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. 2020 Jun 1;98(8):e1034–e1048. doi: 10.1111/aos.14479

Table 2.

Clinical and genetic characteristics of cases with causative mutations.

Case ID Pretest phenotype Previous genetic study Pretest inheritance pattern Age at diagnosis Gene Allele variant Variant zygosity ACMG classification

Clasificación

HGMD/ClinVar

 Fulfilled ACMG pathogenicity criteria Gene‐associated phenotype Gene‐associated phenotype inheritance pattern Pretest syndrome, hidden syndrome or non‐syndromic
OFTALMO.001 Retinitis pigmentosa Not reported AR † Old age (61 years) DHDDS c.124A>G, p.(Lys42Glu) Hom. P DM/P PM3_VS, PP1_S, PM2, PS3_P Retinitis pigmentosa type 59 AR Non‐syndromic
OFTALMO.002 Retinitis pigmentosa Not reported AD/ AR Youth (26 years) ABCA4 c.868C>T, p.(Arg290Trp) Hom. LP DM/Absent PM3_S, PM2

Stargardt disease type 1

Fundus flavimaculatus

Retinitis pigmentosa type 19

Cone‐rod dystrophy type 3

 AR Non‐syndromic
OFTALMO.003 Retinitis pigmentosa Not reported AD/ AR Youth (26 years) EYS c.5928‐2A>G Hom. P DM?/P PVS1, PM2, PM3, PP1 Retinitis pigmentosa type 25 AR Non‐syndromic
OFTALMO.004 Retinitis pigmentosa Not reported AD/ AR Childhood (9 years) RP1 c.1625C>G, p.(Ser542*) Hom. LP DM/Absent PM2, PM3_VS Retinitis pigmentosa type 1 AR Non‐syndromic
OFTALMO.005 Retinitis pigmentosa Not reported AR † Youth (24 years) CNGB1 c.2957A>T, p.(Asn986Ile) Hom. P DM/P PM1, PM2, PM3_VS, PP1, BS1_P Retinitis pigmentosa type 45 AR Non‐syndromic
OFTALMO.006 Retinitis pigmentosa Not reported AR † Youth (15 years) IFT140 c.874G>A, p.(Val292Met) Hom. P DM/P PS3_P, PM2, PM3_VS

Retinitis pigmentosa type 80

Mainzer–Saldino syndrome Jeune syndrome

Leber congenital amaurosis

 AR Non‐syndromic
OFTALMO.007 Usher syndrome Not reported AR † Youth (16 years) USH2A c.9304C>T, p.(Gln3102*) Hom. P Absent/P PVS1, PM2, PM3_P Usher syndrome type 2A AR Pretest syndrome
OFTALMO.008 Retinitis pigmentosa Not reported XD/ XR Youth (28 years) CHM c.1514delT, p.(Leu505Trpfs*4) Hem. LP Absent/Absent PVS1, PM2 Choroideremia XD Non‐syndromic
OFTALMO.009 Retinitis pigmentosa Not reported AR Youth (21 years) IFT140 c.874G>A, p.(Val292Met) Hom. P DM/P PS3_P, PM2, PM3_VS

