Daniel Martins Rocha

Sweep visually evoked potentials and visual findings in children with West syndrome

BACKGROUND West syndrome (WS) is a type of early childhood epilepsy characterized by progressive neurological development deterioration that includes vision. AIM To demonstrate the clinical importance of grating visual acuity thresholds (GVA) measurement by sweep visually evoked potentials technique (sweep-VEP) as a reliable tool for evaluation of the visual cortex status in WS children. METHODS This is a retrospective study of the best-corrected binocular GVA and ophthalmological features of WS children referred for the Laboratory of Clinical Electrophysiology of Vision of UNIFESP from 1998 to 2012 (Committee on Ethics in Research of UNIFESP n° 0349/08). The GVA deficit was calculated by subtracting binocular GVA score (logMAR units) of each patient from the median values of age norms from our own lab and classified as mild (0.1-0.39 logMAR), moderate (0.40-0.80 logMAR) or severe (>0.81 logMAR). Associated ophthalmological features were also described. RESULTS Data from 30 WS children (age from 6 to 108 months, median = 14.5 months, mean ± SD = 22.0 ± 22.1 months; 19 male) were analyzed. The majority presented severe GVA deficit (0.15-1.44 logMAR; mean ± SD = 0.82 ± 0.32 logMAR; median = 0.82 logMAR), poor visual behavior, high prevalence of strabismus and great variability in ocular positioning. The GVA deficit did not vary according to gender (P = .8022), WS type (P = .908), birth age (P = .2881), perinatal oxygenation (P = .7692), visual behavior (P = .8789), ocular motility (P = .1821), nystagmus (P = .2868), risk of drug-induced retinopathy (P = .4632) and participation in early visual stimulation therapy (P = .9010). CONCLUSIONS The sweep-VEP technique is a reliable tool to classify visual system impairment in WS children, in agreement with the poor visual behavior exhibited by them.

Visual acuity and retinal function in patients with Bardet-Biedl syndrome

OBJECTIVE: Bardet-Biedl syndrome is a genetic, multisystem disorder that causes severe visual impairment. This condition is characterized by retinal dystrophy, obesity, digit anomalies, renal disease, and hypogonadism. The purpose of this study was to analyze visual acuity and full-field electroretinogram findings in patients with the Bardet-Biedl syndrome phenotype. METHODS: The visual acuity of a group of 23 patients (15 males) with ages ranging from 6-36 years (mean = 15.8±6.4; median = 14.7) was assessed. Retinal function was evaluated by full-field electroretinography, and dark-adapted thresholds were assessed. RESULTS: Visual acuity in the better-seeing eye was 20/40 or better in 5 patients (21.7%), 20/50-20/150 in 13 (56.5%) patients, 20/200-20/400 in 2 (8.7%) patients and worse than 20/400 in one (4.3%) patient. The mean acuity in the better-seeing eye was 0.7±0.6 logMAR (20/100, Snellen equivalent). Scotopic rod and maximal responses were non-detectable in 21 (91.3%) patients, and cone responses were non-detectable in 15 (65.2%) patients. Elevated dark-adapted visual thresholds were observed in all 19 patients who were able to be assessed, with 10 (52.6%) patients having thresholds greater than 30 dB. CONCLUSIONS: In a relatively young cohort of patients with Bardet-Biedl syndrome, only 21% had 20/40 or better vision. ERG scotopic responses were absent in the majority of cases, with cone responses being observed in less than half of cases. These findings showed the early deleterious effects in retinal function and visual acuity caused by this condition.

Evaluation of anterior segment foreign bodies with ultrasound biomicroscopy

INTRODUCTION Ocular trauma is considered a health care problem because is an important cause for visual impairment. Intraocular foreign bodies are related to activities involving usage of metallic objects, but other materials can be present in the eye and have to be diagnosed and localized. Ultrasound biomicroscopy is an adequate subsidiary tool to evaluate an anterior chamber intraocular foreign body. PURPOSE To characterize nature, localization, dimensions of foreign bodies and associated lesions to the anterior segment using ultrasound biomicroscopy. METHODS Retrospective clinical study of 7,182 patients charts submitted to ultrasound biomicroscopy examination between 1999 and 2008, totalizing 59 eyes suspected of anterior segment foreign body. RESULTS Five cases presented two foreign bodies, fragments from the same nature, in different locations or not; and three cases had uncountable fragments in the anterior segment. Concerning localization: cornea, 11 (26%); conjunctiva, 10 (23%); iris, 10 (23%); lens, 9 (21%); sclera, 5 (12%); corneal angle, 5 (12%); ciliary body, 3 (7%). Among the associated lesions, it was identified: corneal perforation in 12 cases, corneal laceration in 2 cases, anterior synechia in 6 cases, traumatic aniridia 1 case, traumatic iridotomy in 3 cases, anterior chamber reaction in 10 cases and rupture of the anterior lens capsule in 4 cases. Considering composition: metallic, 21 (50%); non metallic, 20 were glass (48%) and 1 was vegetal (2%). The size of foreign bodies varied from 0.09 to 2.45 mm (average: 0.84 mm). CONCLUSIONS Ultrasound biomicroscopy is useful to localize foreign bodies in the anterior segment. This imaging method can give orientation about composition, path, and localization of foreign bodies and associated lesions, thus facilitating therapeutic planning prior to intervention, avoiding additional lesions to the eye.

Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype

Purpose: To analyze the clinical features, visual acuity, and full-field electroretinogram (ERG) findings of 15 patients with the neuronal ceroid lipofuscinosis (NCL) phenotype and to establish the role of ERG testing in NCL diagnosis. Methods: The medical records of five patients with infantile NCL, five with Jansky-Bielschowsky disease, and five with juvenile NCL who underwent full-field ERG testing were retrospectively analyzed. Results: Progressive vision loss was the initial symptom in 66.7% of patients and was isolated or associated with ataxia, epilepsy, and neurodevelopmental involution. Epilepsy was present in 93.3% of patients, of whom 86.6% presented with neurodevelopmental involution. Fundus findings ranged from normal to pigmentary/atrophic abnormalities. Cone-rod, rod-cone, and both types of dysfunction were observed in six, one, and eight patients, respectively. Conclusion: In our study, all patients with the NCL phenotype had abnormal ERG findings, and the majority exhibited both cone-rod and rod-cone dysfunction. We conclude that ERG is a valuable tool for the characterization of visual dysfunction in patients with the NCL phenotype and is useful for diagnosis.