. 2018 May 24;136(7):761–769. doi: 10.1001/jamaophthalmol.2018.1621

Table 1. Genetic Findings and Clinical Features of 9 Patients With Retinitis Pigmentosa (RP) With Mutations in CNGB1.

Patient No./Sex/Age, y	CNGB1 Mutation Sequence	RP Retinal Phenotype									Olfactory Phenotype/Function
		Age at Diagnosis, y	BCVA		Approximate Preserved Central Visual Field	Full-Field ERG		Refraction (Sphere/Cylinder)^a		Additional Comments	Test Result Score	Classification in Relation to Healthy Controls^b
		Age at Diagnosis, y	OD	OS	Approximate Preserved Central Visual Field	Scotopic Responses	Photopic Responses	OD	OS	Additional Comments	Test Result Score	Classification in Relation to Healthy Controls^b
1/M/43	c.[2210G>A(;)2763C>G]	39	20/20	20/20	30°	Rod-specific undetectable, small mixed responses	Approximately 70% below lower normal limits	+0.25/−0.75	−0.75/−0.75	NA	TDI 27.5	Hyposmia
2/M/49	c.[2957A>T(;)3044_3050del]	42	20/40	20/32	20°	Undetectable	Undetectable	−4.0 /−0.75	−3.75/−0.5	NA	TDI 31.5	Normosmia (borderline low)
3/F/34	c.[2492+1G>A];[(2492+1G>A)]	30	20/20	20/20	25°	Undetectable	Small delayed b wave	−1.0/−0.5	−0.75/−0.75	NA	TDI 14.5	Anosmia
4/M/49^c	c.[2284C>T];[2492+1G>A]	49	20/20	20/20	NP	Undetectable	Small delayed b wave	−3.25/−1.5	−2.75/−0.75	NA	TDI 25.5	Hyposmia
5/F/52^c	c.[2284C>T];[2492+1G>A]	30	20/25	20/20	10°	Undetectable	Undetectable	+1.25/−0.25	+1.0/−0.50	NA	TDI 26.25	Hyposmia
6/M/68	c.[2284C>T];[(2284C>T)]	45	20/40	20/32	NP	NP	NP	+1.0/−1.5	+0.5/−1.5	Right eye pseudophakic	TDI 16.5	Anosmia
7/M/60	c.[413-1G>A(;)3139_3142dup]	25	LP	LP	NP	Undetectable	Undetectable	−0.50/0	−0.5/−0.5	Able to read until age 55 y	TDI 20.5	Hyposmia
8/F/67	c.[1312C>T];[(1312C>T)]	8	LP	NLP^d	2°	Undetectable	Undetectable	Approximately −10.0^e	NP	Right eye pseudophakic, left eye phthisis bulbi,^d both eyes glaucoma, high myopia	TDI 30.25	Hyposmia (borderline high)
9/M/79	c.[2542_2543insA];[(2542_2543insA)]	Childhood	20/400	20/25	10°	Undetectable	Undetectable	−0.5/0	−0.75/−1.5	Both eyes pseudophakic	T&T olfactometer 5.8^f	Anosmia

Abbreviations: BCVA, best-corrected visual acuity; ERG, electroretinography; LP, light perception; NA, not applicable; NLP, no light perception; NP, not performed; TDI, threshold for butanol, discrimination, and identification of odorants, assessed using the Sniffin’ Sticks (Burghart Messtechnik) test (1 to 16.5 indicates functional anosmia, >16.5 to 30.5 indicates hyposmia, and >30.5 indicates normosmia).

^{^a}

For pseudophakic patients, refraction before cataract surgery is given.

^{^b}

Age range, 16 to 35 years.

^{^c}

Patients 4 and 5 are brother and sister.

^{^d}

Phthisis bulbi with retinal detachment after glaucoma surgery.

^{^e}

Cataract surgery was performed before the patient's first visit and therefore, exact refraction before surgery is not known.

^{^f}

Testing with the T&T olfactometer (Daiichi Yakuhin Sangyo) produces a combined test score from threshold testing and odor identification for 5 odors each.