Clinical and visual electrophysiological characteristics of vitelliform macular dystrophies in the first decade of life

Purpose: To evaluate patterns of pediatric vitelliform macular dystrophy (PVMD). Methods: This is a retrospective analysis of Indian children with vitelliform macular dystrophy (VMD) presenting within the first decade of life. Records were evaluated for clinical findings, family screening, and investigative findings including optical coherence tomography (OCT), fundus autofluorescence (FAF), full?field electroretinogram (ERG) and electrooculogram (EOG). Electrophysiology was scrutinized and audited for acquisition and interpretation errors. Findings on follow?up were also recorded. Results: 46 eyes of 24 patients were included. Mean age at presentation was 7.17 ± 2.17 years. Mean follow?up duration was 1.55 ± 1.69 years. Best disease was the commonest type of VMD detected (21 patients), while autosomal recessive bestrophinopathy was seen in three cases. Mean logMAR BCVA was 0.364 which decreased to 0.402 on follow?up. Hyperopia was noted in 29 out of 46 eyes (mean being +3.87 D, range ebing +0.75 to +8.75 D). Four eyes of four children had choroidal neovascular membrane at presentation, while another child developed while in follow?up. Solid type subretinal deposit was the commonest OCT finding (n = 29/38) and central hyper FAF was the commonest pattern (n = 18/32). EOG was available for review in 32 eyes, but was unreliable in 11 eyes. Seven eyes demonstrated complete absence of light rise on EOG. Conclusion: PVMD can present in advanced forms. Progression to complications with loss of visual acuity can happen within the first decade of life. EOG shows grossly suppressed waveforms in the light phase in a large number of such children

Avaliação do Setor de Baixa Visão de pacientes gemelares com distrofia retiniana / Low vision center evaluation of twin patients with retinal dystrophy

Resumo É relatado o caso de duas pacientes gemelares idênticas do sexo feminino portadoras de distrofia retiniana em investigação. A principal hipótese diagnóstica é a amaurose congenita de leber. Foi realizada avaliação pelo setor de visão subnormal em centro oftalmológico, com orientação de uso de recursos ópticos e não ópticos para melhoria principalmente das relações socioeducativas das pacientes.

Abstract In this paper, we report a two identical female twin patients with retinal distrophy in investigation. The main diagnostic hypothesis is the leber congenital amaurosis. The patients were evaluated by the Low Vision Center at the Hospital Oftalmologico de Sorocaba, São Paulo-Brazil, using optical and non-optical resources for mainly patient's socio-educational relationship improvement.

Choroidal hyper-reflective foci and vascularity in retinal dystrophy

Purpose: To investigate choroidal hyper-reflective foci (HRF) in subjects with retinal dystrophy [Stargardt's disease (SGD) and retinitis pigmentosa (RP)] and their association with demographics, visual acuity, choroidal thickness (CT), and choroidal vascularity index (CVI). Methods: Single center retrospective study of subjects with previously diagnosed SGD or RP. Swept-source optical coherence tomography images were analyzed for the presence of choroidal HRFs and CVI using previously validated automated algorithm. A Spearman's rank correlation coefficient was used to evaluate the correlation between the number of HRF and various baseline parameters including age, visual acuity, intraocular pressure, and other optical coherence tomography (OCT) parameters (CT, choroidal area, and CVI) were evaluated in these subjects. Results: This study included 46 eyes (23 subjects) and 55 eyes (28 subjects) with previously diagnosed RP and SGD, respectively. In the RP group, the mean number of HRFs was 247.9 � 57.1 and mean CVI was 0.56 � 0.04. In SGD group, mean HRF was 192.5 � 44.3 and mean CVI was 0.41 � 0.04. Mean HRF was significantly greater in the RP group (0.02), however, the mean CVI was not statistically different. In RP, mean HRF were correlated only with CVI (r = 0.49; P = 0.001), however, in SGD, it correlated with only choroidal area (r = 0.27; P = 0.04). Conclusion: Choroidal HRF were present in both RP and SGD subjects with more HRFs in those with RP. These HRFs were associated with alteration in choroidal vascularity, which further adds into the pathogenesis of these diseases.

