Skip to main content

Table 1 Clinical characteristics of ten South Indian patients involved in this study

From: Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India

Patient ID Genetic findings Revised Diagnosis Age (years) Gender Visual acuity (Bilateral) Refraction (Bilateral) Clinical Presentation ERG Fundus SD-OCT Autofluorescence Other Systemic problems
Onset Diagnosis Current Nystagmus Oculodigital Sign Others
AS01 RPE65 LCA 1 1 8 F 6/24 LH Horizontal jerky Absent Large angle exotropia, Night blindness Non-recordable MAA, ILM Wrinkling NRA, Well preserved central IS/OS junction with peripheral disruption NA  
AS02 LCA5 LCA 0.67 1 7 M 6/24 MH Horizontal jerky Present Exotropia, Night blindness, Photophobia Non-recordable MAA, Pigmentary retinopathy NRA, Well preserved central outer retinal layers, Loss of IS/OS peripheral to macula Increased auto-fluorescence at macula  
AS03 LCA5 LCA 1 1 11 F LP+ MH Roving eye movement Present Photophobia, Posterior subcapsular cataract Non-recordable Thread like arteries, Marbled fundus, Macular atrophy Thick distorted retina, Centrally preserved outer retinal layers NA  
AS04 CRX LCA 0.75 0.75 6 M LP+ MH Roving eye movement Present Large angle exotropia Non-recordable MAA, GDA Thin distorted retina, Complete loss of outer retinal layers Slightly reduced  
AS05 PRPH2 LCA 1 2 8 F 6/60 LH Multiplanar Present Variable angle exotropia Non-recordable Yellow vitelliform lesion at fovea with central hyper pigmented spot NRA, Hyper reflectivity of the vitelliform substance from the subretinal space Ring of increased auto-fluorescence at macula and speck of decreased auto-fluorescence at center  
AS06 CEP290 LCA 0.5 0.5 7 F LP+ HH Roving eye movement Present Cortical cataract Non-recordable Disc pallor, Thread like arteries, Marbled fundus Thin distorted retina NA Head titubation, Developmental delay, Kidney failure
AS07 ALMS1 LCA 1 1 6 M LP+ HH Horizontal pendular Absent Photophobia Non-recordable Thread like arteries, GDA, ILM wrinkling Thick distorted retina, Central preservation of outer retinal layer, Loss of IS/OS peripheral to macula NA  
AS08 IFT80 LCA 1 2 11 F HM MH Multiplanar Present Photophobia Non-recordable Disc pallor, Thread like vessels, Marled fundus, Macular coloboma Atrophied neurosensory retina, Complete loss of outer retinal layers, Crater like macular depression Decreased auto-fluorescence at macula  
AS09 RP1 Early-onset retinitis pigmentosa 1.75 2 13 F HM LH Multiplanar Present Posterior subcapsular cataract Non-recordable Disc pallor, MAA, Bulls eye macula, ILM wrinkling Thick distorted retina Decreased auto-fluorescence at macula and specks of increased auto-fluorescence at center  
AS10 No variant of interest LCA 0.5 2 10 M HM M Vertical jerky Absent Exotropia, Photophobia Non-recordable Disc pallor, Thread like arteries, GDA, Pseudohole Thick distorted retina NA Dry skin, Hyperpigmented Knuckles
  1. M = male; F = female; LP = light perception; HM = hand motion, hypermetropia classified based on refractive error; LH = low hypermetropia (−0.25 D to + 2.75 D); MH = moderate hypermetropia (+3.00 D to +5.00 D); HH = high hypermetropia (> + 5.00 D); M = myopia; MAA = mild arteriolar attenuation; GDA = greyish desaturated appearance; ILM = inner limiting membrane; NRA = normal retinal architecture; IS/OS = inner segment/outer segment; NA = not available