Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing

Table 1

Patients cohort.

Clinical diagnosis	Number of cases	Healthy relatives	Familiar Cases (number of families)	Presumed inheritance in family				Sex		Age at genetic counseling
				Sporadic	AD	AR	XL	M	F	Range	Median
BMD	4		2 (1)		4			1	3	12–65	58
LCA	5	5		1		4		2	3	5–85	9
STGD	14		6 (3)			14		5	9	8–59	28
RP	45	12	9 (4)	14	6	20	5	25	20	2–73	47.5
USH	3					3		2	1	33–53	51
nd IRD	17	4	6 (2)	6	6	5		13	4	2–62	35
Total	88	21	23 (10)	21	16	46	5	48	40	2–85	37

BMD: Best Macular Dystrophy; LCA: Leber Congenital Amaurosis; STGD: Stargardt disease; RP: Retinitis Pigmentosa; USH: Usher syndrome; nd IRD: inherited retinal degeneration not otherwise specified without precisely defined diagnosis; AD: autosomal dominant; AR: autosomal recessive; XL: X-linked; M: male; F: female.