Nistagmo secundario a albinismo con compromiso ocular en paciente femenina: un desafío diagnóstico / Nystagmus secondary to albinism with ocular involvement in a female: a diagnostic challenge

INTRODUCCIÓN: El nistagmo infantil es infrecuente y representa un desafío diagnóstico para el pediatra. El albinismo es una de sus principales causas, siendo difícil de sospechar en ausencia de compromiso cutáneo evidente, especialmente en pacientes femeninas, debido a que tipo de herencia del albinismo ocular. OBJETIVO: Describir un caso de nistagmo secundario a albinismo con compromiso ocular aislado en paciente femenina, para discutir el enfoque diagnóstico pediátrico. CASO CLÍNICO: Paciente fe menino de 3 semanas de vida, sin antecedentes mórbidos, derivada a neuropediatra y oftalmólogo por movimientos oculares paroxísticos desde las 2 semanas, con estudio con electroencefalograma e imágenes cerebrales normales. A los 3 meses se confirmó translucencia iridiana, nistagmo y astigmatismo hipermetrópico. La valuación dermatológica descartó compromiso cutáneo. Evolucionó con inclinación cefálica hacia abajo y retraso del desarrollo de la coordinación, fue manejada con lentes de corrección y kinesioterapia. A los 3 años, destacaba mejoría de la agudeza visual, disminución del nistagmo y neurodesarrollo normal. La evaluación oftalmológica de ambos padres fue normal y no había antecedentes de nistagmo o albinismo en la familia. Por decisión de los padres no se realizó estudio genético. CONCLUSIÓN: El diagnóstico de nistagmo secundario a compromiso ocular del albinismo, aún en ausencia de afección cutánea, es clínico; el estudio genético permite confirmar la etiología, sin ser un examen imprescindible, a menos que se considere la planificación familiar. La pesquisa oportuna e intervención multidisciplinaria determinan un mejor pronóstico.

INTRODUCTION: Infantile nystagmus is an infrequent condition that represents a diagnostic challenge for the pediatri cian. Albinism is one of its main causes, being difficult to suspect in the absence of evident cutaneous involvement, especially in female patients, due to the inheritance type of ocular albinism. OBJECTIVE: To describe a case of nystagmus secondary to albinism with isolated ocular involvement in a female patient, in order to provide tools for pediatric approach and diagnosis. CLINICAL CASE: Three- weeks-old female patient, without morbid history, referred to a pediatric neurosurgeon and ophthal mologist due to paroxysmal eye movements since 2 weeks of age. The electroencephalogram and brain images were normal. In follow-up monitoring at 3 months, iris translucency, nystagmus, and hypermetropic astigmatism were confirmed. Dermatologic evaluation ruled out cutaneous invol vement. The patient developed cephalic downward inclination and coordination development de lay was confirmed, the patient was handled with corrective lenses and kinesiotherapy. In follow-up monitoring at 3 years, there was an improvement in visual acuity, decreased nystagmus and normal neurodevelopment. The ophthalmological evaluation of both parents was normal and there was no history of nystagmus or albinism in the family. Upon her parents' decision, no genetic study was ca rried out. CONCLUSION: The diagnosis of nystagmus secondary to ocular albinism, even in the absence of cutaneous involvement, is clinical. The genetic study allows confirming the etiology, without being an essential examination, unless family planning is considered. Timely research and multidisciplinary intervention determine a better prognosis.

Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect mutation of GPR143 gene in a Chinese patient affected with ocular albinism.</p><p><b>METHODS</b>Peripheral blood samples were collected from the proband and his parents. The coding regions of the GPR143 gene were subjected to PCR amplification and Sanger sequencing.</p><p><b>RESULTS</b>A previously unreported mutation (c.758T>A) was found in exon 6 of the GPR143 gene in the proband and his mother. The same mutation was not found in his father. As predicted, the mutation has resulted in a stop codon, causing premature termination of protein translation.</p><p><b>CONCLUSION</b>A novel mutation of the GPR143 gene related to X-linked ocular albinism has been identified.</p>

Perfil do paciente albino com visão subnormal e melhoria da acuidade visual com a adaptação de recursos ópticos e/ou eletrônicos / Profile of albinism with low vision and improvement of visual acuity with the adaptation of optical and / or electronic resources