Autofluorescência em um caso de distrofia macular anular concêntrica benigna / Fundus autofluorescence in a case of benign concentric annular macular dystrophy

Resumo A distrofia macular anular concêntrica benigna (DMACB) é uma patologia retiniana rara e provavelmente subdiagnosticada em nosso meio, que se caracteriza por um defeito retiniano em bull's eye sem uso prévio de antimaláricos, associado à preservação relativa da acuidade visual. Devido à escassez de publicações sobre o tema, existem poucos dados referentes aos resultados dos exames complementares nesta patologia. No presente artigo, apresenta-se a descrição da autofluorescência em um caso clássico de DMACB, ainda inédita na literatura, podendo acrescentar achados importantes para auxiliar no diagnóstico e seguimento da doença.

Abstract The benign concentric annular macular dystrophy (BCAMD) is a very rare and probably underdiagnosed eye disease, characterized by a retinal fault in bull's eye pattern, without the association with antimalarial use, but related with good visual acuity. Since there aren't many publications about this condition, is hard to find data regarding the results of complementary examination. In this article, is presented the description of fundus autofluorescence in a classic BCAMD case, yet unpublished, and capable of helping the diagnosis and follow-up of this pathology.

Morphological and functional findings in Alström syndrome: a study of two families / Achados morfológicos e funcionais na síndrome de Alström: um estudo de duas famílias

ABSTRACT Alström syndrome is a rare disorder characterized by mutations to the ALMS1 gene and clinical findings of childhood obesity, diabetes mellitus, dilated cardiomyopathy, sensorineural hearing loss, and progressive cone-rod dystrophy, which may result in blindness. Ocular manifestations occur in the first decade of life with nystagmus, blepharospasm, and photophobia leading to progressive and severe reductions in visual acuity. This study describes the retinal structure and functional aspects of four patients (8 eyes) from two different families as determined by optical coherence tomography (OCT), fundus autofluorescence, and full-field electroretinography. There was a correlation between morphological and functional findings, evidenced by typical funduscopic changes of retinal dystrophy in spectral domain-OCT and electrophysiological analyses. Foveal characteristics include a single layer of undifferentiated photoreceptors with retinal disorganization mainly from external segments, in agreement with previous reports in the literature. Fundus autofluorescence showed areas of hyperautofluorescence interspersed by hypoautofluorescence dots suggesting, respectively, involvement and atrophy of retinal pigmented epithelial cells in the macular zone. Electroretinographic analyses showed early dysfunction of the cones followed by rapid rod deterioration.

RESUMO A síndrome de Alström é uma doença rara caracterizada por mutações no gene AMLS 1 e achados clínicos de obesidade infantil, diabetes mellitus, cardiomiopatia dilatada, surdez neurossensorial e distrofia de cones e bastonetes progressiva, que podem resultar em cegueira. Manifestações oftalmológicas ocorrem na primeira década de vida com nistagmo, blefaroespasmo e fotofobia, levando a reduções progressivas e graves na acuidade visual. Este estudo descreve a estrutura da retina e os aspectos funcionais de quatro pacientes (oito olhos) de duas famílias dis tintas, conforme determinado por tomografia de coerência óptica, autoflourescência de fundo de olho e eletrorretinograma de campo total. Houve correlação entre os achados morfológicos e funcionais evidenciados por alterações fundoscópicas típicas da distrofia retiniana no domínio espectral-OCT e análises eletrofisiológicas. As características foveais incluem uma única camada de fotorreceptores indiferenciados com desorganização retiniana principalmente nos segmentos externos, de acordo com relatos prévios da literatura. A autofluorescência de fundo mostrou áreas de hiperautofluorescência, sugerindo, respectivamente, envolvimento e atrofia das células do epitélio pigmentar da retina na região macular. Análises eletrorretinográficas mostram disfunção precoce de cones, seguida de rápida deteriorização da haste.

Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report / Achados oftalmológicos na displasia ectodérmica, ectrodactilia e síndrome da distrofia macular: relato de caso

ABSTRACT We report on a case of two sisters, daughters of consanguineous parents, presenting with a similar condition of low visual acuity associated with retinal dystrophy in both eyes associated with alopecia and bone alterations or syndactyly.

