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)

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.

Tratamiento de la hiperpigmentación periocular con fuentes de luz / Treatment of periorbital hyperpigmentation using light devices

El tratamiento de la ojera supone una de las demandas más habituales en la consulta de estética para mejorar la imagen de cansancio, tristeza o envejecimiento que perciben nuestros pacientes. Además, se trata de un problema de etiología multifactorial y frente al que disponemos de un amplio abanico de tratamientos.El objetivo de la presente revisión es analizar la mejor evidencia disponible para el tratamiento de la ojera hiperpigmentada con fuentes de luz. Se han revisado 208 artículos que cumplían los criterios de búsqueda, incluyendo finalmente 14 para dar plena consideración en la revisión.Múltiples fuentes de luz han demostrado ser eficaces para el tratamiento de la pigmentación periorbitaria. Los resultados más prometedores se obtienen con luz pulsada intensa y láser rubí en combinación con despigmentantes. Para el tratamiento de la pigmentación junto con redensificación y disminución de arrugas destacan el láser CO2 y el láser erbium:yttrium scandium gallium garnet. Los láseres neodymium-doped yttrium aluminium garnet, alejandrita y diodo fueron los que reportaron resultados más moderados con su uso aislado. El tratamiento adyuvante con despigmentantes mejora resultados y reduce la incidencia de hiperpigmentación postinflamatoria.Es necesaria una mejor estandarización en la medida de los resultados en los cambios de la pigmentación. Además, sería recomendable realizar ensayos clínicos con resultados objetivables y que combinen varias fuentes de luz para el tratamiento no solo de la pigmentación periorbitaria, sino de la ojera de forma integral. (AU)

The treatment of dark circles is one of the most common request from the patients attending to the esthetics clinic. A tired, sad or aged appearance is perceived by our patients. Moreover, it is a multifactorial problem and we could treat it with a wide range of treatments.With this systematic review, we want to check the best available evidence regarding the treatment of periorbital hyperpigmentation using light devices. We have reviewed 208 papers, including 14 of them for full consideration.Several light sources have demonstrated to be effective treating pigmented dark circles. The best results have been reported using intense pulsed light and rubi laser together with depigmenting substances. If we want to treat periocular hyperpigmentation, soft wrinkles, rhytides and skin density we should use carbon dioxide laser or erbium:yttrium scandium gallium garnet. The neodymium-doped yttrium aluminium garnet, alexandrite and diode lasers were the ones giving the worst outcome regarding pigmentation treatment. The concomitant use of depigmenting treatment may help getting better results and reducing the rate of post-inflammatory hyperpigmentation.A better standardization and measuring of the obtained results is needed regarding pigmentation changes. We must keep on investigating on this topic with new clinical trials measuring objective results and combining different light devices for a multifactorial treatment of the dark circles. (AU)

Treatment of periorbital hyperpigmentation using light devices.

The treatment of dark circles is one of the most common request from the patients attending to the esthetics clinic. A tired, sad or aged appearance is perceived by our patients. Moreover, it is a multifactorial problem and we could treat it with a wide range of treatments. With this systematic review, we want to check the best available evidence regarding the treatment of periorbital hyperpigmentation using light devices. We have reviewed 208 papers, including 14 of them for full consideration. Several light sources have demonstrated to be effective treating pigmented dark circles. The best results have been reported using intense pulsed light and rubi laser together with depigmenting substances. If we want to treat periocular hyperpigmentation, soft wrinkles, rhytides and skin density we should use carbo dioxide laser or Erbium:Yttrium Scandium Gallium Garnet. The Neodymium-Doped Yttrium Aluminium Garnet, alexandrite and diode lasers were the ones giving the worst outcome regarding pigmentation treatment. The concomitant use of depigmenting treatment may help getting better results and reducing the rate of post inflammatory hyperpigmentation. A better standardization and measuring of the obtained results is needed regarding pigmentation changes. We must keep on investigating on this topic with new clinical trials measuring objective results and combining different light devices for a multifactorial treatment of the dark circles.