Retinitis pigmentosa type 80

Mainzer–Saldino syndrome Jeune syndrome

Leber congenital amaurosis

 AR Hidden syndrome
OFTALMO.010 Retinitis pigmentosa Not reported AR Youth (18 years) PROM1 c.1414delC, p.(Arg472Glufs*18) Hom. P Absent/Absent PVS1, PM2, PM3_P Retinitis pigmentosa type 41 AR Non‐syndromic
OFTALMO.011 Retinitis pigmentosa Yes AD/ AR Adulthood (44 years) FAM161A c.1355_1356delCA, p.(Thr452Serfs*3) Hom. P DM/P PVS1, PM2, PM3_VS, PP1_S Retinitis pigmentosa type 28 AR Non‐syndromic
OFTALMO.012 Retinitis pigmentosa Not reported AD † Adulthood (31 years) RHO c.173C>G, p.(Thr58Arg) Hom. LP DM/P PM2, PP1_S, PP3 Retinitis pigmentosa type 4 AD Non‐syndromic
OFTALMO.013 Retinitis pigmentosa Not reported AR † Adulthood (37 years) CNGB1 c.2957A>T, p.(Asn986Ile) Hom. P DM/P PM1, PM2, PM3_VS, PP1, BS1_P Retinitis pigmentosa type 45 AR Non‐syndromic
OFTALMO.014 Retinitis pigmentosa Not reported AR † Youth (18 years) CNGB1 c.2957A>T, p.(Asn986Ile) Hom. P DM/P PM1, PM2, PM3_VS, PP1, BS1_P Retinitis pigmentosa type 45 AR Non‐syndromic
OFTALMO.015 Retinitis pigmentosa Not reported AD/AR Adulthood (40 years) BBS1 c.1169T>G, p.(Met390Arg) Hom. P DM/P PS3, PM3_VS, PP1, BS1_P Bardet–Biedl syndrome type 1 AR Hidden syndrome
OFTALMO.016 Retinitis pigmentosa Not reported AD/AR Childhood (8 years) MCOLN1 c.878‐1G>A Hom. P Absent/Absent PVS1, PM2, PM3_P Mucolipidosis type IV AR Hidden syndrome
OFTALMO.017 Usher syndrome Yes AR † Childhood (10 years) MYO7A c.6025delG, p.(Ala2009Profs*32) Hom. P DM/P PVS1, PM2, PM3_VS, PP1_S Usher syndrome, type 1B AR Pretest syndrome
OFTALMO.018 Usher syndrome Not reported AR Adulthood (31 years) MYO7A c.397C>T, p.(His133Tyr) Hom. LP DM?/LP PM1, PM2, PM3, PM5, PP3 Usher syndrome, type 1B AR Pretest syndrome
OFTALMO.019 Stargardt disease Not reported AR Youth (16 years) ABCA4 c.6449G>A, p.(Cys2150Tyr) Hom. P DM/LP PM1, PM2, PM3_VS, PM5, PP3

Stargardt disease type 1

Fundus flavimaculatus

Retinitis pigmentosa type 19 Cone‐rod dystrophy type 3

 AR Non‐syndromic
OFTALMO.020 Retinitis pigmentosa Not reported XD/ XR Youth (15 years) CHM c.340G>T, p.(Glu114*) Hem. LP Absent/Absent PVS1, PM2 Choroideremia XD Non‐syndromic
OFTALMO.021 Maculopathy Not reported AR † Youth (18 years) ABCA4

c.5044_5058delGTTGCCATCTGCGTG,

p.(Val1682_Val1686del)

c.3943C>T, p.(Gln1315*)

 Het. Het.

P

P

 DM/np DM/Absent

PM2, PM3_VS, PM4

PVS1, PM2, PM3_S

Stargardt disease type 1

Fundus flavimaculatus

Retinitis pigmentosa type 19

 AR Non‐syndromic
OFTALMO.022 Retinitis pigmentosa Not reported AR Adulthood (27 years) OAT c.416T>G, p.(Met139Arg) Hom. LP Absent/Absent PM1, PM2, PM3_P, PP3 Gyrate atrophy of choroid and retina with or without ornithinemia AR Non‐syndromic
OFTALMO.024 Retinitis pigmentosa Yes AD/ AR Old age (57 years) PRPH2 c.660_665del, p.(Pro221_Cys222del) Het. LP Absent/Absent PM1, PM2, PM4

Macular dystrophy

Retinitis pigmentosa type 7

Retinitis punctata albescens

Choroidal dystrophy, central areolar type 2

 AD Non‐syndromic
OFTALMO.029 Retinitis pigmentosa Not reported XR † NA RPGR (ORF15) c.2284delG, p.(Glu762Lysfs*53) Hem. LP Absent/Absent PVS1, PM2 Retinitis pigmentosa type 3 Cone‐rod dystrophy type 1 XR Non‐syndromic
OFTALMO.031 Retinitis pigmentosa Not reported AD/ AR Youth (14 years) RP1

c.1625C>G, p.(Ser542*)

c.227T>C, p.(Leu76Pro)

 Het. Het.

LP

LP

DM/Absent

DM/Absent

 PM2, PM3_S PM1, PM2, PM3, PP3 Retinitis pigmentosa type 1 AR Non‐syndromic
OFTALMO.033 Retinitis pigmentosa Not reported AD/ AR Adulthood (39 years) CERKL c.356G>A, p.(Gly119Asp) Hom. LP DM/Absent PM1, PM2, PM3_S, PP1 Retinitis pigmentosa type 26 Cone‐rod dystrophy AR Non‐syndromic
OFTALMO.041

Malformative syndrome, suspicion of Bardet–

Biedl syndrome. Retinitis pigmentosa, mild mental retardation, patent foramen ovale,

polydactyly in hands and feet, genital hypoplasia, renal dysplasia, obesity, hypertension.

