Afectación ocular como primera y única manifestación del síndrome de Bardet-Biedl: presentación de un caso / Ocular impairment as the first and only manifestation of Bardet–Biedl syndrome: A case report

El síndrome de Bardet-Biedl (SBB) es una ciliopatía que se asocia principalmente a distrofia retiniana, disfunción renal, polidactilia posaxial, obesidad, déficit cognitivo e hipogonadismo. Los síntomas vinculados a la distrofia retiniana no suelen aparecer hasta la primera década de vida, por lo que la detección tiende a retrasarse. La afectación ocular puede ser la forma inicial de manifestación de este síndrome, incluso puede ser la única, por lo que se debería tener en cuenta en el diagnóstico diferencial de una ambliopía en un niño que no mejora a pesar del correcto cumplimiento del tratamiento. Se presenta un caso de baja agudeza visual (AV) en una paciente pediátrica como manifestación inicial que lleva al diagnóstico del SBB y que es, además, el único síntoma que exhibe hasta la fecha, a pesar de tratarse de una enfermedad multisistémica.(AU)

Bardet–Biedl syndrome is a ciliopathy mainly associated with retinal dystrophy, renal dysfunction, post-axial polydactyly, obesity, cognitive deficit and hypogonadism. The symptoms associated with retinal dystrophy do not usually appear until the first decade of life, so the diagnosis is usually delayed. Ocular involvement may be the initial form of manifestation of this syndrome, it may even be the only one, so it should be taken into account in the differential diagnosis of amblyopia in a child who does not improve despite correct compliance with treatment. A case of low visual acuity in a pediatric patient is presented as an initial manifestation that leads to the diagnosis of Bardet–Biedl syndrome, and which is also the only symptom that the patient presents to date, despite being a multisystem disease.(AU)

[Diplopia after sub-Tenon's anesthesia for cataract surgery]. / Diplopía postcirugía de catarata con anestesia subtenoniana.

PURPOSE: To study the clinical signs, treatment and prognosis of strabismus after sub-Tenon's anesthesia for cataract surgery. METHODS: Eight patients without previous strabismus developed incomitant diplopia immediately after cataract surgery; the left eye was affected in five patients and the right eye in three. Restrictive strabismus was diagnosed with the cover test, prisms, and active and passive ductions in all cases. In seven cases the deviation was vertical and in one patient it was horizontal. The average deviation was 17.5 S.D. 9.84 (range 5-35) prismatic dioptres in primary position. The deviation increased looking upward in seven cases, and looking sideways to the left in the other. It was considered to be a good result if the diplopia disappeared after treatment. RESULTS: Botulinum toxin was the first treatment applied in four patients, but only one showed a good response and required no further therapy. Strabismus surgery was required in four cases, and prisms were adapted in three. Three patients required two strabismus operations. A good result was achieved in all cases, with the average time interval being 10.12 (SD 5.5) months. CONCLUSIONS: Sub-Tenon's anesthesia may result in restrictive strabismus and incomitant diplopia which does not resolve spontaneously. The inferior rectus is the most commonly affected muscle. Strabismus surgery is required to resolve the diplopia in half of the cases. Good results have been achieved in all patients.