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.

case series study of leber's congenital amaurosis: Clinical description and ERG findings

To evaluate the incidence of Leber's Congenital Amaurosis [LCA] in low vision children referred to electrophysiology ward of Farabi Eye Hospital, and review the clinical features of disease and Electroretiongraphy [ERG] test values to confirm the diagnosis and severity of the disease in Iran. Prospective observational case series. Two-hundred and fifteen cases of low vision infants and young children were referred to electrophysiology ward of Farabi Eye Hospital during 18 months. Clinical LCA diagnosis was made and ERG tests were done and LCA diagnosis was confirmed. The symptoms, signs and the results of eye examination and ERG findings were recorded. The mean age of the patients was 27.43 [range, 1-120 months]. Among low vision patients fourteen percent of patients had LCA. Fifty-four percent of the patients were female. Nystagmus and low vision were the two most common clinical manifestations of these patients. Hyperopia was the main refractive error [54.80%] and mild abnormalities in fundus examinations were found in 67.70% of cases. In nearly 90% of cases consanguinity was found. ERG was flat or unrecordable in more than 90% of cases, but in less than 10% of cases with recordable curves, severe decrease in amplitude of waves was encountered. ERG confirmed LCA diagnosis in 31 out of 37 patients [positive predictive value of 83.7%]. The incidence of LCA in low vision children is similar to other studies. ERG helped in confirmation of presence or absence of overall retinal dysfunction in the majority 31/37 [83.7%] of LCA patients. It can differentiate these cases from other cases with poor vision in infantile age but genetic testing is recommended