In vivo confocal microscopy allowed the examination of the tear film, the tarsal conjunctiva, the lid margin including the lash follicles and the meibomian glands. In patients with meibomian gland disease pathological changes could be visualised and documented objectively. The presence of an inflammatory infiltrate permitted us to differentiate between meibomitis and meibomian gland dysfunction. Changes of the lash follicles do not seem to play an important role in blepharitis. Thus, in vivo confocal microscopy represents an objective technique in the classification and follow-up of patients with blepharitis.
Serpiginous choroiditis is an idiopathic disease, although similar lesions have been described in association with tuberculosis, sarcoidosis, systemic lymphoma, herpes virus infection and Crohn's disease. The coexistence of serpiginous-like choroiditis and a lung carcinoma has not previously been described.
RESUMENCaso clínico: Presentamos el caso clínico de un niño con talla baja, braquidactilia y braquimorfia remitido a la consulta por baja visión. Se trata de un caso de síndrome de Weill-Marchesani en una familia en la que cuatro de los ocho hijos presentan esferofaquia, braquimorfia y braquidactilia. Discusión: Existen pocos casos familiares del sín-drome de Weill-Marchesani reflejados en la literatura. Se han descrito patrones de herencia tanto autosómico dominante como recesivo. El papel del oftalmólogo en su diagnóstico y manejo es esencial, ya que la afectación oftalmológica es la más grave.Palabras clave: Síndrome de Weill-Marchesani, afectación familiar, ectopia lentis, esferofaquia.
COMUNICACIÓN CORTA
ABSTRACTCase report: We report the case of a child short in stature with brachydactyly and brachymorphy who was referred to our office complaining of poor vision. This was a case of Weill-Marchesani's syndrome described in a family, in which four of the eight children were affected by spherophakia, brachymorphy and brachydactyly. Discussion: There are few familial cases of WeillMarchesani's syndrome reported in the literature. Both autosomal dominant and recessive inheritances have been described. The opththalmologist plays a crucial role in its diagnosis and management, since the ocular involvement is the most severe one (Arch Soc Esp Oftalmol 2006; 81: 349-352).
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