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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.

Resumen Introduccion La enfermedad de Stargardt es la maculopatia mas frecuente en la edad infantil y adulta. Presenta un origen genetico por afectacion principalmente del gen ABCA4 con herencia autosomica recesiva. Se trata de un gen con caracteristicas especiales por su gran tamano y comportamiento, mostrando una elevada tasa de mutaciones. La aparicion, desarrollo y accesibilidad economica de las tecnicas de secuenciacion masiva permiten realizar el diagnostico genetico de la enfermedad de Stargardt. Pacientes y metodos Se presentan 2 casos clinicos diagnosticados geneticamente de enfermedad de Stargardt mediante la realizacion de un panel de secuenciacion masiva de 298 genes. Resultados Los pacientes presentaban un fenotipo de maculopatia de ojo de buey con ausencia de flecks y las siguientes mutaciones: c.G5882A:p.Gly1961Glu y c.C3056T:p.T1019M para el caso 1; c.G5882A:p.Gly1961Glu y c.287del:p.Asn96Thrfs*19 para el caso 2. Ambos pacientes comparten la mutacion c.G5882A:p.Gly1961Glu que explica su fenotipo similar caracteristico. Conclusiones La secuenciacion masiva es especialmente util en la enfermedad de Stargardt, pues el gen ABCA4 presenta un gran tamano y elevada heterogeneidad polimorfica, que se traduce en una amplia variabilidad clinica.

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.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.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.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.