Retinopatía del prematuro con presentación atípica / Retinopathy of prematurity with atypical presentation

La retinopatía de la prematuridad es una enfermedad dinámica vasoproliferativa de la retina inmadura postnatal que afecta a los bebés prematuros. Cuando aparecen signos de atipicidad en su diagnóstico o evolución deben descartarse otras entidades vasculares de la retina, que generalmente tienen un trasfondo genético y semejan o coexisten con dicha entidad. Se presenta un caso con características de Retinopatía del prematuro y algunos signos de atipicidad. Se describe su manejo y evolución, así como una breve descripción de las entidades que conforman el diagnóstico diferencial(AU)

Retinopathy of prematurity is a dynamic vasoproliferative disease of the immature postnatal retina that affects premature babies. When signs of atypicality appear in its diagnosis or evolution, other vascular entities of the retina must be ruled out, which generally have a genetic background and resemble or coexist with said entity. We present a case with characteristics of Retinopathy of prematurity and some signs of atypicality. Its management and evolution are described, as well as a brief description of the entities that make up the differential diagnosis(AU)

Norrie disease caused by a c. 361C>T missense variant of the NDP gene in a pedigree / 中华医学遗传学杂志

Objective@#To explore the genetic etiology of a pedigree affected with Norrie disease.@*Methods@#Four individuals from the core family of the proband were subjected to whole exome sequencing in order to identify the pathological variant. Sanger sequencing was used to verify the finding among 7 additional members from the pedigree.@*Results@#The proband and other 3 male patients have all carried a hemizygote c. 361C>T (p.Arg121Trp) missense variant of the NDP gene, for which his mother, grandmother and two younger female cousins were heterozygous carriers. The same variant was not detected among unaffected males. Above results conformed to a X-linked recessive pattern of inheritance.@*Conclusion@#The missense variant c. 361C>T of the NDP gene probably underlies the Norrie disease in this pedigree.

NDP gene variants analysis and clinical features of Norrie disease and familial exudative vitreoretinopathy / 中华实验眼科杂志

Objective To analyze the clinical features and NDP gene variants in patients with Norrie disease and familial exudative vitreoretinopathy,(FEVR).Methods Sixteen patients who were diagnosed as FEVR and 3 patients who were diagnosed as Norrie disease underwent detailed ocular examinations in Beijing Tongren Hospital from 2012 to 2018.Peripheral venous blood was drawn from patients and their family members for extration of genomic DNA.All exons of NDP gene were analyzed by direct sequencing of PCR-amplified DNA fragments.This study was approved by Joint Committee on Clinical Investigation of Beijing Tongren Hospital,and patients information and venous blood collection were done after the informed consents were obtained.Results Four unreported NDP gene mutations were detected in one FEVR patient and 3 Norrie disease patients:c.217T＞C (p.S73P),c.2T＞C (p.M1),c.194G＞T (p.C65F) and c.384C＞G (p.C128W).One patient who was clinically diagnosed as FEVR had no symptom but the avascular zone on the bilateral peripheral retina.The three Norrie disease patients who were clinically diagnosed as Norrie disease all appearred to have bilateral congenital blindness,mass in the vitreous and retinal detachment,and one in the three Norrie disease patient had evident mental retardation.Conclusions The results of this paper extend NDP gene mutation spectrum,and NDP gene is further confirmed to be the casuse of Norrie disease.

Presentación de un paciente con enfermedad de Norrie / Presentation of a Patient with Norrie Disease

La enfermedad de Norrie es un raro trastorno genético ligado al cromosoma X que afecta principalmente a los ojos y casi siempre conduce a la ceguera. Además de los síntomas oculares congénitos, algunos pacientes sufren una pérdida progresiva de la audición sobre todo a partir de su segunda década de vida, mientras que otros afectados pueden tener problemas mentales. Los pacientes con la enfermedad de Norrie pueden desarrollar cataratas y leucocoria, junto con otras afecciones de desarrollo en el ojo, como la contracción del globo ocular y el desgaste del iris. Se presentó un niño de cuatro años con ceguera congénita y antecedentes familiares de cuatro tíos y primos de sexo masculino, ciegos desde el nacimiento; su mamá preocupada solicitó asesoramiento genético ante un nuevo embarazo a la cual le brindó toda la información necesaria y se le realizó estudio molecular de sexo.

Norrie disease is a rare genetic disorder that is associated with chromosome X, affecting the eyes and often causes blindness. Besides congenital ocular symptoms, some patients suffer from progressive hearing loss, mainly from its second decade of life, while others may be affected by mental problems. The patients with this diagnosis may develop cataracts and leukocoria, together with other development eye disorders, such as shrinking of the eyeball and the iris wear. This paper presented a four- year- old boy with congenital blindness and family history of four uncles and male cousins, blind from birth, his mother worried requested genetic consultation, and she needed information to take into consideration for her next pregnancy. The informed everything about the disease and molecular study was performed.