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

Viswarubhiny, Sriee; Anjanamurthy, Rupa; Vanniarajan, Ayyasamy; Bharanidharan, Devarajan; Perumalsamy, Vijayalakshmi; Sundaresan, Periasamy

doi:10.1186/s40662-021-00243-5

Eye and Vision

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
Patient ID	Genetic findings	Revised Diagnosis	Onset	Diagnosis	Current	Gender	Visual acuity (Bilateral)	Refraction (Bilateral)	Nystagmus	Oculodigital Sign	Others	ERG	Fundus	SD-OCT	Autofluorescence	Other Systemic problems
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

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

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ISSN: 2326-0254

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