Manifestaciones oftalmológicas en 6 pacientes con síndrome de Williams-Beuren y revisión de la literatura / Ophthalmological manifestations in 6 patients diagnosed with Williams-Beuren syndrome and literature review

Se revisó la historia clínica de 6 pacientes diagnosticados de síndrome de Williams-Beuren en la edad pediátrica. Todos los pacientes presentaron la facies de elfo característica y anomalías cardiovasculares. Todos presentaron buena agudeza visual, excepto un caso de ambliopía unilateral. El error refractivo más frecuente fue la hipermetropía (n=6; 100%) y el astigmatismo (n=5; 83,3%). En 2 pacientes se encontraron alteraciones de la motilidad ocular (un caso de exoforia con hiperfunción de oblicuo inferior derecho y otro de endotropía congénita con hiperfunción del oblicuo inferior bilateral). Cognitivamente un 66,7% (n=4) tenía alteraciones visoperceptivas. Otros hallazgos fueron epicantus (n=6; 100%) y obstrucción congénita del conducto nasolagrimal con epífora unilateral (n=1; 16,7%). El síndrome de Williams-Beuren es un trastorno poco frecuente con manifestaciones oftalmológicas y sistémicas complejas. Por ello, es recomendable realizar un seguimiento oftalmológico a estos niños (AU)

Medical history of 6 patients diagnosed with Williams-Beuren Syndrome (SWB) in pediatric age was revised. All the patients presented characteristic elf facies and cardiovascular abnormalities. All presented good visual acuity, except one case of unilateral amblyopia. The most frequent refractive error was hyperopia (n=6; 100%) and astigmatism (n=5; 83.3%). Ocular motility alterations were found in 2 patients (1 case of exophoria with hyperfunction of right inferior oblique and another of congenital endotropia with bilateral hyperfunction of inferior oblique). On the cognitive function, 66.7% (n=4) had visoperceptive disorders. Other findings were epicanthus (n=6; 100%) and congenital obstruction of the nasolacrimal duct with unilateral epiphora (n=1; 16.7%). SWB is a rare disorder with complex ophthalmological and systemic manifestations. For this reason, ophthalmological follow-up of these children is recommended (AU)

Ophthalmological manifestations in 6 patients diagnosed with Williams-Beuren syndrome and literature review.

Medical history of 6 patients diagnosed with Williams-Beuren Syndrome (SWB) in pediatric age was revised. All the patients presented characteristic elf facies and cardiovascular abnormalities. All presented good visual acuity, except one case of unilateral amblyopia. The most frequent refractive error was hyperopia (n = 6; 100%) and astigmatism (n = 5; 83.3%). Ocular motility alterations were found in 2 patients (1 case of exophoria with hyperfunction of right inferior oblique and another of congenital endotropia with bilateral hyperfunction of inferior oblique). On the cognitive function, 66.7% (n = 4) had visoperceptive disorders. Other findings were epicanthus (n = 6; 100%) and congenital obstruction of the nasolacrimal duct with unilateral epiphora (n = 1; 16.7%). SWB is a rare disorder with complex ophthalmological and systemic manifestations. For this reason, ophthalmological follow-up of these children is recommended.

Septo-optic dysplasia: Ophthalmological abnormalities in a series of 5 cases.

Septo-optic dysplasia (SOD) is a rare congenital condition of unknown cause, with a characteristic triad that includes optic nerve hypoplasia, pituitary function abnormalities and midline brain defects, in addition to a broad spectrum of symptoms and associations. A total of five clinical cases are presented, four of which met the complete classic triad. All of them showed a wide variety of ophthalmological, endocrinological and neurological alterations. Within the ophthalmological spectrum of SOD, papillary hypoplasia and ocular motility alterations (nystagmus, strabismus) stand out. Other less frequent ones may also appear, such as pupillary alterations, microphthalmia and coloboma. Given the suspicion of SOD, brain MRI scan should be performed, as well as consultation with the paediatric department in order to complete the study and indicate, if necessary, systemic treatment.

Displasia septoóptica: alteraciones oftalmológicas en una serie de 5 casos / Septo-optic dysplasia: ophthalmological abnormalities in a series of 5 cases

La displasia septoóptica (DSO) es una entidad congénita, rara, de causa desconocida, con una tríada característica que incluye hipoplasia de nervio óptico, anomalías en la función hipofisaria y defectos en la línea media cerebral, además de un amplio espectro de manifestaciones y asociaciones.Se presenta una serie de cinco casos clínicos, de los cuales cuatro presentaron la tríada clásica completa. Todos mostraron gran variedad de alteraciones oftalmológicas, endocrinológicas y neurológicas.Dentro del espectro oftalmológico de la DSO, destacan la hipoplasia papilar y las alteraciones de la motilidad ocular (nistagmos estrabismo). También pueden aparecer otras menos frecuentes, como son alteraciones pupilares, microftalmia y coloboma.Ante la sospecha de DSO, conviene realizar una resonancia magnética cerebral y una interconsulta con el servicio de pediatría para completar el estudio e indicar, si fuera preciso, tratamiento sistémico.

