Características visuales en el albinismo: Revisión sistemática

El albinismo es una condición compleja, en muchos casos incapacitante, afectando a muchas personas alrededor del mundo, incluso puede conducir a la muerte. Los problemas visuales más comunes que pueden existir en el albinismo con fotofobia son defectos refractivos con medidas considerables, problemas a nivel de fondo de ojo, fotofobia y translucencia de iris. La realidad actual estima que 1 de cada 10.000 personas tienen albinismo y pueden presentar estos problemas visuales. Objetivo. Identificar las características visuales en cada tipo de albinismo presentados en los estudios de Latinoamérica durante el periodo 2014-2022. Metodología. Se realizó una revisión sistemática. Como criterios de inclusión se tomó en cuenta el año de publicación de las fuentes. Se utilizaron los siguientes descriptores de búsqueda en español y en inglés: "albinismo", "tipos de albinismo" y "complicaciones albinismo", "albinism", "albinism types", "albinism issues". Resultados. Fueron seleccionados 22 artículos obtenidos de Google Académico, revistas como pubmed, scielo, Elsevier, tesis, de los cuales y basado en controles de calidad se analizaron 12 fuentes. Conclusión. La mayoría de estudios describen tratamientos posibles para el albinismo. Se resaltan hallazgos clínicos que destacan las características en los tipos de albinismo como lo son problemas a nivel del nervio óptico como la hipoplasia, y disminución de la agudeza visual, nistagmus y en ocasiones el problema de posición compensatoria de cabeza.

Albinism is a complex condition, in many cases disabling, affecting many people around the world, and can even lead to death. The most common visual problems that may exist in albinism with photophobia are refractive defects with considerable measurements, problems at the fundus level, photophobia and iris translucency. Current reality estimates that 1 in 10,000 people have albinism and may present with these visual problems. Objective. To identify the visual characteristics in each type of albinism presented in studies in Latin America during the period 2014-2022. Methodology. A systematic review was performed. The year of publication of the sources was taken into account as inclusion criteria. The following search descriptors were used in Spanish and English: "albinism", "types of albinism" and "albinism complications", "albinism", "albinism types", "albinism issues". Results. Twenty-two articles obtained from Google Scholar, journals such as pubmed, scielo, Elsevier, theses were selected, from which and based on quality controls 12 sources were analyzed. Conclusion. Most studies describe possible treatments for albinism. Clinical findings that highlight the characteristics in the types of albinism such as problems at the level of the optic nerve as hypoplasia, and decreased visual acuity, nystagmus and sometimes the problem of compensatory head position are highlighted.

O albinismo é uma condição complexa e, em muitos casos, incapacitante, que afeta muitas pessoas em todo o mundo e pode até levar à morte. Os problemas visuais mais comuns que podem existir no albinismo com fotofobia são defeitos de refração de tamanho considerável, problemas no nível do fundo do olho, fotofobia e translucidez da íris. A realidade atual estima que 1 em cada 10.000 pessoas tem albinismo e pode apresentar esses problemas visuais. Objetivo. Identificar as características visuais em cada tipo de albinismo apresentado em estudos na América Latina durante o período de 2014 a 2022. Metodologia. Foi realizada uma revisão sistemática. O ano de publicação das fontes foi levado em consideração como critério de inclusão. Foram usados os seguintes descritores de busca em espanhol e inglês: "albinismo", "tipos de albinismo" e "complicações do albinismo", "albinismo", "tipos de albinismo", "questões de albinismo". Resultados. Foram selecionados 22 artigos do Google Scholar, revistas como pubmed, scielo, Elsevier, teses, dos quais 12 fontes foram analisadas com base em controles de qualidade. Conclusão. A maioria dos estudos descreve possíveis tratamentos para o albinismo. Os achados clínicos destacam as características dos diferentes tipos de albinismo, como problemas no nervo óptico, como hipoplasia, diminuição da acuidade visual, nistagmo e, às vezes, problemas compensatórios na posição da cabeça.

