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Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay
Khan AO, Al-Mesfer S, Al-Turkmani S, Bergmann C, Bolz HJ. Br J Ophthalmol. 2014 Jul 4. pii: bjophthalmol-2014-305122. doi: 10.1136/bjophthalmol-2014-305122. [Epub ahead of print]

La amaurosis congénita de Leber (ACL) es una distrofia retinal infantil grave que se acompaña de retraso del neurodesarrollo en aproximadamente el 20% de los casos. Se transmite típicamente de manera autosómica reseciva y es geneticamente heterogénea. En el presente estudio los autores investigan la la posibilidad de que el retraso del desarrollo psicomotor no es un hallazgo recurente de los casos definidos de ACL no sindrómica.