Radial fundus autofluorescence in the periphery in patients with X-linked retinitis pigmentosa

Figures & data

Figure 1 Radial FAF at the posterior pole.

Notes: Cases 1, 3, 4, and 7 show marked radial patterns in both eyes, while the radial FAF of cases 2 and 5 exhibits low contrast in the right eye only. The radial FAF extends only to the superior temporal area in the right eye of case 6. The asterisks indicate the images without radial FAF. The images within the yellow box represent those of the study participant with a radial pattern limited to the periphery.
Abbreviation: FAF, fundus autofluorescence.

Figure 2 Peripheral radial FAF.

Notes: Except in case 5, the radial FAF is depicted better in the periphery than at the posterior pole. The images within the yellow box represent those of the study participant with a radial pattern limited to the periphery.
Abbreviation: FAF, fundus autofluorescence.

Figure 3 Visual fields of patients with radial FAF.

Notes: All eyes show visual field defects to various extents. The V4/e isopter defect of the eye in case 1 shows marked wedge-shaped constriction. Cases 1, 2, 3, and 4 were assessed with Goldmann perimetry. Case 6 was assessed using the Humphrey Field Analyzer (30-2 protocol). Visual field tests were not performed for cases 5 and 7.
Abbreviation: FAF, fundus autofluorescence.

Table 1 Characteristics of the cases with radial pattern fundus autofluorescence

Case	Age	Sex	Genotype	Symptom	Visual acuity R/L	Visual field R/L	ERG (ISCEV 2008) R/L
1	38	Female	RPGR exon15 c.1860_1861del (p.620_621del)	Visual field defect in the right eye and night blindness since the third decade	1.2/1.2	Wedge-shaped restriction/wedge-shaped and concentric restriction	20%–30% amplitude in both eyes compared with normal
2	40	Female	RPGR exon8 c.922G > C (p.A308P)	Amblyopia in the left eye and visual field defect in the left eye since 30 years of age	0.9/0.15	Wedge-shaped restriction and ring scotoma/concentric restriction	50%–60% amplitude/nonrecordable
3	11	Female	RPGR exon8 c.922G > C (p.A308P)	Amblyopia in the left eye and photophobia since childhood	1.2/0.04	Peripheral island scotoma/ring scotoma	60%–80% amplitude/30%–60% amplitude
4	22	Female	Undetermined (X-linked)	Recent night blindness	1.2/1.2	Peripheral island scotoma/wedge-shaped restriction	50% amplitude in both eyes
5	42	Female	RPGR exon8 c.894_895del (p.298_299del)	None	NA	NA	NA
6	43	Female	Not tested (X-linked)	Night blindness since childhood	0.7/0.6	Concentric restriction/concentric restriction measured with Humphrey Field Analyzer	NA
7	11	Female	Not tested (X-linked)	Amblyopia in the left eye	1.0/0.5	NA	NA
Extra	66	Female	RPGR exon10 c.1087_1088insGTAG (p.V363fs)	None	NA	NA	NA

Abbreviations: ERG, electroretinogram; ISCEV, International Society for Clinical Electrophysiology of Vision; NA, not applicable; R/L, right/left.

Figure 4 Color fundus photograph of patients with radial FAF.

Notes: Bone spicule pigmentation is seen only in cases 1 and 4. No eyes show the tapetal-like reflex.
Abbreviation: FAF, fundus autofluorescence.

Figure 5 Family history of patients with radial FAF.

Notes: All individuals showing any symptom or fundus appearance are represented by closed marks. The extra case represents the individual with a radial pattern limited to the periphery.
Abbreviation: FAF, fundus autofluorescence.