RESUMO Objetivo: Determinar o perfil do paciente albino no departamento de visão subnormal do Instituto Benjamin Constant. Ressaltar o tempo de acompanhamento, a frequência do seguimento, e a melhora visual com a adaptação de recursos ópticos e/ou eletrônicos. Métodos: Estudo retrospectivo com dados de 77 pacientes albinos com idade entre 1 a 53 anos de idade atendidos no Instituto Benjamin Constant, entre 2003 e 2014. Resultados: O recurso óptico mais adaptado foi o telescópio de Galilleu 2.8x. Todos os pacientes referiram ganho de visão com os equipamentos. A maioria dos pacientes apresentaram acuidade visual com recursos ópticos entre 20/25 e 20/160. Conclusão: Os recursos ópticos auxiliaram na melhora da função visual e na qualidade de vida dos pacientes com albinismo ocular.

ABSTRACT Objective: Determine the profile of albinism in Low Vision Department of Benjamin Constant Institute. Highlight the follow-up, the frequency of follow-up, and the visual improvement with the adaptation of optical and / or electronic resources . Methods: A retrospective study with data from 77 patients with ocular albinism aged 1- 53 years old attended at Benjamin Constant Institute between 2003 and 2014. Results: The most suitable optical feature is the telescope Galilleu 2.8x . All patients reported gain vision with the resources . Most patients experienced visual acuity with optical devices between 20/25 - 20/160 . Conclusion: Optical resources assisted in the improvement of visual function and quality of life of patients with ocular albinism.

Mellizas con albinismo oculocutáneo / Twins with oculocutaneous albinism

El albinismo oculocutáneo (AOC) comprende un grupo de trastornos de herencia autosómica recesiva, producidos por una alteración en la vía sintética de la melanina en la piel, el peloy los ojos. Clínicamente se caracteriza por lahipopigmentación cutánea, ocular y pilar, asociada a alteraciones oculares, como fotofobia severa, disminución de la agudeza visualynistagmo. El AOC tipo 1es producido por mutaciones en latirosinasa, enzima codificada por el genTYR (11q14-q21), habiéndose identificado más de 270 mutacioneshasta la fecha. Presentamos el caso de mellizasnacidas pretérmino, de 14 meses de vida, producto de un embarazo controlado, con AOC. Destacamos la escasa frecuencia de presentación de esta patología en pacientes mellizos.

Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by a defective synthesis of melanin in the skin, hair and eyes. It is clinically characterized by a generalized reduction of pigment in the skin, eyes and hair, associated with ocular alterations, as severe photosensitivity, reduced vision and nystagmus.The OCA type 1 is caused by mutations in the tyrosinase, enzyme that is codified by TYR (11q14-q21), with more than 270 mutations identified up to date. We report the case of preterm 14 month-olddizygotic females twinsfrom a controlled pregnancy, with OCA. We emphasize the low frequency of presentation of this disease in dizygotic twins.

Clinical Manifestations of Foveal Hypoplasia

PURPOSE: To estimate the baseline demographic/ocular characteristics and associated findings of patients with foveal hypoplasia. METHODS: The medical records of 42 patients (84 eyes) who were clinically diagnosed with foveal hypoplasia were retrospectively reviewed. RESULTS: There were 28 males and 14 females with mode age at diagnosis of 1 (range, 0-60 years) year and a mean follow-up period of 9.7 +/- 5.4 years. At the first office visit, the most common complaints were ocular oscillation and face turn. There were 75 eyes (91.5%) with best corrected visual acuity worse than 0.3 at the first visit, but that number decreased to 55 eyes (67.1%) at the last follow-up (age range, 7-60 years). The absolute spherical equivalent of refractive errors was 2.89 +/- 2.96 diopters (D), and 71 eyes had astigmatism with a mean astigmatism of 2.1 +/- 1.1 D. Forty-two patients had associated diseases: 15 (35.7%) with aniridia, 16 (38.1%) with ocular albinism and 11 (26.2%) with oculocutaneous albinism. In addition, strabismus was found in 24 patients (57.1%). CONCLUSIONS: Diseases associated with foveal hypoplasia include aniridia, ocular albinism and oculocutaneous albinism. Since foveal hypoplasia is often associated with high refractive errors and poor vision, an early prescription of eyeglasses is mandatory for management of refractive amblyopia to ensure the development of the best corrected visual acuity.

