Video Experimental Relacionado

Updated: Feb 9, 2026

The Lambda Select cII Mutation Detection System

The Lambda Select cII Mutation Detection System

Published on: April 26, 2018

Megalotálmos anterior asociado con mutación CPAMD8: reporte de un caso

Laura Ninet¹, Mathilde Minot¹, Victor Morel¹

¹L'hôpital Nord, Chemin des Bourrely, APHM, Marseille, France.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

|February 7, 2026

Resumen

Se identificó una rara mutación genética en el gen CPAMD8 en un niño con megalotálmos anterior, una afección que causa anomalías del desarrollo del segmento anterior del ojo.

Área de la Ciencia:

Oftalmología
Genética
Biología del Desarrollo

Sus antecedentes:

El megalotálmos anterior es una rara anomalía congénita bilateral del segmento anterior del ojo.
Las características clínicas incluyen diámetro corneal aumentado, cámara anterior profunda, anomalías del iris y cataratas.
Se han implicado factores genéticos, pero no se comprenden completamente.

Objetivo del estudio:

Investigar la base genética del megalotálmos anterior en un caso pediátrico.
Identificar mutaciones genéticas específicas asociadas con esta rara afección.

Principales métodos:

Examen clínico que incluye biomicroscopía con lámpara de hendidura, gonioscopía y biomicroscopía ultrasónica.
Análisis genético para identificar mutaciones patogénicas en el gen CPAMD8.

Principales resultados:

El paciente presentó características típicas de megalotálmos anterior, incluyendo iridodonesis bilateral, diámetro corneal aumentado, cámara anterior profunda, transiluminación del iris, cataratas subcapsulares posteriores y disgenesia angular con embriotoxon posterior.
El análisis genético reveló una mutación patogénica en el gen CPAMD8.
La presión intraocular y la longitud axial se encontraban dentro de los límites normales, descartando glaucoma juvenil.

Conclusiones:

Este caso resalta la mutación del gen CPAMD8 como un contribuyente genético significativo a la disgenesia del segmento anterior y al megalotálmos anterior.
La investigación adicional sobre las mutaciones del CPAMD8 puede mejorar la comprensión y el diagnóstico de esta rara anomalía del desarrollo.

Palabras clave:

megalotálmos anterior mutación genética CPAMD8 anomalía ocular del desarrollo oftalmología pediátrica disgenesia del segmento anterior

Más Videos Relacionados

Measuring Microbial Mutation Rates with the Fluctuation Assay

Measuring Microbial Mutation Rates with the Fluctuation Assay

Published on: November 28, 2019

'Bioluminescent' Reporter Phage for the Detection of Category A Bacterial Pathogens

'Bioluminescent' Reporter Phage for the Detection of Category A Bacterial Pathogens

Published on: July 8, 2011

Videos de Conceptos Relacionados

Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Viral Mutations

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...

Mutation, Gene Flow, and Genetic Drift

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).

Data Reporting and Recording

Data Reporting and Recording

Reporting and recording are crucial in data documentation. The timely, thorough, and accurate documentation of facts is essential when recording patient data. Failure to record findings during an assessment or interpretation of a problem will result in loss of information and make the patient document unreliable. The reader is left with general impressions if the information is not specific. A recording is documenting data of the individual's health information in a traceable, secure, and...

Point and Frameshift Mutations

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...