RESUMO Relatamos um caso de duas irmãs, filhas de pais consanguíneos, apresentando uma condição semelhante de baixa acuidade visual associado à distrofia retiniana em ambos os olhos associado à alopecia e alterações ósseas ou sindactilia.

The use of handheld spectral domain optical coherence tomography in pediatric ophthalmology practice: Our experience of 975 infants and children.

Purpose: Optical coherence tomography (OCT) is an important imaging tool assessing retinal architecture. In this article, we report a single centers experience of using handheld spectral domain (SD)‑OCT in a pediatric population using the Envisu 2300 (Bioptigen Inc., Research Triangle Park, NC, USA). Methods: We studied SD‑OCT images from 975 patients imaged from January 2011 to December 2014. The variety of cases that underwent an SD‑OCT was analyzed. Cases examples from different case scenarios were selected to showcase unique examples of many diseases. Results: Three hundred and sixty‑eight infants (37.7%) were imaged for retinopathy of prematurity, 362 children (37.1%) underwent the test for evaluation of suboptimal vision or an unexplained vision loss, 126 children (12.9%) for evaluation of nystagmus or night blindness, 54 children (5.5%) for an intraocular tumor or a mass lesion such as retinoblastoma, and 65 children (6.7%) for other diseases of the pediatric retina. The unique findings in the retinal morphology seen with some of these diseases are discussed. Conclusion: The handheld SD‑OCT is useful in the evaluation of the pediatric retinal diseases. The test is useful in the assessment of vision development in premature children, evaluation of unexplained vision loss and amblyopia, nystagmus and night blindness, and intraocular tumors (including retinoblastoma).

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 percent), 20/50-20/150 in 13 (56.5 percent) patients, 20/200-20/400 in 2 (8.7 percent) patients and worse than 20/400 in one (4.3 percent) 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 nondetectable in 21 (91.3 percent) patients, and cone responses were non-detectable in 15 (65.2 percent) patients. Elevated darkadapted visual thresholds were observed in all 19 patients who were able to be assessed, with 10 (52.6 percent) patients having thresholds greater than 30 dB. CONCLUSIONS: In a relatively young cohort of patients with Bardet-Biedl syndrome, only 21 percent 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.

Clinical Characteristics of Leber's Congenital Amaurosis in Korea

PURPOSE: To study the clinical characteristics and visual prognosis of Leber's congenital amaurosis in Korea. METHODS: Children who were diagnosed with Leber's congenital amaurosis at Seoul Natioanl University Children's Hospital between 1992 and 2004, were included in this study. The medical records pertaining to the clinical characteristics and visual outcomes of the patients were retrospectively reviewed. RESULTS: The mean age of the patients at presentation and during the subsequent follow-up period was 15.5 and 62.7 months, respectively. The principal symptoms included lack of fixation (69.0%) and nystagmus (23.8%). At first observation, nystagmus was found in 40 patients, and the appearance of the fundi were variable, including 'normal' (23.8%), pigmentary degeneration (54.8%), vascular attenuation (35.7%) and macular coloboma (19.0%). At the age of three to five years, 44.4% of patients had hyperopia greater than +5D. At the time of last follow-up, the visual acuities of the patients who were examined after the age of four were 'hand motion' in 68.7%, > or =20/400 in 9.4%. No patient had visual acuity better than 20/200. Eight (25%) patients could read with glasses or low-vision aids. CONCLUSIONS: The visual prognosis of patients with Leber's congenital amaurosis was poor in most cases, but a majority of our patients displayed a stable clinical course. Progression was rare, and one fourth of the patients were able to read with appropriate aides. In conclusion, regular follow-up care to assess visual function is necessary for optimal outcomes.