Optical Coherence Tomography Findings in Three Cases of Albinism

PURPOSE: To report optical coherence tomography (OCT) findings in albinism. METHODS: Full ocular examinations, including OCT, were performed in one patient with ocular albinism and two patients with oculocutaneous albinism. RESULTS: OCT scans were unable to detect the foveal depression in these patients. A widespread thickening of the retina occurred throughout the entire fovea, which showed no difference from the surrounding macula. OCT scans also demonstrated probable scleral layer below the retinal pigment epithelial (RPE) layer. CONCLUSIONS: OCT scans of albinism patients confirmed foveal hypoplasia and increased transmission of incident light in the RPE layer.

Albinismo ocular ligado ao Cromossomo X: Relato de uma família brasileira / X linked ocular albinism: Report of a brazilian family

O albinismo ocular de herança ligada ao cromossomo X é uma doença genética rara. Clinicamente os homens apresentam-se com nistagmo, fotofobia, baixa acuidade visual e hipopigmentação generalizada do epitélio pigmentar retiniano com hipoplasia macular. Portadoras femininas (heterozigotas) são assintomática e podem apresentar defeitos de transiluminação irianos e fundos em mosaico (Mud Splattered). Relatou-se a primeira família brasileira descrita em literatura indexada. São cinco pacientes de uma mesma família (três homens e duas mulheres) com caracteristicas clínicas de albinismo ocular do tipo 1 incluindo defeitos de transiluminação iriano e fundos retiniano em mosaico. Enfatiza-se o fato de que uma das mulheres relatadas apresenta aspecto fundoscópico albino, que é raramente descrito, semelhante aos descritos para os pacientes do sexo masculino

A Case of Squamous Cell Carcinoma in Oculocutaneous Abinism / 대한피부과학회지

Albinism is an inherited ongenital disarder in which there is sgr neralized decrease or absence of pigrnent in the eyes, skin, and hair. There are two general groups (1) Oculocutneou albinism, (2) Ocular albinism. Skin cancers in albinos are rare in ternperate clirnats and t.hey occur rnostly on sun ex posed areas. We present a case of recurrance of squarnous cell carcinoma ir a Korean albinoid on both sides of the neck and right ear. On liistopathologic examination, we find I or pearls, and irregular mases of epidermal cells that proliferite downward into the devmis. The invaing cell masses are composed of atypical squamous cells.

Albinism and Hermansky-Pudlak syndrome in Puerto Rico

Five types of oculocutaneous albinism and two types of ocular albinism were found among 349 Puerto Rican albinos. The most prevalent type of albinism was the Hermansky-Pudlak syndrome (HPS). HPS was observed in five of every six albinos in Puerto Rico. The prevalence of HPS was highest in the northwestern quarter of the island, affecting approximately one in 1,800 persons, and approximately one in 22 are carriers of the gene. HPS is an autosomal recessively inherited triad of a tyrosinase-positive type of albinism, a hemorrhagic diathesis due to storage pool deficient platelets and accumulation of ceroid in tissues. The pigmentary phenotype of HPS albinos resembled that of any other type of oculocutaneous or ocular albinism. The most reliable method of diagnosing HPS is by a deficiency of platelet dense bodies observed by electron microscopy. The accumulation of ceroid in the tissues is associated with fibrotic restrictive lung disease and granulomatous enteropathic disease. The enteropathic disorder resembles Crohn's disease and with few exceptions, had its onset after 13 years of age. The major causes of death were fibrotic restrictive pulmonary disease, hemorrhagic episodes and sequelae of granulomatous enteropathic disease. Menometrorrhagia was common in women with HPS. No immune deficiency was found in HPS patients. The majority of patients with HPS had visal acuities of 20/200 or worse and consequently were legally blind. Albinos of all types, including HPS, lacked binocular...

Two Cases of Ocular Albinism

Ocular albinism is a rare condition of abnormality in the cellular metabolism of the product of melanin in the ocular tissue. This disease is transmitted as an imtermediate sex linked recessive. This condition was first described by Nettleship in 1909. In addition, many authors described this condition. The fundamentalelinical symptoms and signs are lowered visual acuity, photophobia, nystagmus, the yellow-orange color of the fundus with the choroidal vessels perfectly visible, absence of the foveal reflex and iris that transilluminates well with scleral illumination. Recently, we experienced two cases of typical ocular albinism.