Clinical Screening and Characteristics Analysis on Leber Congenital Amaurosis
|School||Dalian Medical University|
|Keywords||Clinical screen Hereditary Leber/diagnosis Clinical characteristics|
Objectives:This study sought to screen the congenital blind eyes in dalian,todiagnose Leber congenital amaurosis (LCA)cases and analyze their clinicalcharacteristics.Methods:In this prospective study, we did relevant clinical examination for89congenital blind eyes in Dalian city.They are younger than40years old.Medicalhistory,family history,perinatal conditions, as well as complete ocular evaluations werewell documented.After the screening,we identified8suspected patients.Among thesubjects,5patients underwent digital fundus photography,6patients underwent ERG,2patients underwent corneal topography and3patients had OCT testing.Results:5patients were diagnosed LCA which include3males and2females,aged from6to29with the mean age17.3years.Every one had nystagmus andsluggish pupillary reflex,and none had cataract.3of them (3/5)had enophthalmos,2patients (2/5) had oculo-digital sign,2patients (2/5) had photophobia,3of them (3/5)hadnight blindness.Patients with a range of vision from light perception to0.2,all of themunderwent optometry check.2patients (2/5) had spherical equivalent>+5D;1patients(1/5) had moderate to high myopia, spherical equivalent>+2.5D;1patients (1/5) hadone emmertropic eye and one mild farsightedness eye;1patients (1/5) had moderate tohigh myopia.All of the5patients (5/5) underwent ERG showed extinguished waveform.Conclusion:1. The first six months of the severe vision loss,nystagmus, sluggishpupillary reflex and non-recordable ERG or ERG serious reduce are the clinicalcharacteristics of LCA,and also the LCA diagnostic criteria.2.Oculo-digital sign, photophobia,hyperopia, and Keratoconus are often also theclinical features of the LCA patients. 3.Phenotype diversity, tip pathogenesis mechanism has a variety of, eye performancevaried.4.Domestic clinical doctors, inadequate understanding of LCA and misdiagnosis andmissed diagnosis rate very high, many patients have already missed the best treatmentage.