Research progress of Netrin-1 in eye diseases / 国际眼科杂志(Guoji Yanke Zazhi)

@#Netrin-1 is a neuronal axon guidance factor, a soluble protein secreted by the cell floor, and is among the most widely studied members of the Netrins family.Netrin-1 has the diversity of receptors, and its binding to different receptors can activate different biological effects, resulting in multiple functions. Recent studies have revealed that Netrin-1 is closely associated with neural axon guidance, inflammatory responses, neovascularization, apoptosis, and other responses. It can act not only in the central nervous system, but also in many systemic diseases such as those of the respiratory and cardiovascular systems, making it an important target for the treatment of these diseases. In the field of ophthalmology, Netrin-1 is closely associated with optic nerve hypoplasia(ONH), corneal disease, diabetic retinopathy(DR), age-related macular degeneration(ARMD), and retinoblastoma(RB), and has very promising applications in the prevention and treatment of these diseases. In this review, we will explore the association of Netrin-1 with ocular diseases and its role.

Hipoplasia segmentar superior de nervo óptico: diagnóstico diferencial com glaucoma / Superior segmental optic nerve hypoplasia: differential diagnosis with glaucoma

Resumo As alterações congênitas do nervo óptico são raras. A hipoplasia é a forma mais comum de alteração congênita do nervo óptico. Acredita-se que seja correlacionada à interrupção do desenvolvimento fetal e ao baixo peso ao nascer. Apresenta-se como uma anomalia não progressiva com acuidade visual geralmente preservada. Relatamos um caso de uma paciente com hipoplasia segmentar superior com hipertensão ocular após uso de corticoide, cursando com diminuição da camada de fibras nervosas. Os pacientes portadores de hipoplasia devem ser acompanhados com mais rigor caso tenham fatores de risco para glaucoma e deve ser considerada como um diagnóstico diferencial para o glaucoma de pressão normal.

Abstract Introduction: Congenital changes of the optic nerve are rare. Hypoplasia is the most common form of congenital alteration of the optic nerve. It is believed to be correlated with interruption of fetal development and low birth weight. It presents as a non-progressive anomaly with generally preserved visual acuity. We related a case of a patient with superior segmental hypoplasia with ocular hypertension after corticosteroid use, with a decrease in the nerve fiber layer. Patients with hypoplasia should be followed more closely if they have risk factors for glaucoma and should be considered as a differential diagnosis for normal pressure glaucoma.

Estafiloma peripapilar, presentación clínica y diagnósticos diferenciales en anomalías congénitas de nervio óptico / Peripapillary staphyloma, clinical presentation, and differential diagnoses in congenital optic nerve anomalies

Un paciente de 3 meses con sospecha de estrabismo presenta al examen una gran anisometropía con -9.50 esfera en su ojo izquierdo y al fondo de ojo destaca una papila alterada similar a la papila de Morning-Glory. Las anomalías congénitas de nervio óptico (ACNO) son un grupo de condiciones que se presentan clínicamente como baja agudeza visual, estrabismo y/o nistagmus. El diagnóstico dife-rencial es clínico y complejo por la sobre posición morfológica entre estas. Los principales diagnósticos diferenciales son la papila deMorning-Glory, el coloboma y la hipoplasia de nervio óptico. Se recomienda manejo multidisciplinario por sus asociaciones sistémicas.

A 3-month-old patient with a suspicion of strabismus on examination has a great anisometropia with -9.50 sphere in his left eye and at the fundus examination an altered papilla similar to the Morning-Glory papilla. Congenital optic nerve abnormalities (ANOC) are a group of conditions that present clinically as low visual acuity, strabismus, and nystagmus. The differential diagnosis is clinical and complex due to the morphological position between them. The main differential diagnoses are the Morning-Glory papilla, the coloboma, and optic nerve hypoplasia. Multidisciplinary management is recommended for its systemic associations.

Optical coherence tomographic findings in optic nerve hypoplasia.

