Descripción general
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La atrofia óptica es la manifestación clínica de cualquier proceso patológico que cause la degeneración del axón en la vía retinogénica. Particularmente, estas enfermedades afectan a las células ganglionares de la retina y sus axones formando el nervio óptico, que son los encargados de transferir la información visual de los fotorreceptores al genículo lateral en el cerebro. La atrofia óptica se ve clínicamente como cambios en el color y la estructura del disco óptico asociados con grados variables de disfunción visual que comienza típicamente en la primera década de la vida. Es una forma relativamente común de neuropatía óptica hereditaria y puede ser sindrómica, lo que puede incluir síntomas extraoculares principalmente neuromusculares. El modo de herencia varía de mitocondrial, autosómico dominante y recesivo.
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El panel de precisión de atrofia óptica de Igenomix se puede utilizar para realizar un diagnóstico preciso y directo, así como un diagnóstico diferencial de ceguera progresiva que, en última instancia, conduce a un mejor manejo y pronóstico de la enfermedad. Proporciona un análisis completo de los genes involucrados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes involucrados.
Indicaciones
- El Panel de Precisión de Atrofia Óptica Igenomix está indicado para aquellos pacientes con sospecha clínica o diagnóstico con o sin las siguientes manifestaciones:
-
Visión borrosa
-
Dificultades con la visión periférica.
-
Dificultades con la visión del color.
-
Reducción de la agudeza de la visión.
-
Utilidad clínica
La utilidad clínica de este panel es:
-
La confirmación genética y molecular para un diagnóstico clínico preciso de un paciente sintomático.
-
Inicio temprano del tratamiento con un equipo multidisciplinario en forma de examen oftalmológico regular, ayudas para la baja visión y medidas preventivas como evitar el alcohol, el tabaco y algunos medicamentos.
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Evaluación de riesgos y asesoramiento genético de familiares asintomáticos según modalidad hereditaria.
Genes y enfermedades
GENE |
OMIM DISEASES |
INHERITANCE* |
% GENE COVERAGE (20X) |
HGMD** |
ABCA4 |
Cone-Rod Dystrophy, |
AD,AR |
100 |
1392 of 1430 |
ABHD12 |
Polyneuropathy, |
AR |
95.77 |
21 of 21 |
ACBD5 |
Retinal Dystrophy |
AR |
100 |
3 of 3 |
ACOX1 |
Mitchell Syndrome, |
AD,AR |
96.95 |
22 of 22 |
ADAM9 |
Cone Rod Dystrophy |
AR |
100 |
10 of 10 |
ADGRV1 |
Familial Febrile Convulsions, |
AD,AR |
97.53 |
– |
AHR |
Retinitis Pigmentosa |
AR |
99.91 |
2 of 2 |
AIPL1 |
Leber Congenital |
AD,AR,X,XR,G |
89 |
82 of 82 |
ALMS1 |
