Track topics on Twitter Track topics that are important to you
: Vitelliform Macular Dystrophy is an inherited autosomal dominant disease with variable expressivity, caused by a mutation in the gene. We report a family with variable expressivity and incomplete penetrance in its members.: A Mexican family was studied. It was comprised of six individuals (father, mother, and four children). A clinical history was taken, and a complete ophthalmological examination (distance best-corrected visual acuity, slit-lamp biomicroscopy, optical coherence tomography, fundus autofluorescence, optical coherence tomography angiography, and electrophysiological studies) was performed in each individual.: Two members presented low visual acuity and vitelliform lesions in different stages in the ocular fundus. The assessment suggested a diagnosis of Vitelliform Macular Dystrophy. Genetic analysis was performed by sequencing of exons 2, 4, 5, 7, 8, and 9 of the gene. All patients were carriers of the A variant allele of SNP rs1109748 located in exon 2 (c.219 C > A; p.Ile73=). Also, a missense mutation was identified in exon 7 in the mother and two children (c.851A>G; p.Tyr284Cys). The mother has a normal visual acuity, no abnormal findings in the ophthalmological examination and an abnormal electrooculogram, exhibiting incomplete penetrance.: This represents one of the few cases of Vitelliform Macular Dystrophy with incomplete penetrance, being the first in our country and Latin America, and with our reported mutation with this characteristic.
This article was published in the following journal.
Name: Ophthalmic genetics
Best disease, also known as Best vitelliform macular dystrophy, is an autosomal dominant form of macular degeneration. Here, we have generated an induced pluripotent stem cell (iPSC) line derived from...
BEST1 is a Ca-activated Cl channel predominantly expressed in retinal pigment epithelium (RPE), and over 250 genetic mutations in the BEST1 gene have been identified to cause retinal degenerative diso...
The BEST1 gene product bestrophin-1, a Ca -dependent anion channel, interacts with Ca 1.3 Ca channels in the retinal pigment epithelium (RPE). BEST1 mutations lead to Best vitelliform macular dystroph...
To describe outer retinal structure in Best vitelliform macular dystrophy (BVMD) patients using spectral-domain optical coherence tomography (SD-OCT) and correlate these RESULTS with best corrected vi...
Adult vitelliform lesions (AVL) are associated with age related macular degeneration (AMD) and subretinal drusenoid deposits (SRDD). We evaluated the natural course of AVL, assessing the influence of ...
OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II. Clinically evaluate SMS patients with unusua...
In a separate protocol the Department of Genetic Medicine is proposing to carry out a study using gene transfer to treat the central nervous system (CNS) manifestations of late infantile n...
OBJECTIVES: I. Collect data regarding the natural history of hereditary hemorrhagic telangiectasia (HHT). II. Establish genotype-phenotype correlations in HHT. III. Create a database o...
The primary aim of the study is to assess the genotype - phenotype correlations of the CNS manifestations of late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal, rare, recessive...
The autosomal dominant spinocerebellar degenerations are a highly heterogeneous, clinically and genetically, group of rare diseases and of severe evolution. So far, the responsible genes f...
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The totality of characteristics of reproductive structure, functions, PHENOTYPE, and GENOTYPE, differentiating the MALE from the FEMALE organism.
Autosomal dominant hereditary maculopathy with childhood-onset accumulation of LIPOFUSION in RETINAL PIGMENT EPITHELIUM. Affected individuals develop progressive central acuity loss, and distorted vision (METAMORPHOPSIA). It is associated with mutations in bestrophin, a chloride channel.
A state of intersex or sexual ambiguity, involving the GENOTYPE, the GONADS, the reproductive tract, and/or the external GENITALIA or PHENOTYPE. This concept covers TRUE HERMAPHRODITISM and PSEUDOHERMAPHRODITISM. True hermaphrodites are rare and they possess gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. Pseudohermaphrodites possess gonadal tissue of one sex but exhibit external phenotype of the opposite sex.
A protein family characterized by a highly conserved N-terminus and four to six transmembrane helices; they function as bicarbonate permeable, calcium-activated chloride channels. Bestrophin-1 (BEST-1) and bestrophin-2 are highly expressed in human RETINAL PIGMENT EPITHELIUM cells and mutations in the BEST-1 gene are associated with VITELLIFORM MACULAR DYSTROPHY, TYPE 2.
Muscular dystrophy is a group of degenerative inherited disorders causing muscle weakness and loss of muscle tissue. The different types are Becker muscular dystrophy, Duchenne muscular dystrophy, Emery-Dreifuss muscular dystrophy, Facioscapulohumeral mu...
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...