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

Table 2

Diagnostic yields for the clinical subtypes of this study.

Clinical; diagnosis	Cases; (n)	Genetic; diagnosis (n)	Unsolved; cases (n)	Clinical reassessment; (final diagnosis)	Diagnostic; yield (%)
BMD	4	4	—		100
LCA	5	4	1		80
STGD	14	11	3		78.5
RP	45	27	18	2 (USH)	60.0
USH	3	3	—		100
nd IRD	17	3	14	3 (ACHM, LCA, STGD)	17.6
Total	88	52	36	5	59.1

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; ACHM: Achromatopsia.