Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

Table 3 Clinical features of Spanish families with RP1 mutations

Mutation	Family members	Age (years)	Onset of NB	Onset ↓VFC	Onset ↓VA	Current VF	Current VA	Current ERG	Funduscopy
K722fsX737	I-1	85	60	65	None	Not done	Not done	Not done	Typical RP
	II-2	59	50	49	None	10°central	0.6 BE	Not detectable	Typical RP
	II-3	58	43	46	50	10°central	< < 0.1 BE	Not detectable	Typical RP + CME
	II-4	56	37	54	None	10°central	0.5 BE	Not detectable	Typical RP
Q686X	I-1	83	69	74	69	10°central	0.2 BE	R/M nd. & ↓↓	Typical RP
	II-1	60	None	None	None	Normal	1.0 BE	Normal	Normal
	II-6	54	30	45	25	10°central	0.3 BE	R/M & ↓↓ C N	Typical RP
	III-6	29	None	None	None	Normal	1.0 BE	Normal	Normal
	III-7	26	None	None	None	Normal	1.0 BE	Normal	Normal
K705fsX712	II-1	73	None	None	None	PC up VF	0.7/0.6	R nd & M/C↓	Normal
	III-1	46	Unknown	Unknown	Unknown	PC	Not done	Not done	Typical RP
	III-3	42	30	35	None	20°R/10°L	0.8/1	Not detectable	Typical RP
	III-4	40	None	None	None	Normal	1.0 BE	Normal	Normal
	III-5	39	None	None	None	Normal	1.0 BE	Normal	Normal
	III-6	49	Unknown	Unknown	Unknown	PC	Not done	Not done	Typical RP
	III-11	41	None	None	None	Normal	1.0 BE	Normal	Normal
	III-12	38	Unknown	Unknown	Unknown	PC	Not done	Not done	Typical RP
	III-14	39	None	None	None	Normal	1.0 BE	Normal	Normal
	IV-1	11	None	None	None	Normal	1.0 BE	Normal	Normal

BE : Both Eyes; ERG : Electroretinogram; CME : Cystoid Macular edema; NB : Night blindness; PC upVF : Peripheral constriction of upper visual field; R nd & M/C↓ : Not detectable rod responses, impaired amplitude and delayed response of mixed and cones; R/M ↓↓ & C N : Impaired amplitude and delayed response of rods and mixed, normal cone response; R/M nd. & C↓↓ : Not detectable rod and mixed responses, impaired amplitude and delayed response of cones; Typical RP : Pale discs, attenuated vessels, bone-spicule intraretinal pigmentation; VA : Visual acuity; VF : Visual field; VFC : Visual field constriction.

ISSN: 1471-2350