Alstrom Syndrome |
AR |
99.92 |
302 of 305 |
AP3B2 |
Early Infantile Epileptic |
AR |
99.95 |
11 of 12 |
APOB |
Familial |
AD,AR |
99.62 |
369 of 375 |
ARL2BP |
Retinitis Pigmentosa |
AR |
99.99 |
7 of 7 |
ARL3 |
Joubert Syndrome, |
AD,AR |
99.99 |
4 of 4 |
ARL6 |
Bardet-Biedl Syndrome 1, |
AD,AR,X,XR,G |
100 |
17 of 21 |
ASPA |
Canavan Disease |
AR |
99.56 |
93 of 94 |
ATF6 |
Achromatopsia, |
AR |
99.98 |
16 of 16 |
ATP6 |
Leber Optic Atrophy, |
MI |
– |
– |
ATXN2 |
Spinocerebellar Ataxia, |
AD |
91.78 |
9 of 10 |
ATXN7 |
Spinocerebellar Ataxia |
AD |
94.99 |
– |
BBIP1 |
Bardet-Biedl |
AR |
99.88 |
1 of 1 |
BBS1 |
Bardet-Biedl |
AR |
100 |
102 of 105 |
BBS10 |
Bardet-Biedl |
AR |
100 |
114 of 114 |
BBS12 |
Bardet-biedl |
AR |
99.78 |
61 of 61 |
BBS2 |
Bardet-Biedl |
AR |
100 |
99 of 100 |
BBS4 |
Bardet-Biedl |
AR |
100 |
45 of 48 |
BBS5 |
Bardet-Biedl |
AR |
99.8 |
30 of 31 |
BBS7 |
Bardet-Biedl |
AR |
100 |
48 of 48 |
BBS9 |
Bardet-Biedl |
AR |
99.56 |
50 of 51 |
BCS1L |
Bjornstad Syndrome, |
AR,MI |
99.96 |
40 of 42 |
BEST1 |
Bestrophinopathy, |
AD,AR |
94.35 |
342 of 344 |
C1QTNF5 |
Late-Onset Retinal |
AD |
99.97 |
7 of 7 |
C8ORF37 |
Bardet-Biedl Syndrome, |
AD,AR,X,XR,G |
– |
– |
CA4 |
Retinitis Pigmentosa |
AD |
99.97 |
11 of 11 |
CACNA1F |
Aland Island Eye Disease, |
X,XR,G |
100 |
– |
CACNA2D4 |
Retinal Cone Dystrophy, |
AR |
99.64 |
7 of 7 |
CC2D2A |
Coach Syndrome, |
AR |
99.43 |
98 of 100 |
CCDC103 |
Primary Ciliary |
AR |
99.92 |
6 of 6 |
CCDC28B |
Bardet-Biedl |
AR |
99.83 |
1 of 1 |
CCDC39 |
Primary Ciliary |
AR |
99.56 |
48 of 52 |
CCDC40 |
Primary Ciliary |
AR |
98 |
50 of 50 |
CCDC65 |
Primary Ciliary |
AR |
99.98 |
3 of 3 |
CCNO |
Primary Ciliary |
AR |
99.94 |
12 of 12 |
CDH23 |
Usher Syndrome |
AD,AR |
98 |
400 of 403 |
CDH3 |
Eem Syndrome, |
AR |
95 |
34 of 36 |
CDHR1 |
Cone-Rod Dystrophy, |
AR |
99.67 |
55 of 55 |
CEP250 |
Cone-Rod Dystrophy |
AR |
99.98 |
7 of 7 |
CEP290 |
Bardet-Biedl Syndrome, |
AR |
96.47 |
293 of 327 |
CEP78 |
Cone-Rod Dystrophy |
AR |
99.44 |
9 of 10 |
CERKL |
Retinitis Pigmentosa |
AR |
100 |
46 of 46 |
CFAP221 |
Primary Ciliary |
– |
89.78 |
– |
CFAP298 |
Primary Ciliary |
AR |
– |
– |
CFAP300 |
Primary Ciliary |
AR |
– |
– |
CFAP410 |
Retinal Dystrophy |
AR |
– |
– |
CIB2 |
Usher Syndrome |
AR |
99.95 |
16 of 17 |
CLDN19 |
Familial Primary |
AR |
99.96 |
21 of 21 |
CLN3 |
Neuronal Ceroid |
AR |
99.93 |
73 of 75 |
CLRN1 |
Retinitis Pigmentosa, |
AD,AR,X,XR,G |
99.99 |
40 of 41 |
CNGA1 |
Retinitis |
AD,AR,X,XR,G |
99.82 |
36 of 37 |
CNGA3 |
Achromatopsia, |
AR |
99.97 |
165 of 165 |
CNGB1 |
Retinitis |
AR |
100 |
75 of 75 |
CNNM4 |
Cone-Rod Dystrophy |
AR |
96.86 |
27 of 27 |
COQ2 |
Coenzyme Q10 |
AD,AR |
99.61 |
37 of 38 |
