Table 2. Likelihood of presenting a specific clinical diagnosis for patients carrying p.(Cys759Phe) variant based on their genotype.

Diagnosis	Category A: p.(Cys759Phe) Homozygous		Category B: Compound Heterozygous p.(Cys759Phe) +USH2A missense		Category C: Compound Heterozygous p.(Cys759Phe) +USH2A truncating		Category A vs Category B	Category A vs Category C	Category B vs Category C
	N	%	N	%	N	%	likelihood of presenting Usher II diagnosis (p value, two-tailed Fisher´s test)
Usher syndrome type II	0	0	0	0	8	25.8	NA	0.043	0.043
ARRP/SRP	9	64.3	9	64.3	19	61.3
RP+hypoacusis	5	35.7	5	35.7	4	12.9
Total	14	100	14	100	31	100

Fifty-nine cases belonging to 52 families were included in the analysis (4 families having causative mutations in other RP genes and presenting only the Cys759Phe allele in USH2A were excluded; also the proband of the family RP-2424, since only molecular information was available).

To facilitate the comprehension of the genotype-phenotype correlation analysis, the patients were classified into three different categories: homozygous patients for p.(Cys759Phe) variant (Category A); compound heterozygous patients carrying additionally other USH2A variant (missense, Category B and truncating, Category C).

The likelihood of presenting an USH2 diagnosis for each category was calculated by two-tailed Fisher´s test.

Abbreviations: RP, Retinitis Pigmentosa; AR, autosomal recessive; S, sporadic; NA, non applicable.