Septo-optic dysplasia (SOD) is a rare congenital condition of unknown cause, with a characteristic triad that includes optic nerve hypoplasia, pituitary function abnormalities and midline brain defects, in addition to a broad spectrum of symptoms and associations.A total of five clinical cases are presented, four of which met the complete classic triad. All of them showed a wide variety of ophthalmological, endocrinological and neurological alterations.Within the ophthalmological spectrum of SOD, papillary hypoplasia and ocular motility alterations (nystagmus, strabismus) stand out. Other less frequent ones may also appear, such as pupillary alterations, microphthalmia and coloboma.Given the suspicion of SOD, brain MRI scan should be performed, as well as consultation with the paediatric department in order to complete the study and indicate, if necessary, systemic treatment.

Prospective study of cooperation and satisfaction in glaucoma surgery under sub-Tenon's anesthesia.

OBJECTIVES: To evaluate the analgesic effect as well as patient cooperation and satisfaction with sub-tenon's anesthesia in glaucoma surgery. MATERIAL AND METHODS: Prospective uncontrolled study. Fifty-three patients who underwent glaucoma surgery, with or without cataract extraction, with sub-Tenon's anesthesia have been studied. Satisfaction and cooperation were evaluated on a qualitative scale. The pain level was quantified using a numerical scale from 1 (no pain) to 10 (unsupportable pain). RESULTS: The mean pain score at the different periods was: 2.13 (standard deviation [SD] 1.47) on administering anesthesia, 1.74 (SD 1.27) during the surgery, 1.63 SD (1.23) immediately after the procedure, 1.38 (SD 0.38) 30 min later, and 1.38 (SD 0.63) when leaving the recovery unit. The postoperative satisfaction was "fairly or very satisfied" in 92.6% of the cases for both the surgeons and the patients. Twenty-four patients complained during the surgery, 15 of them at the conjunctival suture; in these cases additional anesthesia was administered, and, in 4 cases, intravenous paracetamol was given. Pain scores were significatively higher during the surgery (P=.033), and immediately after the procedure (P=.027) in trabeculectomy than in deep sclerectomy patients. CONCLUSIONS: The good analgesic level reached led to a high level of patient and surgeon satisfaction, even in longer procedures such as deep sclerectomy combined with cataract extraction, or implantation of drainage devices. Pain scores were significatively higher in trabeculectomy than in deep sclerectomy patients.

Estudio prospectivo sobre colaboración y satisfacción en cirugía de glaucoma con anestesia subtenoniana / Prospective study of cooperation and satisfaction in glaucoma surgery under sub-Tenon's anesthesia

Objetivos: Valorar el efecto analgésico así como la colaboración y satisfacción de los pacientes en la cirugía de glaucoma con anestesia subtenoniana. Material y métodos: Estudio prospectivo no controlado. Se estudiaron datos de 53 pacientes operados de glaucoma, asociado o no a cirugía de catarata, bajo anestesia subtenoniana, valorándose de manera cualitativa la satisfacción y colaboración, así como el grado de analgesia mediante una escala numérica de 1 (no dolor) a 10 (máximo). Resultados: La calificación media del dolor ha sido: 2,13 desviación estándar (DE): 1,47 al administrar la anestesia, 1,74 DE: 1,27 durante la intervención, 1,63 DE: 1,23 en el postoperatorio inmediato, 1,38 DE: 0,38 a los 30min y 1,38 DE: 0,63 al alta. El grado de satisfacción fue «bastante o muy satisfecho» en el 92,6% de los casos, tanto para pacientes como para cirujanos. En 24 casos el paciente refirió molestias, 15 de ellos durante la sutura conjuntival, requiriendo anestesia adicional y en cuatro casos, paracetamol sistémico. La puntuación del dolor fue significativamente mayor durante la cirugía (p=0,033) y en el postoperatorio inmediato (p=0,027) en los pacientes operados de trabeculectomía que en la esclerectomía profunda no penetrante (EPNP). Conclusiones: El buen nivel analgésico conseguido favoreció un alto grado de satisfacción por parte de cirujanos y pacientes, incluso en procedimientos de larga duración como esclerectomía profunda no penetrante combinada con facoemulsificación e implantes de dispositivos de drenaje. El dolor percibido por los pacientes durante la cirugía y postoperatorio inmediato fue mayor en la trabeculectomía que en la EPNP(AU)

Objectives: To evaluate the analgesic effect as well as patient cooperation and satisfaction with sub-tenon's anesthesia in glaucoma surgery. Material and methods: Prospective uncontrolled study. Fifty-three patients who underwent glaucoma surgery, with or without cataract extraction, with sub-Tenon's anesthesia have been studied. Satisfaction and cooperation were evaluated on a qualitative scale. The pain level was quantified using a numerical scale from 1 (no pain) to 10 (unsupportable pain). Results: The mean pain score at the different periods was: 2.13 (standard deviation [SD] 1.47) on administering anesthesia, 1.74 (SD 1.27) during the surgery, 1.63 SD (1.23) immediately after the procedure, 1.38 (SD 0.38) 30min later, and 1.38 (SD 0.63) when leaving the recovery unit. The postoperative satisfaction was “fairly or very satisfied” in 92.6% of the cases for both the surgeons and the patients. Twenty-four patients complained during the surgery, 15 of them at the conjunctival suture; in these cases additional anesthesia was administered, and, in 4 cases, intravenous paracetamol was given. Pain scores were significatively higher during the surgery (P=.033), and immediately after the procedure (P=0.027) in trabeculectomy than in deep sclerectomy patients. Conclusions: The good analgesic level reached led to a high level of patient and surgeon satisfaction, even in longer procedures such as deep sclerectomy combined with cataract extraction, or implantation of drainage devices. Pain scores were significatively higher in trabeculectomy than in deep sclerectomy patients(AU)