CRB1 |
Leber Congenital |
AD,AR,X,G |
99.84 |
365 of 371 |
CRX |
Cone-Rod Dystrophy, |
AD,AR,X,XR,G |
99.91 |
117 of 117 |
CTSD |
Neuronal Ceroid |
AR |
100 |
18 of 18 |
CWC27 |
Retinitis Pigmentosa |
AR |
99.77 |
8 of 8 |
DHDDS |
Developmental Delay |
AD,AR |
96.32 |
8 of 8 |
DHX38 |
Retinitis |
AR |
100 |
4 of 4 |
DNAAF1 |
Primary Ciliary |
AR |
99.55 |
36 of 37 |
DNAAF2 |
Primary Ciliary |
AR |
97.45 |
7 of 8 |
DNAAF3 |
Primary Ciliary |
AR |
98.95 |
13 of 14 |
DNAAF4 |
Primary Ciliary |
AD,AR |
99.27 |
– |
DNAAF5 |
Primary Ciliary |
AR |
89.27 |
– |
DNAAF6 |
Primary Ciliary |
X,XR,G |
99.63 |
– |
DNAH1 |
Primary Ciliary |
AR |
100 |
58 of 58 |
DNAH11 |
Primary Ciliary |
AR |
99.27 |
159 of 169 |
DNAH5 |
Primary Ciliary |
AR |
100 |
277 of 278 |
DNAH9 |
Primary Ciliary |
AR |
98.86 |
19 of 19 |
DNAI1 |
Kartagener Syndrome, |
AR |
96.91 |
43 of 43 |
DNAI2 |
Primary Ciliary |
AR |
98.89 |
8 of 8 |
DNAJB13 |
Primary Ciliary |
AR |
99.94 |
3 of 3 |
DNAL1 |
Primary Ciliary |
AR |
99.43 |
5 of 5 |
DRAM2 |
Cone Rod |
AR |
99.87 |
13 of 13 |
DRC1 |
Primary Ciliary |
AR |
100 |
9 of 9 |
DYNC2I2 |
Jeune Syndrome, |
AR |
99.54 |
23 of 23 |
EXOSC2 |
Short Stature, |
AR |
100 |
3 of 3 |
EYS |
Retinitis |
AR |
99.54 |
358 of 379 |
FAM161A |
Retinitis |
AR |
99.74 |
22 of 23 |
FDXR |
Auditory Neuropathy |
AR |
99.93 |
23 of 23 |
FLVCR1 |
Posterior |
AR |
99.96 |
26 of 26 |
FOXJ1 |
Primary Ciliary |
AD |
99.69 |
5 of 5 |
FSCN2 |
Retinitis |
AD |
98.93 |
16 of 17 |
GAS2L2 |
Primary Ciliary |
AR |
89 |
4 of 5 |
GAS8 |
Primary Ciliary |
AR |
99.98 |
6 of 6 |
GATA3 |
Hypoparathyroidism- |
AD |
100 |
81 of 81 |
GGCX |
Pseudoxanthoma |
AR |
100 |
62 of 62 |
GUCA1A |
Cone Dystrophy, |
AD |
99.94 |
27 of 27 |
GUCA1B |
Retinitis |
AD |
100 |
10 of 10 |
GUCY2D |
Central Areolar Choroidal |
AD,AR |
99.98 |
248 of 248 |
HGSNAT |
Mucopolysaccharidosis |
AR |
87.91 |
69 of 73 |
HK1 |
Neurodevelopmental |
AD,AR |
100 |
14 of 17 |
HMX1 |
Oculoauricular |
AR |
85.58 |
2 of 2 |
HSPD1 |
Autosomal Recessive |
AD,AR |
100 |
7 of 7 |
HYDIN |
Primary Ciliary |
AR |
81.7 |
45 of 63 |
IDH3B |
Retinitis |
AR |
100 |
5 of 5 |
IFT140 |
Retinitis Pigmentosa, |
AR |
99.97 |
81 of 81 |
IFT172 |
Retinitis Pigmentosa, |
AR |
100 |
37 of 37 |
IFT27 |
Bardet-Biedl |
AR |
100 |
5 of 5 |
IFT74 |
Bardet-Biedl |
AR |
99.95 |
6 of 6 |
IMPDH1 |
Leber Congenital |
AD |
99.98 |
29 of 29 |
IMPG2 |
Vitelliform Macular |
AD,AR |
99.7 |
46 of 46 |
IQCB1 |
Senior-Loken Syndrome, |
AR |
99.98 |
43 of 43 |
KCNV2 |
Retinal Cone |
AR |
99.98 |
86 of 88 |
KIF3B |
Retinitis |
AD |
99.92 |
– |
KIF5A |
Autosomal Dominant |
AD |
100 |
85 of 85 |
KIZ |
Retinitis |
AR |
na |
– |
KLHL7 |
Retinitis Pigmentosa, |
AD,AR |
98.69 |
19 of 19 |
