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.

Comparison of vision-related quality of life and mental health between congenital and acquired low-vision patients.

PURPOSE: To evaluate the impact of the age of onset of low vision on patients' vision-related quality of life (VR-QoL) and mental health. METHODS: Low-vision patients who visited Chung-Ang University hospital from January 2012 to December 2014 were included. Patients were divided into the congenital low-vision (CLV) and acquired low-vision (ALV) groups according to the age of disease onset. People with normal visual function comprised the control group. VR-QoL was estimated with the National Eye Institute Visual Function Questionnaire (NEI VFQ-25), while mental health was assessed through the Beck Depression Inventory (BDI) and the Beck Anxiety Inventory (BAI). The mean scores of each questionnaire were compared between the groups in independent t-tests. RESULTS: Overall, 125 low-vision patients (55 CLV and 70 ALV) and 71 control subjects were included. Although the subscale and composite scores of the NEI VFQ-25 were lower in the ALV group than in the CLV group, the differences were not significant. However, the BDI and BAI scores were significantly higher in the ALV group than in the CLV group (12.07 ± 11.97 vs. 7.67 ± 9.04, P = 0.021; 9.11 ± 10.51 vs. 5.69 ± 6.85, P = 0.030, respectively). Also, the number of patients requiring expert consultation for depression was higher in the ALV group than in the CLV group (P = 0.010). CONCLUSION: ALV patients have more vulnerable mental health states than CLV patients. Therefore, assessment of the age of onset of low vision and mental health plays a critical role in successful rehabilitation.

Características clínicas en niños con baja visión. Sancti Spíritus 2001-2012 / Clinical characteristics in children with low vision. Sancti Spíritus 2001-2012

Fundamento: Las consecuencias del aumento creciente de la discapacidad visual afecta a los diferentes grupos etarios. En el niño limita el conocimiento del mundo y con ello sus avances académicos, el desarrollo sicomotor y la formación de su personalidad. Objetivo: Determinar las características clínicas en niños con baja visión en la provincia Sancti Spíritus desde el 2001 hasta el 2012. Metodología: Se realizó un estudio descriptivo, en el período de enero 2001 hasta diciembre 2012, en la consulta de baja visión del Hospital General Camilo Cienfuegos a los 87 niños entre 0 y 18 años, atendidos en intervención precoz y estudiantes de la escuela especial Miguel Ángel Echemendía. Resultados: Hubo un predominio del sexo masculino, en el grupo de pacientes atendidos en la consulta de intervención precoz, el motivo fundamental fue la retinopatía de la prematuridad y las principales causas de discapacidad en edad escolar fueron las anomalías congénitas, con 96,4 % de rehabilitación visual. Conclusiones: La estimulación visual en niños constituye un factor importante para contribuir al desarrollo de su visión. Se ofrece una atención diferenciada a este grupo etario para garantizar su inserción a la sociedad(AU)

Características clínicas en niños con baja visión. Sancti Spíritus 2001-2012 / Clinical characteristics in children with low vision. Sancti Spíritus 2001-2012

Fundamento: Las consecuencias del aumento creciente de la discapacidad visual afecta a los diferentes grupos etarios. En el niño limita el conocimiento del mundo y con ello sus avances académicos, el desarrollo sicomotor y la formación de su personalidad. Objetivo: Determinar las características clínicas en niños con baja visión en la provincia Sancti Spíritus desde el 2001 hasta el 2012. Metodología: Se realizó un estudio descriptivo, en el período de enero 2001 hasta diciembre 2012, en la consulta de baja visión del Hospital General Camilo Cienfuegos a los 87 niños entre 0 y 18 años, atendidos en intervención precoz y estudiantes de la escuela especial Miguel Ángel Echemendía. Resultados: Hubo un predominio del sexo masculino, en el grupo de pacientes atendidos en la consulta de intervención precoz, el motivo fundamental fue la retinopatía de la prematuridad y las principales causas de discapacidad en edad escolar fueron las anomalías congénitas, con 96,4 % de rehabilitación visual. Conclusiones: La estimulación visual en niños constituye un factor importante para contribuir al desarrollo de su visión. Se ofrece una atención diferenciada a este grupo etario para garantizar su inserción a la sociedad(AU)

Caracterización clínica del síndrome de Usher provincia Holguín / Usher syndrome clinical characterization Holguin Province

