in both eyes, normal color vision and ocular motility. Fundus examination revealed widespread “salt and pepper” retinal degeneration. OCT examination showed reduced macular thickness with retinal pigment epithelium dystrophy. ERG recordings revealed scotopic responses below noise level and reduced photopic tracings. He was non-dysmorphic (normal height, weight and head circumference); audiometric evaluation was also normal. Plasma biochemistry revealed low HDL cholesterol levels, increased AST and ALT. A targeted NGS analysis for 150 genes responsible for inherited retinal dystrophies showed two mutations in the PCYT1A gene: a missense mutation (p.A93T) and a splice site mutation (c.897+1G>A).
This is the first case in literature of a patient with mutations in the gene PCYT1A displaying rod-cone retinal degeneration, reduced HDL cholesterol, signs of fatty liver disease without skeletal involvement or lipodystrophy. Therefore, the phenotype of our patient includes a combination of features of the two apparently distinct disorders that were previously associated with PCYT1A mutations. So, our findings expands the spectrum of phenotypic manifestations reported so far with PCYT1A mutations.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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