ABSTRACT
OBJETIVO: Reportar un caso familiar de vitreorretinopatía exudativa familiar (VREF), con herencia autosómica dominante, identificado por el análisis molecular de FZD4. CASO CLÍNICO: El caso índice tiene 13 años y consulta por baja visión. Al examen de fondo de ojo se demuestran zonas periféricas avasculares y tracción macular, diagnosticándose VREF. El análisis molecular de FZD4 demuestra una mutación patológica en el paciente y en su madre asintomática. DISCUSIÓN: El presente caso familiar fue identificado mediante el análisis molecular de FZD4, y demuestra la importancia de explorar a los familiares de primer grado en los casos esporádicos de VREF
OBJECTIVE: To report a familial case of Familial Exudative Vitreoretinopathy (FEVR) with an autosomal dominant inheritance pattern identified with the molecular analysis of FZD4. CASE REPORT: The proband is a 13 year-old boy who consulted for low vision. Fundus examination revealed a peripheral avascular zone and macular dragging, consistent with FEVR. Molecular analysis demonstrated a mutation of FZD4 in DNA from both the patient and his asymptomatic mother. DISCUSSION: This familial case was identified with the molecular analysis of FZD4 and shows the importance to explore first degree relatives in a sporadic FEVR case
Subject(s)
Humans , Vitreoretinopathy, Proliferative/genetics , Wet Macular Degeneration/genetics , Eye Diseases, Hereditary/genetics , Retinal Vessels/physiopathology , Chromosome Aberrations , Fluorescein AngiographyABSTRACT
OBJECTIVE: To report a familial case of Familial Exudative Vitreoretinopathy (FEVR) with an autosomal dominant inheritance pattern identified with the molecular analysis of FZD4. CASE REPORT: The proband is a 13 year-old boy who consulted for low vision. Fundus examination revealed a peripheral avascular zone and macular dragging, consistent with FEVR. Molecular analysis demonstrated a mutation of FZD4 in DNA from both the patient and his asymptomatic mother. DISCUSSION: This familial case was identified with the molecular analysis of FZD4 and shows the importance to explore first degree relatives in a sporadic FEVR case.
Subject(s)
Frizzled Receptors/genetics , Retinal Diseases/genetics , Adolescent , Asymptomatic Diseases , Eye Diseases, Hereditary , Familial Exudative Vitreoretinopathies , Humans , Male , Molecular Diagnostic Techniques , MutationABSTRACT
The aim of this study was to describe macular findings using spectral-domain optical coherence tomography (SD-OCT) in patients with ocular albinism (OA) and their carrier mothers, and to identify the frequency of GPR143 gene mutations in these patients. The study included five patients with a clinical diagnosis of OA. SD-OCT of the macular area was performed in both patients and their mothers. The anatomical characteristics of the macula and retinal pigment epithelium (RPE), patterns of autofluorescence and infrared imaging were analyzed. Polymerase chain reaction amplification of the complete coding sequence of GPR 143 was performed and subsequently analyzed by direct sequencing in patients and their possible carrier mothers. SD-OCT images revealed the presence of inner retinal layers in the fovea, an abnormal disposition of the Henle layer and a lack of thickening in the perifoveal area. We found increased thickness in the RPE to the outer segment and in the outer segment to the outer nuclear layer that is associated with increased visual acuity. Autofluorescence images revealed an absence of normal hipoautofluorescence in the fovea. No changes were observed in the images of their carrier mothers. Mutation screening and sequence analysis of the GPR 143 gene revealed a novel pathological mutation in two patients. Abnormalities in the macula were observed in all patients. SD-OCT is a useful tool for the assessment of patients with OA. No changes were observed in the SD-OCT of carrier mothers. Only two patients had the GPR143 gene mutation.
