Giulio Ruberto

Septo-optic dysplasia in childhood: the neurological, cognitive and neuro-ophthalmological perspective.

Aim  We set out to describe 17 patients with septo‐optic dysplasia (SOD), focusing on the little‐explored neurological, cognitive, and neuro‐ophthalmological components. A further aim was to identify possible clinical correlations and phenotypic characteristics within the diagnostic spectrum.

Morphologic and functional analysis of the optic nerve in premature and term children with OCT, HRT, and pVEP: A 10-year resurvey

PURPOSE Most studies on premature newborns have focused on infants of less than 28 weeks of gestational age (GA) due to their increased risk of developing diseases, such as premature retinopathy. Studies on premature infants born between 28 and 35 weeks GA with normal development are less frequent. The aim of our study was to identify subclinical morphologic or functional defects in these children. METHODS We evaluated 14 premature newborns at birth (mean gestational age, 33.45 weeks) with a neuro-ophthalmologic examination and patterned visual evoked potentials (pVEP). The same subjects were surveyed when they were young children (mean age, 7.5 ± 0.2 years) using Heidelberg retinal tomography (HRT) and optical coherence tomography (Stratus OCT). The pVEP studies were performed as transient (temporal frequency, 1.96 Hz) and steady-state (7.5-Hz temporal frequency). A complete ophthalmic examination also was performed. The data were compared to those from 15 term newborns who were examined in the same manner (mean age, 9.8 ± 0.3 years). RESULTS A statistically significant thickening of the macular temporal and inferior nerve fibers was found on OCT in premature newborns. The thickness of the superior and inferior retinal nerve fiber layer (RFNL) also was reduced. A difference also was found in rim area thickness based on HRT. Multiple significant P values were found in the VEP P100 peak time and steady-state amplitudes at the time of birth, but not at the time of morphologic analysis. CONCLUSIONS Healthy, premature newborns may have morphologic abnormalities of the optic nerve. These abnormalities do not cause visual acuity or functional decreases.

Évolution comparée des potentiels évoqués visuels chez des enfants nés à terme et prématurément

