Identification of AIPL1 gene variants in two Chinese families with Cone-rod dystrophy / 中华医学遗传学杂志

OBJECTIVE@#To detect pathogenic gene variants in two Chinese families with cone-rod dystrophy(CORD).@*METHODS@#After the informed consent and comprehensive ophthalmic examinations for the patients, 3 mL peripheral blood was taken from the patients' blood vessel and DNA was extracted. The DNA was sequenced by whole-exome sequencing technology and variants were analyzed.@*RESULTS@#Two novel compound heterozygous AIPL1 variants were detected in two patients, which were c.923T to C (p.L308P) and c.421C to T (p.Q141X) variants in Family 1, c.572T to C (p.L191P) and c.421C to T (p.Q141X) in Family 2.@*CONCLUSION@#The results supported that AIPL1 gene variants are the main cause of the two CORD families. Whole-exome sequencing technology is a useful tool in the clinical differentiated diagnosis and genetic counseling for CORD patients.

Distrofia Retiniana Familiar. Reporte de dos casos / Retinal Dystrophy Family. Report of two cases

La distrofia de conos es un grupo de enfermedades retinianas hereditarias en forma monogenética que siguen los patrones de herencia mendeliana, se caracterizan por baja de agudeza visual por afectación macular, con poca o ninguna repercución en retina periférica y deben diferenciarse de otras patologías como las degenerativas o las tóxicas. Es muy poco frecuente encontrar esta afectación en la consulta, sobre todo en dos miembros de una familia de edades 11 y 13 años de edad respectivamente, que se presentan con baja de agudeza visual con largo tiempo de evolución, sin antecedentes personales ni patológicos de importancia, es por eso que vemos por conveniente la presentación de estos casos clínicos. Se realizó una revisión oftalmológica completa con los exámenes disponibles en Cochabamba entre los cuales no se incluyo Electroretinograma. De acuerdo a las características del cuadro clínico baja de visión, heme-ralopía y fotofobia, y los exámenes realizados, retinografía, campo visual, test de color de FM 100, los cuales se encontraron alterados y, se llega presunción diagnóstica de una presencia de distrofia de conos dominante,con mal pronóstico visual, al no existir actualmente un tratamiento efectivo para evitar la progresión de la enfermedad, y en éstos casos se recomienda ayudas visuales con anteojos y lupas.

The cone dystrophy is a group of hereditary retinal diseases in a single gene that follow Mendelian inheritance patterns are characterized by low visual acuity macula, with little or no repercussion in the peripheral retina and should be distinguished from other pathologies such as degenerative or toxic. It is very rare to find this involvement in the consultation, especially two family members ages 11 and 13 years respectively, presented with low visual acuity with long evolution, no personal or important pathological , that is why we see presenting appropriate clinical cases. We performed a complete ophthalmologic examination with in Cochabamba, including Elec-troretinogram was not included. According to the characteristics of clinical low vision, night blindness and photophobia, and previous tests, fundus, visual field, color test FM 100, which were found altered and will reach a presumptive diagnosis of Duchenne presence of dominant cones, with poor visual prognosis, as there currently an effective treatment to prevent disease progression, and in these cases it is recommended visual aids and magnifying glasses.