Clinical Characteristics of Leber's Congenital Amaurosis in Korea

PURPOSE: To study the clinical characteristics and visual prognosis of Leber's congenital amaurosis in Korea. METHODS: Children who were diagnosed with Leber's congenital amaurosis at Seoul Natioanl University Children's Hospital between 1992 and 2004, were included in this study. The medical records pertaining to the clinical characteristics and visual outcomes of the patients were retrospectively reviewed. RESULTS: The mean age of the patients at presentation and during the subsequent follow-up period was 15.5 and 62.7 months, respectively. The principal symptoms included lack of fixation (69.0%) and nystagmus (23.8%). At first observation, nystagmus was found in 40 patients, and the appearance of the fundi were variable, including 'normal' (23.8%), pigmentary degeneration (54.8%), vascular attenuation (35.7%) and macular coloboma (19.0%). At the age of three to five years, 44.4% of patients had hyperopia greater than +5D. At the time of last follow-up, the visual acuities of the patients who were examined after the age of four were 'hand motion' in 68.7%, > or =20/400 in 9.4%. No patient had visual acuity better than 20/200. Eight (25%) patients could read with glasses or low-vision aids. CONCLUSIONS: The visual prognosis of patients with Leber's congenital amaurosis was poor in most cases, but a majority of our patients displayed a stable clinical course. Progression was rare, and one fourth of the patients were able to read with appropriate aides. In conclusion, regular follow-up care to assess visual function is necessary for optimal outcomes.

Clinical Study of Symptoms and Various Anomalies of Patients with Joubert Syndrome

PURPOSE: Joubert syndrome is known to be an autosomal recessive disorder characterized by cerebellar vermian dysgenesis with many symptoms and variety of other malformations. We studied the relevant symptoms and various malformations of seven patients diagnosed as Joubert syndrome at our institution. METHODS: Seven children with cerebellar vermian dysgenesis consistent with Joubert syndrome were included in our study. Each child was diagnosed at the Seoul National University Children's Hospital from Feb. 1991 to Feb. 1995. We studied the frequency of each symptom of Joubert syndrome and the associated malformations of the selected cases. RESULTS: All seven patients had no family members affected. Also their parental consanguinity were not found. Sex ratio was 1.3 : 1 (4 males and 3 females) showing no significant sex difference. Ages at diagnosis were less than one year old. Six patients in our study had developmental delay, which was the most frequent symptom. Four patients had ataxia; four patients had hypotonia; three patients had abnormal ocular movements such as nystagmus or saccadic palsy; only one patient had episodic tachypnea in neonatal period; and in one case there were tongue protrusion and seizure, respectively. In two cases there were occipital meningoceles, agenesis of corpus callosum, and cleft palates, respectively. In one case there were cystic renal disorder, neuronal heterotopia, absence of septum pellucidum, and polydactyly, respectively. None had retinal dystrophy or chorioretinal coloboma. CONCLUSIONS: The cardinal symptoms of Joubert syndrome are unexplainable episodic tachypnea alternating with apnea during neonatal period, abnormal ocular movement such as nystagmus or saccadic palsy, ataxia, hypotonia, and developmental delay. The presence of such symptoms should alert the clinician to apply appropriate test such as neuroradiologic study including brain MRI etc. Some of the inconstantly associated features of Joubert syndrome include congenital retinal dystrophy, chorioretinal coloboma, and cystic kidney disease. The patients should be examined routinely with electroretinogram, fundoscopy, and kidney ultrasonogram for early detection or exclusion of the associated anomalies. We stress the importance of genetic counselling for the families of Joubert syndrome as well as that of the prompt supportive therapy for the patient.

HEREDITARY RETINAL DYSTROPHY OF rd MICE AND PHOTORECEPTORS APOPTOSIS / 解剖学报

Objective To study the development of hereditary dystrophic retina of rd mice and photoreceptors apoptosis. Methods Retinal sections of rd mice and their controls at different ages ranging from postnatal days 5 to 40 were examined by morphological(light and electronic microscope), morphometric and TUNEL analysis. Results Compared with age-matched control mice, the retinal dystrophy of rd mice began at postnatal days 10, resulting in rapid loss of photoreceptors and reaching a peak at postnatal days 18. TUNEL postitive nucleus of photoreceptor cells emerged from postnatal days 10 and reached a peak at postnatal days 14 and 16. Ultrastructure of photoreceptor cell layer showed marked nuclear pyknotosis and chromatin margination. Apoptotic bodies of photoreceptor cells were observed.Conclusion Rd mice retina degenerated during the process of maturity. Photoreceptor cell death occurred through apoptosis.