Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy

Table 1 Details of the CHED cases recruited to this study

CHED Case ID familial (F) and sporadic (N)	Onset of disease	Age	Sex	Visual acuity		Corneal thickness (µm) OD/OS	Corneal opacity	Surgical interventions
CHED Case ID familial (F) and sporadic (N)	Onset of disease	Age	Sex	OD	OS	Corneal thickness (µm) OD/OS	Corneal opacity	Surgical interventions
F1a	Early adolescence	14	Female	CF 1 m	CF/CF	989/974	Severe	DSAEK + MMC
F1b	Middle childhood	10	Female	20/400	20/600	961/742	Moderate	DSAEK
F1c	Middle childhood	7	Male	20/600	20/600	986/940	Severe	DSAEK
F2a	Middle childhood	14	Female	20/800	20/800	1310/1280	Severe	DSAEK + MMC
F2b	Early adolescence	9	Male	20/160	20/200	1200/1210	Mild	DSAEK
N1	Early adolescence	13	Female	20/160	CF/CF	1040/1110	Moderate/Severe	DSAEK
N2	Early adolescence	7	Female	20/800	20/800	967/995	Severe	DSAEK
N3	Middle childhood	12	Male	20/160	20/160	1080/1100	Moderate	DSAEK
N4	Early adolescence	15	Female	CF/CF	CF/CF	1200/1220	Severe	DSAEK
N5	Middle childhood	8	Male	20/400	20/500	781/776	Moderate	DSAEK

OD Oculus Dexter (Right eye); OS Oculus sinister (Left eye); CF Counting fingers; DSAEK Descemet’s stripping automated endothelial keratoplasty; MMC Mytomycin C

ISSN: 1750-1172