Ocular manifestations of two Filipinos with congenital fibrosis of the extraocular muscles

@#Congenital fibrosis of the extraocular muscles (CFEOM) is a rare, congenital, non-progressive disorder presenting with partial or total ophthalmoplegia, with variable degrees of ptosis in both eyes. We present the clinical manifestations of congenital fibrosis of the extraocular muscles in two patients. Both patients presented with bilateral ptosis and variable ophthalmoplegia with a chin-up posture. The ocular deviations have been noted since birth. No patient demonstrated a Marcus-Gunn jaw-winking phenomenon. Both patients had a mild refractive error with with-the-rule astigmatism. Deviation for both patients revealed exotropia with varying amounts of hypotropia and limitations in the movement of extraocular muscles. Both patients presented no abnormalities in the pupils. Neuroimaging revealed atrophy of the extraocular muscles. Diagnosis of CFEOM in a resource-poor setting is also challenging due to inaccessible gene testing. Manifestations of CFEOM vary across affected patients. CFEOM proposes challenges to the ophthalmologist with regards to management.

Síndrome de Fells-Waddel / Waddell Fells syndrome

Objetivo: Describir la fenomenología, génesis y alteraciones musculares del Síndrome de Fell-Waddel (FW) como parte de los desórdenes inervacionales congénitos. Se presentan dos casos. Método: Se realizó un análisis de la genética del rombencéfalo para comprender las posibles alteraciones del FW. Se analizaron dos casos, a los que se realizó la cirugía bajo anestesia tópica para el análisis de las funciones musculares. Resultados: En ambos casos se demostró la restricción en las diferentes rotaciones oculares, siendo mayor en el adulto. El debilitamiento de los rectos inferiores provocó una exotropia importante al frente, la divergencia en el intento de depresión y convergencia en el intento de elevación que tuvo sólo leve mejoría con el debilitamiento de los oblicuos superiores, en el segundo caso se analiza con cirugía bajo anestesia tópica su persistencia con los oblicuos superiores desinsertados. Conclusiones: Considerando la anomalía reportada de la división superior del III nervio en las disgnesias congénitas, podemos atribuir los cambios presentados en ambos casos a inervaciones aberrantes de la división inferior del III nervio craneal a los rectos laterales lo que correspondería con la divergencia e el intento de depresión, y a su vez la convergencia en el intento de elevación seria secundaria a la orden inhibitoria a los rectos laterales, quedando funcionando los restos mediales. El debilitamiento de los rectos inferiores, cirugía más frecuente en los síndromes de fibrosis de músculos extraoculares tipo I provocará una exotropia al frente que debe ser corregida.

Objective: To describe clinical characteristics, genetic and muscular anomalies in Fells-Waddel syndrome (FW), a congenital cranial dysinnervation disorder. Method: We analyzed the genetics of rhombencephalon to explain alterations in FW. We present two cases of FW which underwent surgery where orbital alterations were demonstrated. Topical anesthesia was used in the second case for analysis of muscular functions. Results: Restriction was demonstrated in both cases, but it was worse in the adult. Recession of the inferior rectus caused a big exotropia. Divergence in depression and convergence in elevation were improved only partially after recession of superior oblique. In case 2, the patient was alert under topical anesthesia, and while these muscles were free, the anomalies persisted. Conclusions: There is an anomaly of superior division of III nerve in these cases, so these movements can be secondary to aberrant innervations of inferior division of the III nerve to the lateral rectus, this can explain divergence during depression. Convergence in elevation is explained because of the inhibitory effect on the lateral rectus while de medial rectus are still functional. Recession of inferior rectus is the most common surgery in these cases, which will cause a big exotropia that must be corrected.