Table 1.

Clinical data of RP1 patients.

PATIENT	GENDER	ACTUAL AGE	AGE AT TIME OF DIAGNOSIS	MEDICAL AND OPHTHALMOLOGICAL HISTORY	REVELANT FAMILY HISTORY	SYMPTOMS AT TIME OF DIAGNOSIS	BCVA (RE; LE)	FUNDUS EXAMINATION
1	F	31	10	OS cataract surgery Intermittent exotropia Recent nystagmus	None	Nyctalopia and reduced visual field	20/200; <20/400	NBV, BS in the periphery and perifoveal pigmentation with a sketch of atrophic macular ring
2	M	28	8	Myopia+	Progressive myopia	Nyctalopia and reduced visual field	5/400; 5/400	NBV, little RPE changes in the periphery and perifoveal pigmentation with macular atrophy
3	M	63	16	Bilateral cataract surgery	Progressive myopia and RP	Nyctalopia and reduced visual field	LP; LP	NBV, BS in the periphery and perifoveal pigmentation with atrophic macular ring
4	F	24	7	Myopia+	None	Nyctalopia and reduced visual field	CF; 20/150	NBV, widespread RPE changes with BS in the periphery, perifoveal pigmentation with macular atrophy, pale optic discs
5	M	14	2	High myopia+	None	Nyctalopia, reduced visual acuity and visual field	20/70; 20/20	NBV, little RPE changes in the periphery, little perifoveal pigmentation without atrophy, well coloured optic nerve heads
6	M	30	6	Irritable Bowel Syndrome	None	Reduced visual acuity	HM; LP	NBV, BS in the periphery and perifoveal pigmentation with atrophic macular ring
7	F	31	11	Glaucoma	Werding-Hoffmann Syndrome	Reduced visual acuity	<20/400; <20/400	NBV, BS in the periphery and perifoveal pigmentation with atrophic macular ring

⁺3/7 patients had myopia. The patient with high myopia had good BCVA.

Light perception (LP); count fingers (CF); hand movement (HM); narrowed blood vessels (NBV); bone spicules (BS).