Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies

Figures & data

Table 1 Inherited Retinal Diseases Other Than Retinitis Pigmentosa: Distribution by Sex and Age at Baseline and Diagnosis

Disease	Total N (%)	Women N (%)	Men N (%)	Age at Onset Mean±SD	Age at Diagnosis Mean±SD
Panretinal pigmentary retinopathies	39 (14.3%)
PCD & CORD	25 (9.2%)	14 (56%)	11 (44%)	27±18.3	37.1±19.1
LCA	5 (1.8%)	2 (40%)	3 (60%)	2±1	4±3.5
BCD	3 (1.1%)	1 (33.3%)	2 (66.7%)	45.7±12.1	48±9.5
Retinitis punctata albecens	3 (1.1%)	1 (33.3%)	2 (66.7%)	37±27.6	38.3±29.7
CHM	3 (1.1%)	1 (33.3%)	2 (66.7%)	58±22.3	65.7+11.7
Macular dystrophies	161 (59.19%)
STGD, FF	40 (14.7%)	21 (52.5%)	19 (47.5%)	24.1±13.9	28.1±15.3
AOFMD	36 (13.2%)	18 (50%)	18 (50%)	60.1±12.4	62.3±11.5
CACD	20 (7.35%)	14 (70%)	6 (30%)	42±14.1	56.2±16.5
Butterfly-shaped PD	19 (6.99%)	11 (57.9%)	8 (42.1%)	55.3±14.8	58.2±14.8
DD	17 (6.65%)	12 (70.6%)	5 (29.4%)	49.3±5	50.6±5.2
SFD	14 (5.15%)	13 (92.9%)	1 (7.14%)	48.1±7.5	55.7±12.5
BVMD	11 (4.04%)	4 (36.4%)	7 (63.6%)	30.5±17.8	38.5±20.4
BCAMD	4 (1.47%)	1 (33.3%)	3 (75%)	57±16	58.3±15.8
Stationary diseases	28 (10.29%)
CSNB	14 (5.15%)	2 (14.3%)	12 (85.7%)	7.5±12.1	18.9±18.1
Ocular albinism + oculocutaneous albinism	8 (2.94%)	3 (37.5%)	5 (62.5%)	6.3±8.1	9±8.4
ACHM + dyschromatopsia	6 (2.21%)	3 (50%)	3 (50%)	10.7±15.3	16.3±18.9
Optic nerve diseases	12 (4.41%)
DOA	12 (4.41%)	4 (33.3%)	8 (66.7%)	17.2±15.1	32.3±19.7
Hereditary vitreoretinopathies	14 (5.15%)
XLRS	9 (3.31%)	0	9 (100%)	13.8±12.6	20.6±18.6
FEVR	5 (1.84%)	2 (40%)	3 (60%)	44±23.2	49.6±19.7
Other IRD	18 (6.62%)	10 (56.6%)	8 (44.4%)	30.9±18.8	37.2±20.4
Total	272	137 (50.4%)	135 (49.6%)

Abbreviations: ACHM, congenital achromatopsia; AOFMD, adult-onset foveomacular vitelliform dystrophy; BCAMD, benign concentric annular macular dystrophy; BCD, Bietti’s crystalline corneoretinal dystrophy; BVMD, Best’s vitelliform macular dystrophy; CACD, central areolar choroidal dystrophy; CHM, choroideremia; CORD, cone-rod dystrophy; CSNB, congenital stationary night blindness; DOA, dominant optic nerve atrophy; PD, pattern dystrophy; DD, dominant drusen; FEVR, familial exudative vitreoretinopathy; FF, fundus flavimaculatus; IRD, inherited retinal disease; LCA, Leber’s congenital amaurosis; N, number; %, percentage; PCD, progressive cone dystrophy; SD, standard deviation; SFD, Sorsby’s fundus dystrophy; STGD, Stargardt’s disease; XLRS, X-linked retinoschisis.

Table 2 Pattern of Inheritance of Each Disease

Disease	Total n	AD n (%)	AR n (%)	XL n (%)	Unknown n (%)
Panretinal pigmentary retinopathies
PCD and CORD	25	2 (8%)	12 (48%)	0	11 (44%)
LCA	5	0	5 (100%)	0	0
BCD	3	0	0	0	3 (100%)
Retinitis punctata albescens	3	0	0	0	3 (100%)
CHM	3	0	0	3 (100%)	0
Macular dystrophies
STGD, FF	40	0	40 (100%)	0	0
AOFMD	36	36 (100%)	0	0	0
CACD	20	20 (100%)	0	0	0
Butterfly-shaped PD	19	19 (100%)	0	0	0
DD	17	17 (100%)	0	0	0
SFD	14	14 (100%)	0	0	0
BVMD	11	11 (100%)	0	0	0
BCAMD	4	4 (100%)	0	0	0
Stationary diseases
CSNB	14	0	0	9 (64.3%)	5 (35.7%)
Ocular albinism + oculocutaneous albinism	8	0	2 (25%)	2 (25%)	4 (50%)
ACHM + dyschromatopsia	6	0	3 (50%)	3 (50%)	0
Inherited diseases of the optic nerve
DOA	12	12 (100%)	0	0	0
Hereditary viteoretinopathies
XLRS	9	0	0	9 (100%)	0
FEVR	5	5 (100%)	0	0	0
Other IRD	18	2 (11.1%)	0	0	16 (88.9%)
Total	272	142 (52.2%)	62 (22.8%)	26 (9.6%)	42 (15.4%)