But de l’etude Comparer les potentiels evoques visuels par flash (fPEV) et pattern, aussi bien transitoires (pPEV-t) qu’en « steady state » (pPEV-ss), de nouveau-nes prematures avec ceux de nouveau-nes a terme et sains. Materiel et methodes Nous avons examine 29 enfants prematures (28-35 semaines d’âge gestationnel) et enregistre les fPEV, les pPEV-t et les pPEV-ss a diverses frequences spatiales, a l’âge de trois mois post-natal, a trois mois d’âge corrige, a huit mois d’âge post-natal et d’âge corrige. Nous avons compare ces resultats avec ceux obtenus en examinant 92 bebes a terme a l’âge de 3 et 8 mois. Resultats En ce qui concerne le pPEV-ss, les frequences spatiales percues etaient de 2 C/d dans le groupe de 3 mois d’âge post-natal, > 2 C/d dans le groupe de 3 mois d’âge corrige et de 3 mois a terme. Dans le groupe de 8 mois d’âge post-natal et de 8 mois a terme, elles etaient superieures a 5 C/d. Les latences des fPEV (onde P1) et des pPEV-t (onde P100) etaient de 192 ms et 207,9 ms respectivement, a l’âge de 3 mois post-natal ; de 144 ms et 137,7 ms a 3 mois d’âge corrige ; de 126,3 ms et 124,1 ms a 8 mois d’âge post-natal ; de 112,7 ms et 112,5 ms a 8 mois d’âge corrige ; de 137,3 ms et 110,1 ms a 3 mois a terme ; de 122,3 ms et 100,5 ms a 8 mois a terme. Discussion Dans le groupe des prematures de 3 mois d’âge corrige, les latences du fPEV sont semblables a celles des nouveau-nes a terme ; celles du pPEV-t sont retardees a 3 et 8 mois. En ce qui concerne le fPEV, les latences sont meilleures chez les prematures de 8 mois d’âge corrige que chez les nouveau-nes a terme. Une meilleure performance par rapport aux nouveau-nes nes a terme a ete relevee chez les sujets de 8 mois d’âge corrige pour la stimulation pPEV-ss. Conclusion A 8 mois d’âge corrige, les prematures recuperent la difference relative au fPEV et au pPEV-ss, mais non celle relative au pPEV-t. Les differentes reponses correspondant aux differents types de potentiels evoques visuels utilises suggerent que des voies semblables se developpent en temps legerement differents.PURPOSE To compare the development of the visual pathway in healthy preterm and full-term newborns using flash and patterned (both transient and steady-state) visual-evoked potentials (fVEP, pVEP-t, pVEP-ss). PATIENTS AND METHODS Twenty-nine preterm newborns (28-35 weeks gestational age) were evaluated at four different times: at 3 months postnatal and corrected age, at 8 months postnatal and corrected age. They were matched with 92 term newborns tested at 3 and 8 months of life. RESULTS The maximal perceived spatial frequencies in the groups were: 2 C/d at 3 months postnatal age, >2 C/d at 3 months corrected age and at 3 months at term, between 3 and 5C/d, >=5C/d at 8 months corrected age and at 8 months of life, respectively. The latencies of the P1 and P100 waves for the flash and the transient stimulation were, respectively, 192 ms and 207.9 ms at 3 months postnatal age, 144 ms and 137.7 ms at 3 months corrected age, 126.3 ms and 124.1 ms at 8 months postnatal age, 112.7 ms and 112.5 ms at 8 months corrected age, 137.3 and 110.1 ms at 3 months of life; and 122.3 and 100.5 ms at 8 months of life. DISCUSSION In the preterm infants of 3 gestational months, the latencies of the fVEP are comparable to those of the 3-month-old full-term infants, although the pVEP-t latencies are still delayed at 8 months. In the fVEP; however, we noted a shorter latency in the preterm infants at 8 months corrected age compared to those of the full-term infants. This tendency inversion was also evidenced at the steady-state stimulation. CONCLUSIONS As evidenced by our results, at 8 months of corrected age the preterm infants recovered the fVEP and pVEP-ss, but not the pVEP-t. Different results obtained with different visual-evoked stimulations suggest that similar neural pools are developed in not completely equal amounts of time.

Sviluppo della visione nei prematuri: uno studio elettrofisiologico

Sviluppo della visione nei prematuri: uno studio elettrofisiologico - Negli ultimi decenni lo sviluppo delle metodiche elettrofunzionali ha permesso di determinare in maniera oggettiva e sufficientemente precisa l’evoluzione visiva nei primi anni di vita. Nel presente lavoro viene descritto uno studio condotto su 92 nati a termine e 29 nati pretermine (tra 28 e 35 sett. di Eta Gestazionale). Tutti i soggetti sono stati sottoposti a valutazione elettrofisiologica con PEV flash, PEV pattern transient di tipo reversal, PEV pattern di tipo steady-state; tali esami sono stati praticati 2 volte (a 3 ed a 8 mesi di vita) nei nati a termine e 4 volte (a 3 mesi post-natali, a 3 mesi di eta corretta, a 8 mesi post-natali, a 8 mesi di eta corretta) nei prematuri. I risultati confermano l’utilita degli esami elettrofisiologici nello studio della maturazione neurovisiva del prematuro. Parole chiave: maturazione visiva, potenziali evocati visivi da flash (f-PEV), potenziali evocati visivi da pattern transient (p-PEV), potenziali evocati visivi da pattern steady-state (ss-PEV), elettroretinogramma

Gestione della periferia retinica avascolare in bambini prematuri dopo le 45 settimane di età post concezionale

La storia naturale di una periferia retinica avascolare o della presenza di neovascolarizzazione nell’ambito di una ROP dopo le 45 settimane di eta post concezionale e sconosciuta. L’insorgenza tardiva della malattia e rara e non c’e un chiaro consenso circa l’approccio terapeutico a queste forme. Gli Autori riportano la loro esperienza.

