Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees

Table 1 Clinical features of attainable patients

Family member ID	RP causative gene	Age (year)/sex	Onset age (year)	Night blindness	Cataract		BCVA (logMAR)		Fundus appearance								ERG
					Cataract		BCVA (logMAR)		O.D.				O.S.				ERG
					O.D.	O.S.	O.D.	O.S.	MD	OD	AA	PD	MD	OD	AA	PD	O.D.	O.S.
A-V:2^a	–	–	10	Yes	–	–	LP	LP	–	–	–	–	–	–	–	–	–	–
A-VI:2	C8ORF37	25/F	8	Yes	No	No	LP	LP	Yes	Waxy	Yes	Yes	Yes	Waxy	Yes	Yes	D	D
A-VI:3	OFD1	24/M	2	Yes	No	No	LP	LP	Yes	Waxy	Yes	Yes	Yes	Waxy	Yes	Yes	D	D
B-II:4	RP1	80/F	50	Yes	Severe	Severe	NLP	LP	–	–	–	–	Yes	Waxy	Yes	Yes	–	D
B-III:3	RP1	59/M	30	Yes	IOL	IOL	0.6	0.25	Yes	Waxy	Yes	Yes	Yes	Waxy	Yes	Yes	D	D
B-III:5	RP1	54/F	35	Yes	Mild	Mild	0.3	0.3	Yes	Waxy	Yes	Yes	Yes	Waxy	Yes	Yes	D	D
B-IV:1	TULP1	27/M	EC	Yes	Moderate	Moderate	0.15	0.2	Yes	Waxy	Yes	Yes	Yes	Waxy	Yes	Yes	D	D
B-IV:2	TULP1	24/F	EC	Yes	Moderate	Moderate	0.3	0.3	Yes	Waxy	Yes	Yes	Yes	Waxy	Yes	Yes	D	D
B-IV:4	RP1	31/F	–	Yes	No	No	0.5	0.8	No	No	No	Yes	No	No	No	Yes	R	R

F female, M male, EC early childhood, BCVA best corrected visual acuity, logMAR logarithm of the minimum angle of resolution, O.D. right eye, O.S. left eye, IOL intraocular lens, LP light perception, NLP non-light perception, MD macular degeneration, OD optic disk, AA artery attenuation, PD pigment deposits, ERG electroretinography, D diminished, R reduced
^aThis patient is deceased. His clinical features are obtained based on his medical records

ISSN: 1479-5876