KNTC1 |
Orbital Plasma Cell |
– |
99.89 |
– |
LRAT |
Leber Congenital |
AD,AR,X,XR,G |
100 |
25 of 25 |
LRRC56 |
Primary Ciliary |
AR |
99.77 |
5 of 5 |
LRRC6 |
Primary Ciliary |
AR |
99.88 |
21 of 21 |
LZTFL1 |
Bardet-Biedl |
AR |
99.83 |
4 of 4 |
MAK |
Retinitis |
AR |
100 |
28 of 28 |
MAPKAPK3 |
Macular |
AD |
99.98 |
2 of 2 |
MCIDAS |
Primary Ciliary |
AR |
99.92 |
4 of 4 |
MDH2 |
Early Infantile |
AR |
98 |
11 of 11 |
MERTK |
Retinitis |
AR |
100 |
99 of 101 |
MFRP |
Posterior Microphthalmia |
AR |
100 |
36 of 36 |
MKKS |
Bardet-Biedl Syndrome, |
AR |
89.96 |
71 of 71 |
MKS1 |
Bardet-Biedl Syndrome, |
AR |
99.98 |
49 of 49 |
MTTP |
Abdominal Obesity- |
AD,AR |
100 |
69 of 71 |
MVK |
Mevalonic Aciduriamevalonate |
AD,AR |
100 |
180 of 181 |
MYO6 |
Autosomal Dominant and |
AD,AR |
100 |
74 of 75 |
MYO7A |
Autosomal Dominant |
AD,AR |
100 |
579 of 580 |
ND1 |
Leber Optic Atrophy, |
MI |
– |
– |
ND2 |
Leber Optic Atrophy, |
MI |
85.56 |
– |
ND3 |
Isolated Complex I Deficiency, |
|
99.99 |
– |
ND4 |
Leber Optic Atrophy, |
MI |
– |
– |
ND5 |
Leber Optic Atrophy, |
MI |
99.89 |
– |
ND6 |
Leber Optic Atrophy, |
MI |
100 |
– |
NDUFA9 |
Mitochondrial Complex |
AR |
99.98 |
3 of 3 |
NEK10 |
Primary Ciliary |
AR |
99.95 |
3 of 3 |
NEK2 |
Retinitis Pigmentosa |
AR |
99.94 |
5 of 5 |
NGLY1 |
Congenital Disorder |
AR |
99.8 |
28 of 28 |
NME8 |
Primary Ciliary |
AR |
99.99 |
9 of 9 |
NMNAT1 |
Cone Rod Dystrophy, |
AR |
98.94 |
72 of 75 |
NPHP1 |
Joubert Syndrome, |
AR |
100 |
58 of 59 |
NPHP4 |
Senior-Loken |
AR |
99.96 |
118 of 119 |
NR2E3 |
Enhanced S-Cone |
AD,AR |
– |
– |
NRL |
Retinitis |
AD |
99.81 |
25 of 25 |
ODAD1 |
Primary Ciliary |
AR |
99.68 |
10 of 10 |
ODAD2 |
Primary Ciliary |
AR |
97.3 |
26 of 28 |
ODAD3 |
Primary Ciliary |
AR |
95 |
4 of 4 |
ODAD4 |
Primary Ciliary |
AR |
– |
– |
OFD1 |
Joubert Syndrome, |
X,XR,XD,G |
98.09 |
– |
OPN1LW |
Blue Cone Monochromacy, |
X,XR,G |
88 |
– |
OPN1MW |
Blue Cone Monochromacy, |
X,XR,G |
41.73 |
– |
PANK2 |
Hypoprebetalipoproteinemia, |
AR |
98.92 |
177 of 182 |
PCARE |
Retinitis |
AR |
– |
– |
PCDH15 |
Usher |
AR |
99.36 |
152 of 158 |
PCYT1A |
Spondylometaphyseal |
AR |
99.98 |
22 of 22 |
PDE6A |
Retinitis Pigmentosa |
AR |
100 |
75 of 75 |
PDE6B |
Retinitis Pigmentosa, |
AD,AR |
100 |
156 of 156 |
PDE6C |
Cone Dystrophy, |
AR |
100 |
63 of 63 |
PDE6G |
Retinitis Pigmentosa |
AD,AR,X,XR,G |
100 |
2 of 2 |
PDE6H |
Retinal Cone |
AD,AR |
100 |
2 of 2 |
PDZD7 |
Usher Syndrome |
AR |
100 |
28 of 28 |
PEX1 |
Hearing Loss, |
AR |
97.02 |
126 of 134 |
PEX10 |
Peroxisome Biogenesis |
AR |
99.76 |
29 of 32 |
PEX11B |
Peroxisome Biogenesis |
AR |
90.29 |
7 of 7 |
PEX12 |
Peroxisome Biogenesis |
AR |
100 |
38 of 38 |
PEX13 |
Peroxisome Biogenesis |
