Next generation sequencing in the diagnosis of Stargardt's disease. / La secuenciación masiva (NGS) como método diagnóstico en la enfermedad de Stargardt.

INTRODUCTION: Stargardt's disease is the most frequent form of inherited macular dystrophy in children and adults. It is a genetic eye disorder caused by mutations in ABCA4 gene with an autosomal recessive inheritance. ABCA4 is a very polymorphic and large gene containing 50 exons. The development of next generation sequencing (NGS) can be used for the genetic diagnosis of this disease. PATIENTS AND METHODS: A report is presented on two patients with a clinical diagnosis of Stargardt's disease whose genetic confirmation was performed by a NGS panel of 298 genes. RESULTS: Clinically, the patients showed bull's eye maculopathy and absence of flecks, and genetically they shared the Gly1961Glu mutation that could explain their common phenotype, together with c.C3056T:p.T1019M for case 1, and c.287del:p.Asn96Thrfs*19 for case 2. CONCLUSIONS: NGS is particularly useful in the diagnosis of Stargardt's disease as ABCA4 is a large gene with a high allelic heterogeneity that causes a wide range of clinical manifestations.

[Supposed nylon allergy after cataract surgery]. / Supuesta alergia al nylon tras cirugía de la catarata.

CASE REPORT: We present the case of a patient operated on for extracapsular cataract extraction of both eyes. Three weeks after the first operation (right eye), the patient presented a local inflammatory reaction at the incision site which was characterized by the existence of whitish exudates of different sizes surrounding the nylon suture. At one week of the second operation, the patient presented the same alteration (left eye), although it was observed sooner and had a greater intensity. The allergy skin tests for nylon and other substances were negative, however the local inflammatory reaction disappeared when the nylon suture was removed. DISCUSSION: This type of reaction, which we have observed in several other patients, has been previously described by others authors, although no clearly established cause has been demonstrated. Both toxicity and allergy to nylon have been proposed as the underlying mechanisms. We consider that a type IV hypersensitivity reaction to nylon may be the underlying mechanism of these reactions although toxicity cannot be ruled out.