We investigated a case of unilateral optic nerve hypoplasia using spectral domain optical coherence tomography (SDOCT). Optical coherence tomography was done on both eyes using 5‑line Raster scan for the fovea to analyze the retinal nerve fiber layer thickness, inner retinal layer thickness, outer retinal layer thickness, and optic disc cube scan for the disc. Retinal nerve fiber layer thickness, inner retinal layer thickness, and outer retinal layer thickness were manually measured at 21‑points of each five lines, and results were compared between both eyes. Retinal nerve fiber layer thickness and inner retinal layer thickness of optic nerve hypoplasia were significantly thinner than the opposite eye, but there was no significant difference in the thickness of the outer retinal layer between both eyes.

Displasia septo-optica. Evaluación clínica, endocrinológica y neuro-radiológica. Seguimiento de 46 pacientes pediátricos / Septo-optic dysplasia. Clinical, endocrinological, and neuroradiological evaluation. Follow-up of 46 pediatric patients

La displasia septo-óptica (DSO) es una condición rara y altamente heterogénea, definida por la combinación de hipoplasia del nervio óptico (HNO), malformaciones cerebrales de la línea media, tales como aplasia/hipoplasia de septum pellucidum y cuerpo calloso, e insuficiencia hipotálamo-hipofisaria de grado variable. Se realizó un trabajo que tuvo como objetivo caracterizar la población de pacientes con diagnóstico de DSO seguidos en nuestro Hospital durante 7 años. Se incluyeron 46 pacientes (18 mujeres) que fueron divididos en 2 grupos, según tuviesen o no insuficiencia hipotálamo-hipofisaria (IHH). El 58.7% (n=27) presentó IHH de algún tipo, mientras que el 41.3% (n=19) no la presentó. En aquellos 19 pacientes con IHH se diagnosticaron deficiencia de GH y TSH (85.1%) y de ACTH (48.1%). La longitud corporal (mediana) del grupo con IHH fue más baja (p = 0,01) que la del grupo sin IHH, a pesar de que la edad fue menor a 2 años en todos los casos. Los pacientes fueron seguidos 1,3-8,3 años. Se observaron incidencias similares de agenesia del cuerpo calloso, del septum pellucidum, y ventriculomegalia, pero las alteraciones del desarrollo cortical se observaron con mayor frecuencia en los pacientes sin IHH. La ictericia neonatal, convulsiones y/o hipoglucemia, y micropene en neonatos y lactantes con DSO se presentaron en el subgrupo con IHH. El 58,7% de los pacientes con DSO presentaron algún grado de insuficiencia hipotálamo-hipofisaria. En la mayoría de los casos el diagnóstico de IHH no se realizó en el momento de aparición de los síntomas, sino más tardíamente en su seguimiento. En el 45% de los pacientes se evaluaron alteraciones radiológicas del SNC, específicamente en la región hipofisaria. Una fracción importante de las deficiencias de TSH/T4 (36,4%), GH (50%) y ACTH (23%) aparecieron mas tardíamente en el curso de la evolución. En 10 niños con déficit de hormona de crecimiento (2 tests farmacológicos sin respuesta) se realizó el tratamiento sustitutivo con rhGH (durante un periodo de 4±3 años), observándose una mejoría promedio de + 1,5 SDS en la talla de estos pacientes. En conclusión, la hipoplasia neonatal de nervios ópticos, asociada o no a ictericia e hipoglucemia, debe ser un signo de alarma para el diagnóstico de DSO, con riesgo de insuficiencia suprarrenal, shock y muerte, y puede requerir, por lo tanto, urgente tratamiento. Las deficiencias pueden aparecer en el curso de la evolución, a pesar del carácter congénito de la anomalía. Finalmente, se deben sustituir las deficiencias hormonales y tener presente que el tratamiento con rhGH puede mejorar la talla final en estos pacientes (AU)