El síndrome de Usher es una enfermedad determinada genéticamente, con una gran heterogeneidad clínica y genética; está caracterizada por hipoacusia neurosensorial de moderada a severa, retinosis pigmentaria progresiva y puede acompañarse de alteración vestibular. Por la alta prevalencia de esta enfermedad en la provincia de Holguín, se considera necesario este estudio. Objetivo: Caracterizar clínicamente todos los enfermos con diagnóstico clínico de síndrome de Usher en la provincia Holguín, en el período de enero del 2009 a enero del 2016. Metodología: Se realizó un estudio descriptivo, retrospectivo, tipo serie de casos, a los 53 pacientes con diagnóstico clínico de síndrome de Usher en la provincia Holguín. La muestra estuvo formada por los 53 enfermos residentes en la provincia. Se revisaron los registros del Centro Provincial de Retinosis Pigmentaria y las historias clínicas de estos pacientes; se recogieron los datos de interés en un instrumento que se confeccionó para ello. Las variables estudiadas fueron el sexo, la edad, edad del diagnóstico de la hipoacusia y severidad, edad del diagnóstico de la retinosis pigmentaria y los resultados de las pruebas audiológicas, lo que permitió conocer la función vestibular. Resultados: Se caracterizó clínicamente el 100 porciento de los enfermos estudiados. Predominó el sexo masculino (60,37 porciento). El 80 porciento presentó la retinosis pigmentaria en la primera infancia y la hipoacusia congénita profunda en 67,92 porciento. Las pruebas vestibulares demostraron que el 71,70 porciento presenta síndrome de Usher tipo II y el 28,30 porciento tiene el tipo I. Conclusiones: Predominó el sexo masculino, la hipoacusia precedió a la alteración visual. Se logró caracterizar clínicamente a estos afectados. Prevaleció el síndrome de Usher tipo II(AU)

Usher syndrome is a genetically determined disease with great clinical and genetic heterogeneity. This disease is characterized by sensorineural hearing loss of moderate to severe, progressive pigmentosa retinitis and may be accompanied by vestibular alteration. At the high prevalence of this disease in the province of Holguin, this study is considered necessary. Objective: To characterize all patients clinically with clinical diagnosis of Usher syndrome in Holguin province, in the period from January 2009 to January 2016. Methodology: A series types of retrospective cases, descriptive study with 53 patients with clinical diagnosis of Usher syndrome in Holguin province was conducted. The sample consisted of 53 patients residing in the province. Provincial records Pigmentosa Retinitis Pigmentosa Center and the medical records of these patients were reviewed, the data of interest are collected in an instrument that was drawn up for these. The variables studied were sex, age, age at diagnosis of hearing loss and severity, age of diagnosis of pigmentosa retinitis and the results of the audiological tests, allowing knowing the vestibular function. Results: It was possible to clinically characterize 100 percent of the patients studied, predominantly male in a 60.37 percent. 80 percent had pigmentosa retinitis in early childhood and profound congenital hearing loss in 67.92 percent. Vestibular tests showed that 71. 70 percent have Usher syndrome type II and 28.30 percent have the type I. Conclusions: mainly males, hearing loss preceded visual impairment. It was possible to clinically characterize those affected. It prevailed Usher syndrome type II(AU)

Driving performance among bioptic telescope users with low vision two years after obtaining their driver's license: a quasi-experimental study.

This study sought to compare road safety of new drivers with low vision who have followed a specific pilot bioptic training program with other groups of drivers all matched for age and driving experience. A quasi-experimental design was used two years after drivers obtained their license. Drivers were classified in the experimental group (n = 10, they followed a pilot bioptic training program and had license restrictions: weight of the car, requirement of a yearly medical exams, requirement to wear glasses/contacts, use of a bioptic telescope), the comparison group (n = 17, similar license restrictions except the use of a bioptic telescope) and the regional population (n = 1,690, no license restriction). The number of new drivers involved in at least one accident and who committed at least one offense is not greater for users of a bioptic telescope than for drivers of in the other groups. The results of this study indicate that driving with a bioptic telescope does not increase the risk of accidents and offenses, with more scientific evidence than in previous studies, among drivers aged between 25 and 35 who have a congenital visual impairment and who have completed an eight-week pilot bioptic training program.

Two patients with spinocerebellar ataxia type 7 presenting with profound binocular visual loss yet minimal ophthalmoscopic findings.

Two patients with genetically confirmed spinocerebellar ataxia type 7 (SCA7) presented with progressive visual loss. Examination disclosed substantial visual acuity loss, central scotomas, and marked dyschromatopsia. Ophthalmoscopic abnormalities were subtle, with only mild retinal artery attenuation and minimal foveal region pigmentary abnormalities. Both patients had slow saccades and partially limited ductions, although neither reported diplopia. One patient had obvious extremity and gait ataxia, but the other had only an unsteady tandem gait. Results of electroretinography (ERG) were abnormal in both patients. These cases illustrate that SCA7 may present with profound visual loss yet minimal ophthalmoscopic findings and sometimes minimal ataxia. The clues to diagnosis are the abnormal color vision, retinal artery attenuation, abnormal eye movements, and a family history of similar manifestations, which may have gone undiagnosed. Full-field or multifocal ERG will always disclose photoreceptor dysfunction. Genetic testing is now available to confirm the diagnosis.

