Table 2

Clinical features of patients with type 2 Stickler syndrome

Pedigree number		Age	Ocular phenotype		Articular phenotype		Aural phenotype		Oro-facial phenotype
Pedigree number		Age	Myopia*	RD†	Joint hypermobility	Radiological abnormality	Conductive loss‡	Sensorineural loss‡	Midface hypoplasia	Cleft§
0: absent; +: mild; ++: moderate; +++: severe.
*0: not myopic; +: mild (<−5); ++: moderate (−5 to −10); +++: high (>−10); †Retinal detachment (RD): 0: no RD; +: RD in one eye; ++: RD in both eyes; cryo/laser: prophylactic cryo or laser retinopexy; ‡0: none; +: mild 30 dB; ++ : moderate 30–60 dB; +++: severe >60 dB; §0: none; +: bifid uvula; ++: high arched; +++: cleft palate.
All patients exhibited the “beaded” vitreous phenotype and had confirmed mutations in the α1 chain of type XI collagen (COL11A1).
JH1	IV:3	21	+	+	0				0	0
JH1	IV:2	10	+	0	0		0	0		0
JH1	III:5	49	+	+	0				0	0
JH1	III:3	34	+	Cryo	0					+++
JH1	III:2	42	++	++	0				0	+++
JH1	II:3	84	+	Laser	0				0	0
JH1	IV:4	18	+	+	0		0	0	+	+++
MS1	III:4	32	+++	++	+		++	++		+++
MS1	III:5	34	+++	+	0		0	+	+	0
MS1	III:2	28	++	Cryo	+		0	+	+	+++
MS1	III:1	31	+++	++	0		0	0	+	0
MS1	II:6	59	+++	0	0		0	+	+	+
MS1	II:2	55	+	+	0		0	++	0	0
MS40	III:3	63	++	0	0	+	0	++	0	0
MS40	III:2	68	+++	+	++	+	0	++	+	0
MS40	IV:12	43	0	0	0	0/+	0	+	+	0
MS40	IV:11	47	0	0	+		0	++	+	0
MS40	III:4	57	+	++	0	+			+	++
MS40	II:1	65	+	++	0	+	0	++	0	0
MS40	IV:2	36	+	0	++	0	0	+	+	0
MS40	IV:6	34	0	0	0	0	0	0	+	0
MS40	IV:8	32	+	0	0	+	0	+	0	0
MS42	I:2	73	+	+	0	+	0	+	+	0
MS42	II:3	41	+	++	0		0	+	++	0
MS42	III:2	14	+	0	0	0	0	0	0	0
MS42	III:4	12	++	0	0		0	+	+	++
MS42	II:2	44	+	Laser	0	+	0	+	+	0
MS67	I:1	19	+++	0	+		+	++	+
MS71	I:1	47	+	0	++		0	+	+	++
MS71	II:1	17	++	0	++		+	++	+	+++
MS71	II:2	11	0	0	++		+	+	+	+++

Clinical features of type 2 Stickler syndrome

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