Septo-optic dysplasia (SOD) is a rare and highly heterogeneous condition consisting of a combination of optic nerve hypoplasia (ONH), midline brain abnormalities, such as aplasia/hypoplasia of the septum pellucidum (ASP) and corpus callosum; and variable degree of hypoyalamo-pituitary insufficiency. The aim of this study was to characterize a population of SOD patients diagnosed and followed at the Garrahan Pediatric Hospital, from 1989 to 2006. We included 46 patients (18 females), that were divided into two groups according to the presence or absence of hypothalamic-pituitary insufficiency (IHH). Fifty nine% of SOD patients presented with IHH. GH and TSH deficiencies were diagnosed in 85.1% of IHH patients, while ACTH deficiency was found in 48.1%. Height (median) for the IHH group was shorter (p = 0,01) than for the group without IHH. Patients were followed for 1.3-8.3 years. Similar incidence of corpus callosum and/or septum pellucidum agenesis and ventriculomegaly were found in the two groups, but we observed more association with cortical developmental disorders in patients without IHH. In newborns, the association of ophthalmologic disorders and jaundice, seizures and/or hypoglycemia and micropene should frequently lead to the diagnosis of SOD and IHH. While 58,7% of DSO patients presented with hypothalamic-pituitary deficiency, only 45% of them showed sellar radiological abnormalities. Although SOD is a congenital disease, hormonal deficiencies may appear during follow-up. In 10 children with SOD and GH deficiency, rhGh treatment (for 4±3 years) improved height in 1.5 SDSs. In conclusion: in newborns with nerve optic hypoplasia, associated or not with jaundice, seizures and hypoglycaemia, the diagnosis of SOD and IHH should be considered. Treatment could be an emergency need because of risk of adrenal insufficiency and hypoglycemia (AU)

Clinical Manifestations of Optic Nerve Hypoplasia

PURPOSE: To estimate the baseline demographic and ocular characteristics of patients with optic nerve hypoplasia (ONH), and to analyze the different features and frequency of coexistent CNS abnormalities and pituitary hormone deficiency. METHODS: The authors reviewed the medical records of the patients who were seen between January 1988 and July 2005. Eyes with disc-to-macula / disc diameter ratio of 3.0 or more were eligible. The study comprised 70 patients (45 male, 25 female) and the average age was 6.4 years. RESULTS: Ocular manifestations included strabismus and nystagmus in 60 patients (85.7%) and 23 patients (32.9%), respectively. Eighty-four patients (87.5%) had visual acuity of 0.3 or less. Neuroradiologic examination of 27 patients revealed two with septo-optic dysplasia, two with pituitary hypoplasia, one with an absence of corpus callosum, one with diffuse encephalomalacia, one with a cerebral infarction in the right cerebral hemisphere, and one with a cerebellar injury. Of 12 patients who had undergone a clinical laboratory test, two had isolated growth hormone deficiency, one had a combined deficiency of growth hormone and gonadotropin and one had a combined deficiency of growth hormone and thyrotropin. CONCLUSIONS: Ocular features frequently associated with ONH are strabismus, nystagmus and poor vision. ONH is often associated with a wide variety of central nervous system abnormalities and pituitary hormone defect, so a systematic approach to patients with ONH is always recommended.

Clinical Characteristics of the Congenital Optic Nerve Abnormalities

PURPOSE: To identify clinical characteristics, associated ocular and systemic abnormalities, and the visual prognosis of congenital optic nerve abnormalities. METHODS: The medical records of the patients who were diagnosed to have congenital optic nerve abnormalities between 1987 and 2001 were retrospectively reviewed. RESULTS: Of the 152 patients (M: F=92: 60, 216 eyes), 42% had bilateral abnormalities. Mean follow up period was 33 months. Percentages of the congenital optic nerve abnormalities were as follows; optic nerve hypoplasia 42%, optic disc coloboma 34%, peripapillary staphyloma 9%, morning glory disc anomaly 8%, myelinated nerve fibers 5%, and optic disc aplasia 2%. Brain MRI was done in 56 patients and abnormalities were found in 64%. Associated ocular abnormalities were found in 36% of total patients and associated systemic abnormalities were found in 26%. Refractive error, especially myopia was common. Occlusion therapy was done in 57 patients and the visual acuity of 4 patients improved after follow-up of 20 months. CONCLUSIONS: Optic nerve hypoplasia was the most common congenital optic nerve abnormality. Attention must be paid to detect the associated ocular and systemic abnormalities. Visual prognosis was generally poor, but the best-corrected visual acuity must be achieved with the correction of refractive error and occlusion therapy.