Cataratta congenita bilaterale in paziente affetto da sindrome di Hallerman-Streiff-François

La sindrome di Hallermann-Streiff-Francois (HSF) e un’anomalia congenita rara. I pazienti presentano alterazioni cranio-facciali, mandibolari e dentarie con o senza patologie muscolo-scheletriche, cardiache, respiratorie e ritardo mentale. La diagnosi e basata sui dati clinici: faccia ad uccello, dentizione anomala, ipotricosi, atrofia della cute, microftalmia e cataratta congenita (presenti nel 90% dei casi), bassa statura proporzionata. Questo articolo riporta il caso di un bambino affetto da tale sindrome.

Funzionalità visiva nel prematuro alimentato con infant formulae, con e senza integrazione di luteina

La luteina e la zeaxantina sono carotenoidi che costituiscono il pigmento maculare. Numerosi studi e trials clinici supportano il loro potenziale ruolo nella prevenzione e nel trattamento di alcune patologie oculari come la degenerazione maculare legata all’eta. I meccanismi biologici alla base degli effetti protettivi di questi carotenoidi includono filtrazione di luce blu intensa e proprieta antiossidanti. Lo stress ossidativo e definito come uno squilibrio tra fattori pro-ossidanti ed anti-ossidanti che puo portare a danno cellulare e tessutale. Il neonato, soprattutto se pretermine, e altamente soggetto a stress ossidativi, con ripercussioni sulla salute oculare. La luteina e presente nel latte umano ma non e generalmente integrata alle infant formulae. La supplementazione di luteina potrebbe aiutare a controllare l’iperproduzione di radicali liberi, proteggendo lo sviluppo visivo del bambino. Lo scopo di questo lavoro e comparare l’acuita e la funzione visiva di pretermine alimentati con infant formulae integrate con luteina con quelle di piccoli nutriti senza supplementazione della stessa.

Follow-up anatomico e funzionale di 47 occhi sottoposti a fotocoagulazione laser per ROP acuta

La retinopatia del prematuro e una delle principali cause di menomazione visiva e cecita nell’infanzia. L’ablazione della retina avascolare, inizialmente eseguita mediante crioterapia, ora piu frequentemente ottenuta tramite fotocoagulazione laser, riduce gli esiti strutturali sfavorevoli e migliora l’outcome funzionale. Gli Autori riportano uno studio retrospettivo inerente 47 occhi sottoposti a fotocoagulazione laser per ROP acuta tra il gennaio 2006 e il giugno 2011.

Un raro caso di membrana pupillare iperplastica

La membrana pupillare iperplastica persistente e un’alterazione oculare congenita non comune. Gli Autori riportano un caso a trasmissione ereditaria descrivendo le caratteristiche della lesione.

Relationship between visual acuity, visual evoked patterned potentials done at different spatial frequencies and fundus findings in more than 100 Cerebral Visual Impairment affected subjects.

Purpose: To analyze relationship between visual acuity (VA), visual evoked patterned potentials (VEP) and fundus state of the optic disk in children diagnosed by MR as cerebral visual impaired (CVI). Methods: Full clinical examinations, including Teller Acuity Cards (TAC) and/or optotype for decimal visual acuity, VEP and fundus optic disk findings , were done in 107 CVI affected infants (mean age 7,9±6). TAC were administered at spatial frequencies ranging from 0.23 to 38 cycles/degrees, at a distance varying from 84 to 55 cm. VEPs were recorded at Oz, O1, O2, referenced to Fz. Five black and white checks sizes, 300’,120’,60’,30’,15’, were presented. At least two spatial frequencies were performed depending upon the visual function. Statistical analysis: means and standard deviations were presented, correlation between VA and VEP, and association between optic disk features and VA were made. Results: Mean VA in decimal, was 3.55, ranging from 1.5 (p 25)to 4.8 (p 75). Percent success in TAC responses was 75. Mean VEP latencies in Oz varied from 112 ( 15’) to 105,9 ( 300’). Mean amplitudes varied from 18,8 ( 15’) to 22,3 (300’). VEP percent success was 77.6. A negative correlation coefficient ( r ) was found between VA and larger checks . A weak association was found between VA, VEP and optic disk features. Conclusions: Behavioural and objective tests correlate at different levels with fundus findings in CVI affected children, and are both useful in their follow-up.