Ocular impairment as the first and only manifestation of Bardet-Biedl syndrome: A case report.

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.

[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.

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)

Diplopía postcirugía de catarata con anestesia subtenoniana / Diplopia after sub-tenon's anesthesia por cataract surgery

Objetivo: Estudiar las características del estrabismosecundario a la cirugía de catarata con anestesiasubtenoniana; su tratamiento y pronóstico.Método: Ocho enfermos sin estrabismo previo presentarondiplopía inmediatamente después de lacirugía de catarata; cinco de ojo izquierdo, tres deojo derecho. La exploración con cover test, prismasy ducción activa y pasiva mostró estrabismo restrictivo:siete de componente vertical y uno horizontal.La desviación media fue de 17,5 DE: 9,84 dioptríasprismáticas (rango 5-35) en la mirada al frente. Laposición máxima de desviación fue en supraversiónen siete, y en levoversión en otro. Todos teníandiplopía invalidante. Se considera buen resultado sidesaparecía la diplopía con el tratamiento.Resultados: Cuatro casos recibieron tratamientoquirúrgico, en uno sólo se inyectó toxina botulínicay en tres se pusieron prismas. La toxina botulínicase empleó como primera opción en cuatro casos ysólo fue eficaz en un enfermo. De los cuatro casosoperados, tres necesitaron dos cirugías y un pacientesólo un tiempo quirúrgico. Se consiguió buenresultado en los ocho pacientes tratados. El tiempomedio de evolución fue de 10,12 DE: 5,46 meses. Conclusiones: La anestesia subtenoniana puedeprovocar un estrabismo restrictivo y una diplopíamuy invalidantes que no se resuelven espontáneamente.El recto inferior es el músculo más frecuentementeafectado. La cirugía muscular es necesariapara resolver el problema en la mitad de los casos.Se consiguen buenos resultados quirúrgicos

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 incommitant 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 incommitant 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