Clinical study on Leber congenital amaurosis

Abstract

Objectives To observe the clinical characteristics of Leber congenital amaurosis (LCA)and analyze the features to differentiate LCA from other similar disorders.Methods Prospective study of 15LCA patients which include 10 males and 5 females,aged from 2 to 31 years with the mean age 13.6 years.Medical history,family history,perinatal conditions,as well as complete ocular evaluations were well documented.Among the subjects,12 patients underwent optometry check,10 patients underwent ERG and 8 patients had OCT testing.Results All of the patients had nystagmus and sluggish pupillary reflex.The visual acuity distributed from light perception to 0.1.Fivepatients (33.3%) were presented with photophobia,while 7 patients (46.7%) had nyctalopia.Among 12 cases underwent refraction examination,6 patients (50% ) had spherical equivalent of≥ + 5D;1 patient(8.3 % )had spherical equivalent of≥+5D;2patients (16.7%) had bilateral mild to moderate hyperopia;1 patient (8.3%) had one emmertropic eye and one mild myopic eye;2 patients (16.7%) had moderate to high myopia.Eight patients (53.3%) had enophthalmus,4 patients (26.7%) had oculo-digital sign.All of the 10 patients underwent ERG showed extinguished waveform.Under OCT assesement,7 patients had decreased fovea thickness;1 patient had increased fovea thickness,complicated by epiretinal membrane;mild abnormality of microstrueture of the retina with diminished and disrupted IS/OS hyperreflectivity were found in 2 cases;while more pronounced disarrangement of the retinal layers were found in 6 cases,inner layers were better reserved in all patients.Conclusions Severe visual impairment or blindness,nystagmus,pupillary reflex,extinguished ERG and hyperopia are main clinical characteristics of LCA. Key words: Optic atrophy; hereditary; Leber/diagnosis; Electroretinography/utilization; Tomography; optical coherence/utilization