AR |
99.98 |
11 of 12 |
PEX14 |
Peroxisome Biogenesis |
AR |
100 |
4 of 4 |
PEX16 |
Peroxisome Biogenesis |
AR |
100 |
17 of 17 |
PEX19 |
Peroxisome Biogenesis |
AR |
100 |
5 of 5 |
PEX2 |
Peroxisome Biogenesis |
AR |
99.89 |
17 of 17 |
PEX26 |
Peroxisome Biogenesis |
AR |
100 |
29 of 29 |
PEX3 |
Peroxisome Biogenesis |
AR |
100 |
9 of 9 |
PEX5 |
Adrenoleukodystrophy, |
AR |
100 |
12 of 12 |
PEX6 |
Heimler Syndrome, |
AD,AR |
99.94 |
105 of 108 |
PEX7 |
Peroxisome Biogenesis |
AR |
99.21 |
47 of 53 |
PHYH |
Refsum |
AR |
100 |
34 of 34 |
PITPNM3 |
Cone-Rod |
AD |
99.8 |
7 of 7 |
PMM2 |
Congenital Disorder |
AR |
100 |
127 of 129 |
POC1B |
Cone Rod Dystrophy |
AR |
99.87 |
10 of 10 |
POGZ |
White-Sutton Syndrome, |
AD |
99.97 |
85 of 85 |
PPP2R3C |
Gonadal Dysgenesis, |
AD,AR |
99.85 |
3 of 3 |
PRCD |
Retinitis |
AR |
100 |
7 of 7 |
PROM1 |
Cone-Rod Dystrophy, |
AD,AR |
99.61 |
90 of 93 |
PRPF3 |
Retinitis |
AD |
100 |
8 of 9 |
PRPF31 |
Retinitis |
AD |
100 |
160 of 166 |
PRPF4 |
Retinitis |
AD |
99.99 |
5 of 5 |
PRPF6 |
Retinitis |
AD |
100 |
14 of 14 |
PRPF8 |
Retinitis |
AD |
100 |
58 of 58 |
PRPH2 |
Central Areolar Choroidal |
AD,AR |
100 |
188 of 188 |
PRPS1 |
Arts Syndrome, |
X,XR,G |
100 |
– |
RAB28 |
Cone Rod Dystrophy |
AR |
100 |
6 of 6 |
RAX2 |
Age-Related Macular |
AD |
99.89 |
7 of 9 |
RBP3 |
Retinitis |
AD,AR,X,XR,G |
100 |
17 of 17 |
RDH11 |
Retinal Dystrophy, |
AR |
99.97 |
3 of 3 |
REEP6 |
Retinitis |
AR |
97.59 |
9 of 9 |
RGR |
Retinitis |
AD,AR |
100 |
9 of 9 |
RHO |
Fundus Albipunctatusretinitis |
AD,AR |
100 |
229 of 229 |
RIMS1 |
Cone Rod |
AD |
98.2 |
24 of 24 |
RLBP1 |
Bothnia Retinal Dystrophy, |
AD,AR |
100 |
32 of 33 |
ROM1 |
Retinitis |
AD,AR,X,XR,G |
100 |
20 of 20 |
RP1 |
Retinitis |
AD,AR |
99.95 |
215 of 218 |
RP2 |
Retinitis |
X,G |
99.98 |
– |
RP9 |
Retinitis |
AD |
97.78 |
4 of 4 |
RPE65 |
Leber Congenital |
AD,AR |
100 |
231 of 231 |
RPGR |
Cone-Rod Dystrophy, |
X,XR,G |
94 |
– |
RPGRIP1 |
Cone-Rod Dystrophy, |
AR |
99.33 |
146 of 159 |
RPL10 |
X-linked Intellectual |
X,XR,G |
100 |
– |
RSPH1 |
Primary Ciliary |
AR |
100 |
10 of 10 |
RSPH3 |
Primary Ciliary |
AR |
99.85 |
5 of 5 |
RSPH4A |
Primary Ciliary |
AR |
99.98 |
27 of 27 |
RSPH9 |
Primary Ciliary |
AR |
100 |
13 of 13 |
SAG |
Oguchi Disease, |
AR |
100 |
18 of 18 |
SDCCAG8 |
Bardet-Biedl Syndrome, |
AR |
96.29 |
18 of 19 |
SEMA4A |
Cone-Rod Dystrophy, |
AD,AR |
99.94 |
15 of 15 |
SH2B1 |
Distal 16p11.2 |
– |
99.98 |
25 of 25 |
SLC19A2 |
Thiamine-Responsive |
AR |
99.99 |
67 of 68 |
SLC35A2 |
Congenital Disorder |
X,XD,G |
99.97 |
– |
SLC7A14 |
Retinitis |
AR |
99.97 |
10 of 10 |
SNRNP200 |
Retinitis |
AD |
100 |
40 of 40 |
SPAG1 |
Primary |
AR |
94.8 |
11 of 12 |