Two Cases of Topless Optic Disc Syndrome

Topless optic disc syndrome is considered as congenital optic nerve hypoplasia.The risk factors of this syndrome are female sex, prematurity and history of maternal diabetes.Normal central visual acuity, thinning of superior peripapillary nerve fiber layer and corresponding inferior visual field defects are the characteristic features of this syndrome.Relative superior entrance of central retinal vessels and superior scleral halo can be found in patients with this syndrome. We experienced two cases of topless optic disc syndrome :one was unilateral and the other, bilateral. They had no history of maternal diabetes. Diffuse superior retinal nerve fiber layer atrophy and inferior visual field defects were observed.Pallor of superior optic neural rim, relative superior entrance of central retinal vessels and superior scleral halo were also observed. It will be necessary to differentiate these findings from glaucomatous optic disc damage and visual field defects.

A Case of Septo-Optic Dysplasia / 대한소아신경학회지

The septo-optic dysplasia, or de Morsier syndrome is a developmental anomaly characterized by involvement of the septum pellucidum, optic system and hypothalamic-pituitary axis. We had experienced a case of septo-optic dysplasia in 8 month-old female. A magnetic resonance imaging of the brain showed isolated absent septum pellucidum. And ophthalmoscopic examination showed right optic nerve hypoplasia, exotropia of right eye.

Ocular Fundus Findings in Children with Strabismus

The authors have examined 980 children with strabismus who were 6 years of age or under at the Eye Clinic of Yeungnam University Hospital. This study was conducted during the 4-year period between January 1990 and December 1994. The main objective of this study was to determine the incidence and clinical characteristics of fundus abnormality in children with strabismus. The total number of subjects in this study are 980 cases. Sixty subjects(6.1%) are found to have optic disc, chorioretinal and vitreous anomalies. Among them, 26 cases(43%) are diagnosed as having optic nervehypoplasia, in 7 cases (12%) coloboma, in 4 cases(7%) morning glory syndrome, in another 4 cases persistent hyperplastic primary vitreous, and in 3 cases retinoblastoma. In our study, 6.1% of the patients with strabismus are found to have disorders in optic disc and vitreoretina. These finding suggests that infants and young children with strabismus should have been examined to detect other related disorders of the eye.

A Case of Septo-Optic Dysplasia-Schizencephaly Complex

Septo-optic dysplasia is diagnosed when optic nerve hypoplasia is combined with dysgenesis of the septum pellucidum and nearly two-thirds of them have hypothalamic-pituitary dysfunction. A number of these patients have schizencephaly and usually present seizures. The migrational disorders including schizencephaly, lissencephaly, heterotopia and polymicrogyria are a rare group of congenital malformations of the brain Septo-optic dysplasia-schizencephaly complex is frequently associated with endocrinolo gic, ophthalmologic, and neurologic symptoms and signs. We recently experienced a case of septo-optic dysplasia-schizencephaly, who showed severe visual impairment associated nystagmus and bilateral optic nerve hypoplasia agenesis of septum pellucidum with schizencephaly and hypsarrythmia. Because some forms of migrational disorders and septo-optic dysplasia can be inherited, parental counseling is essential for the accurate diagnosis.

A Case of Septo-Optic Dysplasia

The association of abnormalities of the optic nerves, optic chiasm, and optic tracts with anomalies of the midline structures in the brain-an absent septum pellucidum etc was reported and called "septo-optic dysplasia". Also, it was noted that septo-optic dysplasia could be associated with hypopituitary dwarfism. It occurs more commonly in first born children and children born to young or diabetic mothers. We report a case of septo-optic dysplasia with literature, who had complained of severe visual impairment associated with nystagmus, bilateral optic nerve hypoplasia, absent septum pellucidum, and normal range of hormone studies.