 Yes AR Childhood (10 years) BBS4 c.‐2274_23 + 930del Hom. LP Absent/Absent PVS1, PM2, PM3_P Bardet–Biedl syndrome AR Pretest syndrome
OFTALMO.046 Retinitis pigmentosa Not reported AR † Youth (18 years) ARL6

c.36_39dupCCTG, p.(Lys14Profs*15)

c.499G>A, p.(Gly167Arg)

 Het. Het. P LP

Absent/Absent

Absent/Absent

 PVS1, PM2, PM3_S, PP1 PM1, PM2, PM3_S, PP1, PP3 Retinitis pigmentosa type 55 AR Non‐syndromic
OFTALMO.047 Retinitis pigmentosa Not reported AD/ AR Childhood (4 years) IMPDH1 c.933C>G, p.(Asp311Glu) Het. LP Absent/Absent PS2_M, PM1, PM2, PP3 Retinitis pigmentosa type 10 AD Non‐syndromic
OFTALMO.052 Retinitis pigmentosa Not reported AD/ AR Youth (29 years) USH2A

c.9304C>T, p.(Gln3102*)

c.2276G>T, p.(Cys759Phe)

 Het. Het. P LP

DM/P

Absent/P

 PVS1, PM2, PM3_P PM1, PM3_S, PP1, PP3, BS1_P Retinitis pigmentosa type 39 AR Non‐syndromic
OFTALMO.054 Usher syndrome Not reported AR Adulthood (49 years) PEX1

c.3077T>C, p.(Leu1026Pro)

c.1548delT, p.(Leu517Cysfs*2)

 Het. Het.

LP

LP

 DM/Absent Absent/Absent PM1, PM2, PP1, PP3 PVS1, PM2 Heimler syndrome AR Pretest syndrome
OFTALMO.060 Nystagmus. Complete atrophy of the optic nerve. Retinitis pigmentosa. Macular atrophy. Mental retardation Not reported AD/ AR Congenital (at birth) KIF11 c.2548‐2A>G Het. P Absent/Absent PVS1, PM2, PP3

MLCRD syndrome: Microcephaly with or without chorioretinopathy, lymphedema or

mental retardation

 AD Hidden syndrome
OFTALMO.063 Macular atrophy with perimacular ‘flecks’ compatible with Stargardt's disease Not reported AD/ AR Childhood ABCA4

c.5819T>C, p.(Leu1940Pro)

c.3386G>T, p.(p.Arg1129Leu)

 Het. Het.

P

P

 DM/P DM/LP PM2, PM3_VS, PP1, PP3 PS4, PM1, PM2, PM3_S, PM5, PP3 Stargardt disease type 1 Fundus flavimaculatus AR Non‐syndromic
OFTALMO.068

Retinitis pigmentosa. Atrophy of the optic nerve.

Deafness, hypertension and

 Not reported AD/ AR † Childhood (8 years) USH2A

c.2276G>T, p.(Cys759Phe)

c.12093delC, p.(Tyr4031*)

 Het. Het.

LP

LP

 DM/P DM/Absent PM1, PM3_S, PP1, PP3, BS1_P PVS1, PM2 Usher syndrome type 2A AR Pretest syndrome
OFTALMO.072

Retinitis pigmentosa. Atrophy of the optic nerve.

Deafness of the right ear

 Not reported AR † Adulthood (40 years) ABCA4 c.5882G>A, p.(Gly1961Glu) Hom. P DM/P PS3_P, PS4, PM3_VS, PP3, BA1

Stargardt disease type 1

Fundus flavimaculatus

Retinitis pigmentosa type 19 Cone‐rod dystrophy type 3

 AR Pretest syndrome
OFTALMO.076 Macular dystrophy in pattern with flecks Not reported AR † Old age (67 years) ABCA4

c.3056C>T, p.(Thr1019Met)

c.6718A>G, p.(Thr2240Ala)

 Het. Het.