Septo-optic dysplasia: case report

The clinical triad of septo-optic dysplasia (SOD) comprises the abscence of the septum pellucidum, congenital optic nerve dysplasia, and multiple endocrine disorders. When any two of these factors are present, the condition is defined as an imcomplete form of SOD. The authors report the case of an imcomplete form of SOD in a 9-year old boy with low vision and nystagmus present from birth. The bilateral ophthalmoscopic examination revealed small papillae with double countour images. Magnetic resonance imaging showed hypoplasia of the optic nerve bilaterally, chiasm and absence of the septum pellucidum.

Visual disorders in children with brain lesions: 2. Visual impairment associated with cerebral palsy.

Disorders of visual function are a common finding in children with cerebral palsy. In some cases they are secondary to ophthalmologic abnormalities such as cataract or retinopathy, but more often they are due to damage of the central visual pathway. We review the literature on the prevalence and distribution of visual abnormalities in children with cerebral palsy and their relation to cognitive, motor and emotional development.

Haptic perception of the horizontal by blind and low-vision individuals.

We examined haptic perception of the horizontal in visually impaired people. Blind people (late blind and congenitally blind), persons with very low vision, and blindfolded sighted individuals felt raised-line drawings of jars at four angles. They had to demonstrate their understanding that water remains horizontal, despite jar tilt, by selecting the correct raised-line drawing given four choices. Low-vision subjects, with near perfect scores, performed significantly better than the other groups of subjects. While the late-blind and blindfolded sighted subjects performed slightly better than the congenitally blind participants, the difference between the late-blind and congenitally blind groups was nonsignificant. The performance of the congenitally blind subjects indicates that visual experience is not necessary for the development of an understanding that water level stays horizontal, given container tilt.

[Septo-optic dysplasia (de Morsier syndrome)]. / Septooptische Dysplasie (de-Morsier-Syndrom).

Septo-optic dysplasia (or de Morsier syndrome) is a congenital disorder characterised by anomalies in cerebral midline structures, optic nerve hypoplasia, and hormonal deficiencies. Diagnosis should be made early, due to the possibility of treating the hormonal disturbances. We describe here a case with decreased visual acuity, one-sided hemianopia, nystagmus und agenesis of the septum pellucidum and discuss the heterogeneous appearance of this syndrome. There are two theories regarding its pathogenesis. The first postulates simultaneous damage to both cerebral structures and optic nerve development around the 6th week of gestation, while the other favours secondary degeneration of optic nerve fibres due to a cerebral lesion.

Head and eye movements in children with low vision.

BACKGROUND: Early childhood nystagmus may herald blindness, brain tumors, benign idiopathic motor nystagmus or spasmus nutans. Nystagmus unique to low vision was sought. METHODS: Videotapes and head/ eye movements of 18 congenitally visually impaired subjects were analyzed. RESULTS: Nystagmus of congenitally visually impaired subjects was characterized as small horizontal or vertical movements superimposed on larger oscillations. Small and large nystagmus movements were of pendular or jerk type. Slow-phase jerk nystagmus had increasing, constant and decreasing velocities. Fast-phase nystagmus changed direction periodically. Pendular nystagmus was out of phase and evolved to jerk nystagmus in two subjects. All subjects displayed head nodding, and one stabilized gaze with head movements. CONCLUSION: Eye movement recordings allow characterization and differentiation of subjects with nystagmus and low vision from other nystagmus forms.

Congenital and hereditary visual impairment in Greenland.

Thirty-eight cases of congenital visual impairment (CVI) were reported in the Inuit population of Greenland over a period of 40 years (1950-1989), corresponding to a frequency of 86 per 100,000 live born children. The two most common causes of blindness were optic atrophy and cerebral visual impairment due to brain disorders of various etiologies. This finding is in accordance with recently published data from the Nordic countries. On the other hand, retinopathy of prematurity and congenital cataract were rare causes of CVI in Greenland. Fifteen out of the 38 cases had unknown etiology. Genetic disorders accounted for 7/38 of the cases. A separate examination of registered cases with probable genetic visual impairment, irrespective of birth year, disclosed 25 patients. New mutations seemed to be the most reasonable explanation for isolated cases of aniridia, lens ectopia, and Down syndrome, while inbreeding was a possible contributory factor in a few autosomal recessive conditions.

Visual characteristics of low vision children.

A retrospective survey of pediatric clinical files from the Kooyong Low Vision Clinic (LVC) showed that the major causes of low vision were congenital or inherited conditions and most children had 6/60 (20/200) or better distance acuities. A classroom evaluation of these children showed that overall, the clinically determined visual acuity corresponded with classroom performance. A high rate of use of prescribed low vision aids was found, and a reading evaluation on a standardized test showed poor performance with respect to reading speed and comprehension, but almost all the children had adequate reading accuracy. Considering the importance of reading in education, greater emphasis on reading evaluations in routine low vision examinations is recommended.