[Decreased vision due to hypovitaminosis A in children with food selectivity]. / Disminución visual por hipovitaminosis A en niños con selectividad alimentaria.

INTRODUCTION: Vitamin A deficiency can cause eye disease and has been related to food selectivity in children with autism spectrum disorder (ASD). METHODS: A series of 13 pediatric patients with severe ophthalmological involvement as an initial manifestation of hypovitaminosis A is described. RESULTS: With significant Vitamin A deficiency, neuroimaging was performed in 11 patients. Of these, 8 had pathological findings with the presence of cranial hyperostosis. Lumbar puncture was performed in these patients and endocranial hypertension was detected in 7 of the 8 patients. All had food selectivity and 61.5% had ASD. CONCLUSIONS: Toxic-nutritional optic neuropathy is a rare pathology in children and presents with progressive, bilateral and painless visual loss due to damage to the optic nerve, which can generate severe and irreversible damage to it. Food history allows early detection of nutrient deficiencies in children with restrictive feeding, especially in neuro-atypical patients. This is essential to implement preventive measures and treatment with vitamin A in order to avoid irreversible consequences.

Introducción: La deficiencia de vitamina A puede producir enfermedad ocular y se ha relacionado con la selectividad alimentaria en niños con trastorno del espectro autista (TEA). Métodos: Se describen una serie de 13 pacientes pediátricos con compromiso oftalmológico grave como manifestación inicial de hipovitaminosis A. Resultados: Con deficiencia significativa de Vitamina A, en 11 pacientes se realizaron neuroimágenes. De ellos, 8 tuvieron resultados patológicos con presencia de hiperostosis craneal. En estos se realizó punción lumbar y en 7 de los 8 pacientes se detectó hipertensión endocraneana. Todos tenían selectividad alimentaria y el 61.5 % TEA. Conclusiones: La neuropatía óptica toxico-nutricional es una enfermedad poco frecuente en niños y se presenta con pérdida visual progresiva, bilateral e indolora debido al daño del nervio óptico, pudiendo generar lesión severa e irreversible del mismo. La anamnesis alimentaria permite la pesquisa temprana de deficiencias de nutrientes en niños con alimentación restrictiva, especialmente en pacientes neuro atípicos. Esto es esencial para implementar medidas de prevención y el tratamiento con vitamina A con el fin de evitar consecuencias irreversibles.

Surgical management of a case of contractile peripapillary staphyloma with retinal detachment and macular hole.

A healthy 4-year-old male presented a fundus examination with a unilateral contractile peripapillary staphyloma surrounded by redundant retina and retinal pigment epithelium atrophy. Five years later, best-corrected visual acuity decreased to hand motion due to a retinal detachment with macular hole. One month after first vitrectomy, scleral buckle and intraocular gas, retina re-detached. Second surgery was performed with silicon oil tamponade and lensectomy without intraocular lens (IOL). Subretinal silicon oil was detected at the third month of follow-up when vitrectomy, inferior retinectomy, and laser photocoagulation of temporal border of staphyloma with silicon oil tamponade were performed. The retina remained attached and best-corrected visual acuity was 20/600 with intraocular silicon oil. A fourth surgery was performed for emulsified silicon oil extraction replaced with intraocular gas. At 6 months of follow-up, the retina re-detached again. This is a challenging vitreoretinal surgery in which re-detachments were due to retinal folds around the contractile staphyloma that raised macular hole. This is the first report of the combined presentation of contractile peripapillary staphyloma, retinal detachment and macular hole with a long-time follow-up period of years.

Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.

PURPOSE: To describe the clinical and molecular spectrum of Stargardt disease (STGD) in a cohort of Argentinean patients. METHODS: This retrospective study included 132 subjects comprising 95 probands clinically diagnosed with STGD and relatives from 16 of them. Targeted next-generation sequencing of the coding and splicing regions of ABCA4 and other phenocopying genes (ELOVL4, PROM1, and CNGB3) was performed in 97 STGD patients. RESULTS: We found two or more disease-causing variants in the ABCA4 gene in 69/95 (73%) probands, a single ABCA4 variant in 9/95 (9.5%) probands, and no ABCA4 variants in 17/95 (18%) probands. The final analysis identified 173 variants in ABCA4. Seventy-nine ABCA4 variants were unique, of which nine were novel. No significant findings were seen in the other evaluated genes. CONCLUSION: This study describes the phenotypic and genetic features of STGD1 in an Argentinean cohort. The mutations p.(Gly1961Glu) and p.(Arg1129Leu) were the most frequent, representing almost 20% of the mutated alleles. We also expanded the ABCA4 mutational spectrum with nine novel disease-causing variants, of which eight might be associated with South American natives.