Abbreviations: AD, autosomal dominant; ACHM, congenital achromatopsia; AOFMD, adult-onset foveomacular vitelliform dystrophy; AR, autosomal recessive; BCAMD, benign concentric annular macular dystrophy; BCD, Bietti’s crystalline corneoretinal dystrophy; BVMD, Best’s vitelliform macular dystrophy; CACD, central areolar choroidal dystrophy; DOA, dominant optic nerve atrophy; CHM, choroideremia; CORD, cone-rod dystrophy; CSNB, congenital stationary night blindness; DD, dominant drusen; FEVR, familial exudative vitreoretinopathy; LCA, Leber’s congenital amaurosis; LX, recessive X-linked; N, number; STGD; Stargardt’s disease; FF, fundus flavimaculatus; PCD, progressive cone dystrophy; PD, pattern dystrophy; SFD, Sorsby’s pseudoinflammatory fundus dystrophy; XLRS, X-linked retinoschisis.

Table 3 Results of Genetic Testing

Mode of Inheritance	Patients (n)	Disease-Causing Gene (n)
Retinitis pigmentosa
Autosomal recessive	30	USH2A (17), PDE6A (2), PDE6B (1), CDH23 (3), CERKL (1), CLN3 (1), CNGA1 (1), BBS1 (2), CEP290 (1) SPATA7 (1)
Autosomal dominant	9	RHO (4), PRPF8 (2), PRPH2 (3)
X-linked	2	RPGR (2)
Other inherited retinal dystrophies
Autosomal recessive	30	ABCA4 (20), CRB1 (2), CDHR1 (1), BSS1 (1), BRAF (1), CABP4 (1), TYR (1), OCA2 (1), CNGB (1), RPE65 (1)
Autosomal dominant	11	PRPH2 (5), BEST1 (3), OPA1 (2), PROM1 (1)
X-linked	9	RS1 (4), REP1 (2), GPR143 (2), CACNAF1 (1)
Mitochondrial	1	MT-ND1 (1)

Abbreviation: n, number.

Figure 1 Percentages of patients based on low-vision categories. The figure shows the percentages of patients according to the decade of life for the total retinitis pigmentosa sample A higher number of patients without Low Vision (LV) or with mild LV is observed in the first decades, which decreases throughout life while blind patients increase.

Figure 2 Percentages of patients based on the status of the visual field according to the decade of life for the total retinitis pigmentosa sample. The figure shows the percentages of patients according to the decade of life for the total retinitis pigmentosa sample. The number of analysed patients is very small in the first and last decades of life, so these percentages should be taken with caution. Unrecordable CVs or lower than 5 degrees preserved increase from the 2nd to the 7th decades of life, and those greater than 5 degrees decrease as expected.

Table 4 Comparison of Inherited Retinal Diseases in the Current Series with Other Series

		Brazil Motta et al 2018^Citation15	Southern France Bocquet et al 2020^Citation8	Northern France Puech et al 1991^Citation16	Spain Coco et al 2020
Patients with inherited retinal diseases * (number)		1246	2141 (1608 families)	1660	488
Positive genetic test/genetic test done		400/559	446/667 families	Not reported	92/129
	Positive % of total sample	71.57%	66.8% families		71.31%
	Positive % of test done	32.10%	30.11% of families		2.95%
Panretinal pigmentary retinopathies	Non-syndromic retinitis pigmentosa	433/1246 34.75%	922/2141 43.06%	584–45/1660 37.89%	182/488 37.29%
	Syndromic retinitis pigmentosa	145/1246 11.63%	268/2141 12.52%	105/1660 6.32%	34/488 6.96%
	Progressive cone dystrophy and cone-rod dystrophy	89/1246 7.14%	91–49/2141 6.54%	111–33/1660 8.67%	25/488 5.12%
Macular dystrophies	Stargardt and/or fundus flavimaculatus	257/1246 20.62%	118/2141 5.51%	286+-31/1660 19.09%	40/488 8.19%
	Best disease	26/1246 2.08%	43/2141 2.01%	106/1660 6.38%	11/488 2.25%
	Other	108/1246 (105 undetermined) 8.67%	188/2141 8.78%	73/1660 4.39%	110/488 22.54%

Note: *Non-syndromic retinitis pigmentosa, progressive cone dystrophy and cone-rod dystrophy not included in this study.

Puech B, Kostrubiec B, Hache JC, Francois P. Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France. J Fr Ophtalmol. 1991;14(3):153–164.

 PubMed Web of Science ®Google Scholar

Hamel C. Retinitis pigmentosa. Orphanet J Rare Dis. 2006;1:40.

 PubMed Web of Science ®Google Scholar

Gamundi MJ, Hernan I, Muntanyola M, et al. High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population. Mol Vis. 2007;13:1031–1037.

 PubMed Web of Science ®Google Scholar