X-linked congenital stationary night blindness is almost always associated with myopia. We have reviewed all previously reported pedigrees and have found only two with patients without myopia. A recently proposed classification of night blindness includes a complete type associated with myopia and an incomplete type in which both hyperopia and myopia were found. Complete and incomplete types did not occur within the same pedigree. We report on a family in which three of the five affected members had hyperopia and could be classified as the incomplete type and in which a fourth member with myopia was more consistent with the complete type. The lack of myopia in three members of our pedigree can be explained by two hypotheses: crossing over of the night blindness and myopic genes on the X-chromosome, or an autosomal dominant hyperopic gene that masks the myopic gene. The data from our family support the first of these two hypotheses.
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http://dx.doi.org/10.1001/archopht.1988.01060140581027 | DOI Listing |
Turk J Ophthalmol
January 2025
İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Ophthalmology, İstanbul, Türkiye.
Jeune syndrome (JS), first described by Jeune as asphyxiating thoracic dystrophy, is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities and variable renal, hepatic, pancreatic, and ocular complications. Approximately 1 in every 100,000 to 130,000 babies is born with JS. Most patients with JS have respiratory distress due to inadequate lung development and many lose their lives due to respiratory failure.
View Article and Find Full Text PDFMol Cell Probes
January 2025
Institute of Molecular and Clinical Ophthalmology Basel, Mittlere Strasse 91, Basel, CH-4031, Switzerland. Electronic address:
The rapid advancements in the field of genetics have significantly propelled the development of gene therapies, paving the way for innovative treatments of various hereditary disorders. This review focuses on the genetics of ophthalmologic conditions, highlighting the currently approved ophthalmic gene therapy and exploring emerging therapeutic strategies under development. Inherited retinal dystrophies represent a heterogeneous group of genetic disorders that manifest across a broad spectrum from infancy to late middle age.
View Article and Find Full Text PDFArch Soc Esp Oftalmol (Engl Ed)
December 2024
Facultad de Medicina, Universidad El Bosque, Bogotá, Colombia. Electronic address:
Objective: Identify the prevalence of ocular manifestations due to vitamin A in children.
Methods: The systematic search was carried out in September 2022. Observational studies with populations between 0-18 years old, who had ocular manifestations due to vitamin A deficiency, were included.
Life Sci Alliance
March 2025
Retina and Optic Nerve Research Laboratory, Dalhousie University, Halifax, Canada
Synaptic transmission from photoreceptors to ON-bipolar cells (BCs) requires the postsynaptic metabotropic glutamate receptor mGluR6, located at BC dendritic tips. Binding of the neurotransmitter glutamate initiates G protein signaling that regulates the TRPM1 transduction channel. mGluR6 also interacts with presynaptic ELFN adhesion proteins, and these interactions are important for mGluR6 synaptic localization.
View Article and Find Full Text PDFDoc Ophthalmol
December 2024
Department of Ophthalmology, School of Medicine, the First Affiliated Hospital of Xiamen University, XiamenFujian Province, 361005, China.
Purpose: To report a novel hemizygous nonsense variant in the CACNA1F gene associated with congenital stationary night blindness (CSNB) in a pediatric patient, emphasizing the utility of portable electroretinography (ERG) and genetic testing in diagnosing unexplained visual impairments.
Methods: The patient, a 5-year-old male, underwent comprehensive clinical evaluation, including detailed anterior segment and fundus examinations, full-field electroretinogram (ffERG) using a RETeval™ portable device, and whole exome sequencing (WES) to elucidate the genetic basis of his visual impairment. Structural modeling of the mutated protein was performed using SWISS-MODEL and PYMOL.
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