LP

LP

 DM/P DM?/Absent PM1, PM2, PM3, PP3 PM2, PM3_S, PP3 Stargardt disease type 1 Fundus flavimaculatus AR Non‐syndromic
OFTALMO.077

Retinitis pigmentosa with macular edema. Mean myopia. Bilateral moderate non‐progressive

hearing loss

 Not reported AR Youth (15 years) USH2A

c.8917_8918delCT, p.(Leu2973Lysfs*79)

c.9119G>A (p.Trp3040*)

 Het. Het.

P

P

DM/Absent

DM/Absent

 PVS1, PM2, PM3_S PVS1, PM2, PM3, PP1 Usher syndrome type 2A AR Pretest syndrome
OFTALMO.081 Retinitis pigmentosa. Tapetoretinian dystrophy Not reported AD/ AR Old age (66 years) PRPH2 c.422delA, p.(Tyr141Serfs*12) Het. LP Absent/Absent PVS1, PM2

Macular dystrophy

Retinitis pigmentosa type 7

Retinitis punctata albescens

Choroidal dystrophy, central areolar type 2

 AD Non‐syndromic
OFTALMO.082 Infectious choroiditis (25 years). Macular degeneration Not reported AR † Old age (65 years) PRPH2 c.421T>C, p.(Tyr141His) Het. LP DM/Absent PM1, PM2, PM5, PP1_S, PP3

Macular dystrophy

Retinitis pigmentosa type 7

Retinitis punctata albescens

Choroidal dystrophy, central areolar type 2

 AD Non‐syndromic
OFTALMO.087 Nystagmus and visual deficit Yes AR † Congenital (3 months) CEP290

c.384_387delTAGA, p.(Asp128Glufs*34)

c.7341_7344dupACTT,

p.(Ser2449Thrfs*8)

 Het. Het.

P

P

DM/P

Absent/Absent

PVS1, PM3_S, BA1

PVS1, PM2, PM3

Leber congenital amaurosis type 10

Senior‐Loken syndrome type 6

Joubert syndrome type 5

 AR Non‐syndromic
OFTALMO.093 Bilateral atrophy, diabetes and hypertension Not reported AD † Adulthood (40 years) PRPH2 c.537G>A, p.(Trp179*) Het. LP Absent/Absent PVS1, PM2

Macular dystrophy

Retinitis pigmentosa type 7

Retinitis punctata albescens

Choroidal dystrophy, central areolar type 2

 AD Non‐syndromic
OFTALMO.094 Bull's eye maculopathy. Possible macular dystrophy Not reported AD/ AR † Youth (12 years) ABCA4

c.982G>T, p.(Glu328*)

c.5882G>A, p.(Gly1961Glu)

 Het. Het.

P

P

 DM/Absent DM/P PVS1, PM2, PM3 PS3_P, PS4, PM3_VS, PP3, BA1 Stargardt disease type 1 Fundus flavimaculatus AR Non‐syndromic
OFTALMO.095 Macular atrophy with perimacular flecks Not reported AD/ AR Childhood (15 years) ABCA4

c.3386G>T, p.(Arg1129Leu)

c.6006‐2A>G

 Het. Het. P LP

DM/LP

Absent/Absent

 PS4, PM1, PM2, PM3_S, PM5, PP3 PVS1_S, PM2 Stargardt disease type 1 Fundus flavimaculatus AR Non‐syndromic
OFTALMO.097 Retinitis pigmentosa, diabetic retinopathy, deafness, epilepsy Not reported AD/ AR Childhood (8 years) PRPS1 c.292G>A, p.(Asp98Asn) Het. LP Absent/Absent PM1, PM2, PM6_P, PP3 Syndromic retinitis pigmentosa (ocular asymmetry, hearing loss and neurological disorders) XD Pretest syndrome
OFTALMO.098 Optical and macular atrophy Not reported AD † Youth (15 years) OPA1 c.1847 + 1G>T Het. LP DM/LB PVS1, PM2 Optic atrophy 1 Optic atrophy plus syndrome AD Non‐syndromic

AD = autosomal dominant; AR = autosomal recessive; Hem = Hemizygous; Het = Heterozygous; Hom = Homozygous; LB = Likely benign; LP = Likely pathogenic; NA = not available; np = not provided; P = Pathogenic; XD = X‐linked dominant.

†

Family history of eye disease.