SPEF2 |
Primary |
AR |
99.6 |
10 of 13 |
SRD5A3 |
Congenital |
AR |
100 |
15 of 15 |
STK36 |
Primary Ciliary |
|
100 |
5 of 5 |
TELO2 |
You-Hoover-Fong |
AR |
99.98 |
8 of 8 |
TMEM67 |
Bardet-Biedl Syndrome, |
AR |
96.93 |
177 of 179 |
TOPORS |
Retinitis |
AD |
99.96 |
24 of 25 |
TRAF3IP1 |
Senior-Loken |
AR |
97.54 |
15 of 15 |
TRNK |
Mitochondrial |
MI |
– |
– |
TRNL1 |
Mitochondrial |
MI |
– |
– |
TRNT1 |
Retinitis Pigmentosa |
AR |
99.47 |
22 of 27 |
TRNV |
Mitochondrial |
MI |
– |
– |
TRNW |
Mitochondrial Myopathy, Encephalopathy, |
AR,MI |
– |
– |
TTC12 |
Primary Ciliary |
AR |
99.97 |
– |
TTC8 |
Bardet-Biedl |
AR |
99.33 |
28 of 28 |
TTLL5 |
Cone Rod |
AR |
99.95 |
15 of 15 |
TULP1 |
Leber Congenital |
AR |
99.9 |
82 of 82 |
UNC119 |
Immunodeficiency, |
AD |
100 |
6 of 6 |
USH1C |
Deafness, |
AR |
99.97 |
79 of 79 |
USH1G |
Usher |
AR |
100 |
35 of 35 |
USH2A |
Retinitis |
AR |
100 |
1286 of 1314 |
WARS2 |
Neurodevelopmental |
AR |
99.95 |
14 of 15 |
WDR19 |
Senior-Loken Syndrome, |
AR |
99.96 |
47 of 49 |
WHRN |
Usher |
AR |
99.94 |
NA– |
ZMYND10 |
Primary Ciliary |
AR |
99.98 |
16 of 16 |
ZNF408 |
Exudative |
AD,AR |
99.98 |
26 of 26 |
ZNF513 |
Retinitis |
AR |
99.97 |
3 of 3 |
* Herencia: AD: Autosómico Dominante; AR: autosómico recesivo; X: ligado a X; XLR: recesivo vinculado a X; Mi: mitocondrial; Mu: multifactorial; G: herencia gonosomal; D: herencia digénica
** HGMD: número de mutaciones clínicamente relevantes según HGMD
Referencias
Birtel, J., Eisenberger, T., Gliem, M., Müller, P. L., Herrmann, P., Betz, C., Zahnleiter, D., Neuhaus, C., Lenzner, S., Holz, F. G., Mangold, E., Bolz, H. J., & Charbel Issa, P. (2018). Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. Scientific reports, 8(1), 4824. https://doi.org/10.1038/s41598-018-22096-0
Gill, J. S., Georgiou, M., Kalitzeos, A., Moore, A. T., & Michaelides, M. (2019). Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy. The British journal of ophthalmology, 103(5), 711–720. Advance online publication. https://doi.org/10.1136/bjophthalmol-2018-313278
Hamel C. P. (2007). Cone rod dystrophies. Orphanet journal of rare diseases, 2, 7. https://doi.org/10.1186/1750-1172-2-7
Boulanger-Scemama, E., El Shamieh, S., Démontant, V., Condroyer, C., Antonio, A., Michiels, C., Boyard, F., Saraiva, J. P., Letexier, M., Souied, E., Mohand-Saïd, S., Sahel, J. A., Zeitz, C., & Audo, I. (2015). Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. Orphanet journal of rare diseases, 10, 85. https://doi.org/10.1186/s13023-015-0300-3
Tsang, S. H., & Sharma, T. (2018). Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR). Advances in experimental medicine and biology, 1085, 53–60. https://doi.org/10.1007/978-3-319-95046-4_12